WorldWideScience

Sample records for albinism

  1. Albinism

    Science.gov (United States)

    ... Hot Topics Meningitis Choosing Your Mood Prescription Drug Abuse Healthy School Lunch Planner How Can I Help a Friend ... than standing out, teens with albinism may face bullying or prejudice. Voicing any frustration or sadness to a family member or friend who understands can help. So ...

  2. Albinism

    Science.gov (United States)

    ... sun (or even to stay out of the sun completely). Kids with albinism can go to the beach and spend time outdoors, but they have to use lots of sunscreen and watch the amount of time they're soaking up ...

  3. Oculocutaneous albinism

    OpenAIRE

    Brondum-Nielsen Karen; Ek Jakob; Grønskov Karen

    2007-01-01

    Abstract Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while...

  4. Oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Brondum-Nielsen Karen

    2007-11-01

    Full Text Available Abstract Oculocutaneous albinism (OCA is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400 and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP. Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been

  5. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions ocular albinism ocular albinism Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Ocular albinism is a genetic condition that primarily affects ...

  6. Vision in albinism.

    OpenAIRE

    Summers, C G

    1996-01-01

    PURPOSE: The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity. METHODS: I. Binocular and monocular grating acuity was measured with the acuity card procedure in 40 children with albinism during the first 3 years of life. ...

  7. Albinism in barley androgenesis

    OpenAIRE

    Makowska, Katarzyna; Oleszczuk, Sylwia

    2013-01-01

    Androgenesis is highly useful for plant breeding, significantly reducing breeding cycle times, as well as in a wide range of biological research. However, for widespread use this process must be efficient. Despite several decades of research on the phenomenon of androgenesis, many processes involved are obscure and there is much to be understood about androgenesis. One of the problems inherent in androgenesis, and reducing its efficiency, is albinism. This article reviews albinism in barley a...

  8. Complete albinism in a Podarcis muralis newborn

    Directory of Open Access Journals (Sweden)

    Filippo Spadola

    2007-01-01

    Full Text Available The authors describe a case of complete albinism in a Podarcis muralis newborn, from Chieti (Abruzzo, central Italy in September 2004. This is the first complete albinism case in a Podarcis spp. In the world.

  9. Albinism: Educational Techniques for Parents and Teachers.

    Science.gov (United States)

    Ashley, Julia R.; Cates, Dennis L.

    1992-01-01

    A survey of teachers of the visually impaired and adults with albinism or parents of children with albinism (total responses=144) found no use of Braille by the adults or children with albinism, awareness of the condition by almost all teachers, support for mainstreaming by all, and specific teaching suggestions from teachers. (DB)

  10. Genetics Home Reference: oculocutaneous albinism

    Science.gov (United States)

    ... make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems ... oculocutaneous albinism type 2. This gene helps regulate melanin production ... however, they typically have red hair instead of the usual yellow, blond, or light ...

  11. Albinism: A Survey of Attitudes and Behavior.

    Science.gov (United States)

    Vander Kolk, Charles J.; Bright, Bobra C.

    1983-01-01

    Attitudes of tenth graders were more positive after receiving information about and exposure to albinism, an inherited condition affecting skin and hair color as well as visual functioning. Attitude difficulties are compounded by poor self-concept and racial factors. Albinic persons frequently know very little about the condition. (CL)

  12. Albinism in Malawi : A qulitative Study on Attitudes and Beliefs

    OpenAIRE

    2005-01-01

    Albinism is an inherited, genetic condition. People with albinism exhibit little or no pigment in eyes, skin or hair, and often have problems with vision and sensitive skin. Albinism in Malawi is a qualitative project that has set out to examine attitudes and beliefs related to people living with albinism in Malawi. The aim has been to assess what implications albinism has on the lives of those born with it, and for their closest network of family and friends. Individual, in-depth...

  13. Albinism: Improving Teacher and Caregiver Strategies for Meeting the Special Needs of Children with the Visual Disability of Ocular Albinism or Oculocutaneous Albinism (Birth to Age 14).

    Science.gov (United States)

    Ashley, Julia Robertson

    This practicum report addresses the educational needs of students with the visual disability of ocular or oculocutaneous albinism. Two booklets were developed, published, and distributed--one for regular education teachers of children with albinism and one specifically about the very young child with albinism. The booklets discuss the special…

  14. Incomplete albinism in Discoglossus pictus (Otth, 1837

    Directory of Open Access Journals (Sweden)

    Filippo Spadola

    2010-12-01

    Full Text Available The authors present an incomplete albinism case in a Discoglossus pictus subject found in Sicily. This is the first note for Italian territory, the second for the species and the third for Discoglossus genus.

  15. Oculocutaneous albinism complicated with an ulcerated plaque

    OpenAIRE

    Lokanatha Keshavalu; Priya Kootelu Sundar; Vivekananda; Leena Raveendra; Umashankar Nagaraju; Belliappa Pemmanda Raju

    2013-01-01

    A 32-year-old male with a history of albinism and farmer by occupation presented with an ulcerated plaque on the right wrist. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the plaque revealed a well-differentiated squamous-cell carcinoma. Wide surgical excision was done. The most common types of oculocutaneous albinism (OCA), OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the ...

  16. The experience of people with oculocutaneous albinism

    OpenAIRE

    Mmuso B.J. Pooe- Monyemore; Thandisizwe R. Mavundla; Arnold L. Christianson

    2012-01-01

    This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes. This condition is found globally, with a high prevalence in sub-Saharan Africa and in clusters in South America. People with this condition are often stigmatised and discriminated against owing to myths and superstitions held by the public ab...

  17. The experience of people with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Mmuso B.J. Pooe- Monyemore

    2012-07-01

    Full Text Available This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes. This condition is found globally, with a high prevalence in sub-Saharan Africa and in clusters in South America. People with this condition are often stigmatised and discriminated against owing to myths and superstitions held by the public about the condition. To date no studies have explored the psychosocial aspects of oculocutaneous albinism. A qualitative study was conducted in Johannesburg, South Africa during 2007 where a purposive sample of 15 members of the black population with oculocutaneous albinism participated in in-depth individualphenomenological interviews. One central question was posed to facilitate the interviews: Could you please share your experience as a person with albinism? Data from the interviews were analysed using Collaizi’s qualitative data analysis method and three main themesemerged: (1 perceptions of the internal environment, for example the self; (2 experiences in the external environment, for example family and community; and (3 the need for selfdevelopment and growth based on their experiences. Recommendations are made to enhance the self-concept of and promote a sense of belonging, self-development and growth in people with oculocutaneous albinism.

  18. Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

    OpenAIRE

    Wilk, Melissa A.; McAllister, John T.; Cooper, Robert F.; Dubis, Adam M.; Patitucci, Teresa N.; Summerfelt, Phyllis; Anderson, Jennifer L.; Stepien, Kimberly E; Costakos, Deborah M.; Connor, Thomas B.; Wirostko, William J.; Chiang, Pei-Wen; Dubra, Alfredo; Curcio, Christine A.; Brilliant, Murray H

    2014-01-01

    Foveal specialization (foveal cone packing, outer segment elongation, pit morphology) in albinism is highly variable and can overlap with normal foveal structure, contrary to the typical clinical picture of albinism.

  19. Albinism in Africa as a public health issue

    OpenAIRE

    Hong Esther S; Zeeb Hajo; Repacholi Michael H

    2006-01-01

    Abstract Background Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure. This population must deal with issues such as photophobia, decreased visual acuity, extreme sun sensitivity and skin cancer. People with albinism also face social discrimin...

  20. The Student with Albinism in the Regular Classroom.

    Science.gov (United States)

    Ashley, Julia Robertson

    This booklet, intended for regular education teachers who have children with albinism in their classes, begins with an explanation of albinism, then discusses the special needs of the student with albinism in the classroom, and presents information about adaptations and other methods for responding to these needs. Special social and emotional…

  1. Oculocutaneous albinism complicated with an ulcerated plaque

    Directory of Open Access Journals (Sweden)

    Lokanatha Keshavalu

    2013-04-01

    Full Text Available A 32-year-old male with a history of albinism and farmer by occupation presented with an ulcerated plaque on the right wrist. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the plaque revealed a well-differentiated squamous-cell carcinoma. Wide surgical excision was done. The most common types of oculocutaneous albinism (OCA, OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair and eyes. Photodamage and skin cancers plague patients with albinism. Albinos face a myriad of social and medical issues. Importance of photoprotection, skin cancer surveillance and treatment has been stressed upon in this report.

  2. A Comparison of the Interactive Play Behaviours between Children with Albinism and Their Siblings and Children without Albinism and Their Non-Albino Siblings

    Science.gov (United States)

    Javangwe, Gwatirera; Mukondyo, Rachel Z.

    2012-01-01

    The study explored the nature of the interactive play behaviours of children with albinism and children without albinism and compared the interactive behaviours of both children with albinism and children without albinism. Naturalistic observations were conducted during periods of free play, using the interactive play behaviour checklist aided by…

  3. Management of visual disturbances in albinism: a case report

    OpenAIRE

    Omar Rokiah; Idris Siti; Meng Chung; Knight Victor

    2012-01-01

    Abstract Introduction A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. Case presentation We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant...

  4. Prosthodontic management of an albinism patient-dental implications and management

    OpenAIRE

    Murthy, Varsha; V, Yuvraj; Thomas, Shaji; Nair, Preeti

    2013-01-01

    Albinism is a congenital hypopigmentary disorder. Albinism is due to the dysfunction of the melanin-producing cells (melanocytes) resulting in defective production of melanin from tyrosine through a complex pathway of metabolic reactions. Little is known about the varied dental features that albinism presents with. This case report summarises the features encountered in albinism, the different oral findings available in the literature and also presents a case of an albinism patient treated wi...

  5. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations

    OpenAIRE

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholamreza

    2015-01-01

    Purpose Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. In this study, we aimed to screen the mutations in the TYR gene in the nonsynd...

  6. Albinism: Particular attention to the ocular motor system

    Directory of Open Access Journals (Sweden)

    Richard W Hertle

    2013-01-01

    Full Text Available The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function.

  7. Albinism: particular attention to the ocular motor system.

    Science.gov (United States)

    Hertle, Richard W

    2013-01-01

    The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function. PMID:24014991

  8. Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

    OpenAIRE

    Kinnear, P E; Tuddenham, E G

    1985-01-01

    Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

  9. Visual deficits in Nepalese patients with oculocutaneous albinism

    OpenAIRE

    Khanal, Safal; Pokharel, Amrit; Kandel, Himal

    2015-01-01

    Background Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. Methods This was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the De...

  10. Albinism: Particular Attention to the Ocular Motor System

    OpenAIRE

    Richard W Hertle

    2013-01-01

    The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to v...

  11. Pediatric Patient with Oculocutaneous Albinism: A Case Report

    OpenAIRE

    Casandra Solis, OD

    2015-01-01

    Background: Oculocutaneous albinism (OCA) is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA has normal development, intelligence, fertility, and lifespan. Case Report: A two-month-old female presented with a new-onset intermittent ...

  12. Basal cell carcinoma in oculo-cutaneous albinism

    OpenAIRE

    Ajay Kumar; Ashish Chauhan; Subhash Kashyap

    2016-01-01

    The basal cell carcinoma is the most common skin tumour especially affecting the white individuals worldwide. The exact incidence of basal cell carcinoma is not known from India but non melanoma skin cancers comprises about 1-2% of cutaneous tumour in India. The most common skin tumour is squamous cell carcinoma in albinism and the incidence of basal cell carcinoma is less. Hereby, we report a peculiar case of basal cell carcinoma in albinism to highlights the importance of early recognition ...

  13. First report of partial albinism in genus Thrichomys (Rodentia: Echimyidae)

    OpenAIRE

    2014-01-01

    Reports about albinism in rodents are common. In the family Echimyidae, however, albinism is very rare. This is the second case of coat color variation reported within Echimyidae and the first for the genus Thrichomys. The pelages of Thrichomys pachyurus individuals with normal and variant coat color were observed under a fluorescent artificial light and were examined with a stereoscopic microscope. The descriptions of pelage color were based on the book "Color Standards and Color Nomenclatur...

  14. Complete albinism in a Podarcis muralis newborn

    OpenAIRE

    Filippo Spadola; Francesco Di Toro

    2007-01-01

    The authors describe a case of complete albinism in a Podarcis muralis newborn, from Chieti (Abruzzo, central Italy) in September 2004. This is the first complete albinism case in a Podarcis spp. In the world.

  15. Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

    OpenAIRE

    Gargiulo, Annagiusi; Testa, Francesco; Rossi, Settimio; Di Iorio, Valentina; Fecarotta, Simona; de Berardinis, Teresa; Iovine, Antonello; Magli, Adriano; Signorini, Sabrina; Fazzi, Elisa; Galantuomo, Maria Silvana; Fossarello, Maurizio; Montefusco, Sandro; Ciccodicola, Alfredo; Neri, Alberto

    2011-01-01

    This study is the first comprehensive mutational analysis of all genes associated with nonsyndromic albinism, performed in combination with a detailed clinical ophthalmic evaluation of a large series of Italian patients with albinism.

  16. Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

    OpenAIRE

    Inagaki, Katsuhiko; Suzuki, Tamio; Shimizu, Hiroshi; Ishii, Norihisa; Umezawa, Yoshinori; Tada, Joji; Kikuchi, Noriaki; Takata, Minoru; Takamori, Kenji; Kishibe, Mari; Tanaka, Michi; Miyamura, Yoshinori; Ito, Shiro; Tomita, Yasushi

    2004-01-01

    Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. Here, we report the mutational profile of OCA4, determined by genetic analysis of the MATP gene in a large Japanese population with OCA. Of 75 unrelated patients that were sc...

  17. Albinism in Africa: stigma, slaughter and awareness campaigns.

    Science.gov (United States)

    Cruz-Inigo, Andres E; Ladizinski, Barry; Sethi, Aisha

    2011-01-01

    Oculocutaneous albinism is an autosomal recessive disorder characterized by a lack of pigment in the hair, skin, and eyes. Albinism is caused by defective or absent tyrosinase, an enzyme necessary for melanogenesis. Although rare in the western world, albinism is quite common in sub-Saharan Africa, likely as a result of consanguinity. Albinism has long been associated with stigma and superstitions, such as the belief that a white man impregnated the mother or that the child is the ghost of a European colonist. Recently, a notion has emerged that albino body parts are good-luck charms or possess magical powers. These body parts may be sold for as much as $75,000 on the black market. As a result there have been over 100 albino murders in Tanzania, Burundi, and other parts of Africa in the past decade, which is now beginning to garner international attention and thus prompting novel legislation. To ameliorate the plight of individuals with albinism in Africa, a coordinated effort must be organized, involving medical professionals (dermatologists, ophthalmologists, oncologists), public health advocates and educators, social workers, human rights and antidiscrimination activists, law-enforcement agencies, and governmental support groups. The main issues that should be addressed include skin cancer prevention education, stigma and discrimination denouncement, and swift prosecution of albino hunters and their sponsors. PMID:21095532

  18. The early-stage diagnosis of albinic embryos by applying optical coherence tomography

    Science.gov (United States)

    Yang, Bor-Wen; Wang, Shih-Yuan; Wang, Yu-Yen; Cai, Jyun-Jhang; Chang, Chung-Hao

    2013-09-01

    Albinism is a kind of congenital disease of abnormal metabolism. Poecilia reticulata (guppy fish) is chosen as the model to study the development of albinic embryos as it is albinic, ovoviviparous and with short life period. This study proposed an imaging method for penetrative embryo investigation using optical coherence tomography. By imaging through guppy mother’s reproduction purse, we found the embryo’s eyes were the early-developed albinism features. As human’s ocular albinism typically appear at about four weeks old, it is the time to determine if an embryo will grow into an albino.

  19. Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids

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    Manga, P.; Ramsay, M.; Kromberg, J.; Jenkins, T. [Univ. of the Witwatersrand, Johannesburg (South Africa)

    1994-09-01

    Brown oculocutaneous albinism (BOCA) is an autosomal recessive disorder involving a decrease in pigment of the skin, hair and eyes as well as decreased visual acuity. Evidence from two families who have co-existent BOCA and tyrosinase-positive oculocutaneous albinism (ty-pos OCA), suggests that the two conditions are allelic. Ty-pos OCA has been mapped to chromosome 15q11-q12 and the gene has been confirmed to be the human homologue (P) of the mouse pink-eyed dilute gene (p). Seven markers known to be linked to the P gene, D15S11, D15S10, MS14, GABA3, GABA5, IR10 and pCMW-1, were used to construct haplotypes in 5 families with BOCA. The haplotype data was subjected to linkage analysis and a maximum lod score of 2.85 ({theta} 0.0) was obtained. It has been reported previously that BOCA, in an Afro-American, was due to the lack of tyrosinase-protein 1 (Trp-1) in melanocytes. Trp-1 has been excluded as the disease-causing locus in the southern African families by linkage analysis with D9S43. A lod score of -2.02 was obtained at {theta} = 0.02.

  20. First report of partial albinism in genus Thrichomys (Rodentia: Echimyidae

    Directory of Open Access Journals (Sweden)

    Antonio Carlos da S.A. Neves

    2014-01-01

    Full Text Available Reports about albinism in rodents are common. In the family Echimyidae, however, albinism is very rare. This is the second case of coat color variation reported within Echimyidae and the first for the genus Thrichomys. The pelages of Thrichomys pachyurus individuals with normal and variant coat color were observed under a fluorescent artificial light and were examined with a stereoscopic microscope. The descriptions of pelage color were based on the book "Color Standards and Color Nomenclature". The predominantly white pattern of coat color in individuals of T. pachyurus suggests a partial albinism caused by delay in migration time of melanoblasts from neural crest to epidermis. The habitat of T. pachyurus has a heavy vegetative cover, which offers natural protection against predators and high-quality nutrition.

  1. Mutational Analysis of Oculocutaneous Albinism: A Compact Review

    OpenAIRE

    2014-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are ...

  2. Basal cell carcinoma in oculo-cutaneous albinism

    Directory of Open Access Journals (Sweden)

    Ajay Kumar

    2016-06-01

    Full Text Available The basal cell carcinoma is the most common skin tumour especially affecting the white individuals worldwide. The exact incidence of basal cell carcinoma is not known from India but non melanoma skin cancers comprises about 1-2% of cutaneous tumour in India. The most common skin tumour is squamous cell carcinoma in albinism and the incidence of basal cell carcinoma is less. Hereby, we report a peculiar case of basal cell carcinoma in albinism to highlights the importance of early recognition and diagnosis of suspected lesions by performing histopathological examination in unusual circumstances. [Int J Res Med Sci 2016; 4(6.000: 2452-2454

  3. Changes in brain morphology in albinism reflect reduced visual acuity.

    Science.gov (United States)

    Bridge, Holly; von dem Hagen, Elisabeth A H; Davies, George; Chambers, Claire; Gouws, Andre; Hoffmann, Michael; Morland, Antony B

    2014-07-01

    Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. In addition to the lack of a foveal pit, there is a disruption to the routing of the nerve fibers crossing at the optic chiasm, resulting in excessive crossing of fibers to the contralateral hemisphere. However, very little is known about the effect of this misrouting on the structure of the post-chiasmatic visual pathway, and the occipital lobes in particular. Whole-brain analyses of cortical thickness in a large cohort of subjects with albinism showed an increase in cortical thickness, relative to control subjects, particularly in posterior V1, corresponding to the foveal representation. Furthermore, mean cortical thickness across entire V1 was significantly greater in these subjects compared to controls and negatively correlated with visual acuity in albinism. Additionally, the group with albinism showed decreased gyrification in the left ventral occipital lobe. While the increase in cortical thickness in V1, also found in congenitally blind subjects, has been interpreted to reflect a lack of pruning, the decreased gyrification in the ventral extrastriate cortex may reflect the reduced input to the foveal regions of the ventral visual stream. PMID:23039995

  4. Pediatric Patient with Oculocutaneous Albinism: A Case Report

    Directory of Open Access Journals (Sweden)

    Casandra Solis, OD

    2015-08-01

    Full Text Available Background: Oculocutaneous albinism (OCA is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA has normal development, intelligence, fertility, and lifespan. Case Report: A two-month-old female presented with a new-onset intermittent nystagmus. A complete vision exam resulted in a diagnosis of oculocutaneous albinism with nystagmus secondary to foveal hypoplasia. The findings were discussed with the parents, and a follow-up was scheduled. At the five-month follow-up, the patient was progressing well and had a reduction in the amplitude of her nystagmus. Conclusion: Oculocutaneous albinism is often discovered first with a visit to the eye care professional due to a recent onset of nystagmus. Foveal hypoplasia causes an onset of nystagmus between two and three months. Additional ocular manifestations include reduced visual acuity, strabismus, high refractive error, amblyopia, increased decussation of visual fibers, color vision defects, photophobia, transillumination, and hypopigmentation of the retinal pigmented epithelium. Assistance for the child with OCA consists of correcting the refractive error; amblyopia treatment when necessary; and concurrent physical, occupational, and low vision therapy. Communication and collaboration with other medical specialties is warranted throughout life.

  5. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2013-07-01

    Full Text Available André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 3Yaoundé Gynaeco-obstetric and Paediatric Hospital. Yaoundé, Cameroon; 4Faculty of Medicine, Université des Montagnes. Bangangté, CameroonBackground: Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision.Methods: We carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included.Results: Thirty-five patients (70 eyes diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%. Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction.Conclusion: Managing refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.Keywords: albinism, visual acuity, refraction, Cameroon

  6. Premolarized double dens in dente in albinism - A case report

    OpenAIRE

    Suprabha B

    2005-01-01

    Dens in dente are known to be associated with many dental abnormalities such as taurodontism microdontia, gemination, and dens evaginatus. This paper describes a rare case of double dens in dente in a lateral incisor with crown morphology similar to a premolar present in a patient with features of albinism. Problems associated with this condition and their management is discussed.

  7. Premolarized double dens in dente in albinism - A case report

    Directory of Open Access Journals (Sweden)

    Suprabha B

    2005-09-01

    Full Text Available Dens in dente are known to be associated with many dental abnormalities such as taurodontism microdontia, gemination, and dens evaginatus. This paper describes a rare case of double dens in dente in a lateral incisor with crown morphology similar to a premolar present in a patient with features of albinism. Problems associated with this condition and their management is discussed.

  8. Albinism in Botswana Junior Secondary Schools: A Double Case Study

    Science.gov (United States)

    Dart, Gareth; Nkanotsang, Tiroyaone; Chizwe, Ose; Kowa, Lily

    2010-01-01

    Pupils with albinism potentially face a number of challenges in accessing quality education in schools in Botswana. Physical issues such as poor eyesight related to the condition and the problems of sensitive skin in such a dry and warm climate are both contributing factors to making learning problematic for some pupils. This study by Gareth Dart…

  9. A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

    OpenAIRE

    Damé Maria Cecília; Xavier Gildenor; Oliveira-Filho José; Borges Alexandre; Oliveira Henrique; Riet-Correa Franklin; Schild Ana

    2012-01-01

    Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were phot...

  10. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

    OpenAIRE

    Giebel, L.B.; Strunk, K M; King, R A; Hanifin, J. M.; Spritz, R.A.

    1990-01-01

    We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.

  11. Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

    OpenAIRE

    Hu, F.; Hanifin, J. M.; Prescott, G H; Tongue, A C

    1980-01-01

    This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alle...

  12. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    Directory of Open Access Journals (Sweden)

    Relebohile Phatoli

    2015-02-01

    Full Text Available Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation.Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and ‘othering’. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof.

  13. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism

    OpenAIRE

    Manga, Prashiela; Orlow, Seth J.

    2011-01-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1–OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures...

  14. Management of visual disturbances in albinism: a case report

    Directory of Open Access Journals (Sweden)

    Omar Rokiah

    2012-09-01

    Full Text Available Abstract Introduction A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. Case presentation We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant vision, glare and her dissatisfaction with her current auto-focus spectacle-mounted telescope device, which she reported as being heavy as well as cosmetically unacceptable. We describe how low-vision rehabilitation using multiple visual aids, namely spectacles, special iris-tinted contact lenses with clear pupils, and bi-level telemicroscopic apparatus devices improved her quality of life. Subsequent to rehabilitation our patient is happier and continues to use the visual aids. Conclusions Contact lenses with a special iris tint and clear pupil area are useful aids to reduce the glare experienced by albinos. Bi-level telemicroscopic apparatus telemicroscopes fitted onto our patient’s prescription spectacles were cosmetically acceptable and able to improve her distance vision. As a result these low-vision rehabilitation approaches improved the quality of life of our albino patient.

  15. The Effects of the Physical Features Associated with Albinism on the Self-Esteem of African American Youths.

    Science.gov (United States)

    Gold, Moniqueka E.

    2002-01-01

    This study explored the effects of the physical features associated with albinism on three groups of African American youths (ages 14-19) with albinism: those with no disabilities, those with visual impairments, and those with oculocutaneous albinism. No significant differences in self-esteem were found among the three groups. (Contains…

  16. Myths, Stereotypes and Self-Perception: The Impact of Albinism on Self-Esteem

    Science.gov (United States)

    Palmer, Carolyn

    2007-01-01

    Albinism has the potential to affect young people both emotionally and psychologically. Their condition is unique and is surrounded by myths and stereotypes. The unusual appearance of children with oculocutaneous albinism draws attention to them and their vision impairment can impact on their development of social skills and peer relationships. In…

  17. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    OpenAIRE

    Wallis, C. E.; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  18. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

    OpenAIRE

    Spritz, R.A.; Strunk, K M; Hsieh, C L; G.S. Sekhon; Francke, U.

    1991-01-01

    We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.

  19. First record of partial albinism and scoliosis in Odontophrynus occidentalis tadpoles (Anura: Cycloramphidae

    Directory of Open Access Journals (Sweden)

    Eduardo Alfredo Sanabria

    2010-06-01

    Full Text Available Albinism has been widely reported for diverse group of vertebrates. However, scoliosis is a rare abnormality. In this work, the first record of partial albinism and scoliosis case in tadpole of the frog Odontophrynus occidentalis is being presented. The individual was captured in Quebrada de las Flores, Sierra Pie de Palo, Caucete Department, San Juan Province, Argentina.

  20. First record of partial albinism and scoliosis in Odontophrynus occidentalis tadpoles (Anura: Cycloramphidae)

    OpenAIRE

    Eduardo Alfredo Sanabria; Lorena Beatriz Quiroga; Alejandro Laspiur

    2010-01-01

    Albinism has been widely reported for diverse group of vertebrates. However, scoliosis is a rare abnormality. In this work, the first record of partial albinism and scoliosis case in tadpole of the frog Odontophrynus occidentalis is being presented. The individual was captured in Quebrada de las Flores, Sierra Pie de Palo, Caucete Department, San Juan Province, Argentina.

  1. Visual deficits in Nepalese patients with oculocutaneous albinism

    Science.gov (United States)

    Khanal, Safal; Pokharel, Amrit; Kandel, Himal

    2015-01-01

    Background Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. Methods This was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the Department of Ophthalmology at the Institute of Medicine, for ocular consultation between September 1, 2011 and December 1, 2013. Results Twenty-five cases (50 eyes) with OCA were enrolled in the study. All the participants had maximally reduced visual acuity (mean: 1.24 ± 0.50 logMAR). Myopic astigmatism was the most common refractive error (n = 17; 34%). 58% of all participants had with-the-rule astigmatism. Considering the spherical equivalent power, most of the eyes (n = 30; 60%) had myopia, with overall mean SE refractive error of −1.59 ± 5.39 D. Visual acuity improved significantly with refractive correction in place (paired sample t-test, p < 0.05). Horizontal pendular nystagmus was the most common nystagmus (n = 34 eyes; 68%). Alternating esotropia and alternating exotropia each were observed in 16% of participants who had strabismus (40% of all cases). The diaphanous iris, foveal hypoplasia and poliosis were the most consistent clinical features. Conclusion Patients with OCA present with a broad spectrum of visual deficits that impair the visual functions. Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism. PMID:25823539

  2. Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism.

    Science.gov (United States)

    Sinha, M K; Chhablani, J; Shah, B S; Narayanan, R; Jalali, S

    2016-03-01

    PurposeTo report the outcomes and surgical difficulties during rhegmatogenous retinal detachment (RRD) repair in patients with albinism.MethodsRetrospective analysis of 10 eyes of 9 patients with albinism that underwent RRD repair was performed. Collected data included demographic details, preoperative examination details, surgical procedure, surgical difficulties, anatomical, and visual outcomes. Outcome measures were retinal reattachment and visual acuity at the last follow-up.ResultsMean preoperative best-corrected visual acuity (BCVA) was logMAR (Logarithm of the Minimum Angle of Resolution) 2.15 (range 0.9-3.0) with preoperative localization of causative break in six eyes. One eye had proliferative vitreoretinopathy grade C1 preoperatively. Four eyes underwent scleral buckling (SB) and six underwent 20G pars plana vitrectomy (PPV) with silicone oil injection. Intraoperative complication as iatrogenic retinal break occurred in four eyes. For retinopexy during vitrectomy, endolaser delivery was possible in three out of six eyes, whereas three eyes had cryopexy. The mean follow-up was 12 months in SB group (range 1-12; median 12 months) and 5.33 months (range 1-12; median 3 months) in PPV group. Among vitrectomized eye, two eyes had recurrence at 3 months with oil in situ. Rest of the eyes had attached retina at last follow-up. Mean BCVA at last follow-up was logMAR -1.46 (range 0.7-2.0) with mean improvement of -0.57 logMAR.ConclusionsIdentification of break, induction of posterior vitreous detachment, and endolaser delivery may be difficult during RRD repair in patients with albinism. The incidence of PVR appeared less in these eyes. Both SB and PPV were efficacious and appear to be good surgical techniques for use in this patient population. PMID:26611845

  3. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

    OpenAIRE

    Giebel, L B; Tripathi, R. K.; Strunk, K M; Hanifin, J M; Jackson, C E; King, R A; Spritz, R A

    1991-01-01

    We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. In the second family, type IB OCA results from compound heterozygosity for a type IA OCA allele (codon 81 Pro----Leu) and a novel type IB allele (c...

  4. A sociological study of children with albinism at a special school in the Limpopo province

    Directory of Open Access Journals (Sweden)

    R.J. Gaigher

    2002-09-01

    Full Text Available This article maintains that it is the social context, as much as, and sometimes more than the physical condition, that largely structures and limits the lives of people with albinism. It deals with albinism from a sociological, rather than a medical perspective. Viewed as such the problems experiencing by affected people stem primarily not from their physical differences but from the way others respond to those differences and from the social and physical environments they have to cope with. The article is based on a study of 32 children with albinism from a special school in the Limpopo province. Educational, health and social problems, attitudes and perceptions about albinism were tested by way of structured interviews. The data reveal an acute lack of information about the causes and consequences of albinism. It projects it as a condition still deeply immersed in myths and superstition resulting in the stigmatising and rejection of affected people. It also discloses a physical environment which is preventing rather than supporting people with albinism from reaching their potential. It calls for a reorientation in dealing with albinism -away from just medical intervention to treating it as a social construct requiring a holistic approach.

  5. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

    Science.gov (United States)

    Lee, Susan; Schimmenti, Lisa A; King, Richard A; Brilliant, Murray; Anderson, Jennifer L; Schoonveld, Cheri; Summers, C Gail

    2015-12-01

    Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia. PMID:26691042

  6. Incomplete albinism in Discoglossus pictus (Otth, 1837)

    OpenAIRE

    Filippo Spadola; Gianni Insacco

    2010-01-01

    The authors present an incomplete albinism case in a Discoglossus pictus subject found in Sicily. This is the first note for Italian territory, the second for the species and the third for Discoglossus genus.

  7. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

    OpenAIRE

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. Objective The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Patients and Methods Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified...

  8. Two Cases of Burns in Children From French Guinea With Oculocutaneous Albinism

    OpenAIRE

    Valente, A; Caleffi, E.

    2010-01-01

    Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person’s physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photogenic injury. The two young patients reported, suffering from oculocutaneous albinism, developed firs...

  9. Presence of Fusion in Albinism after Strabismus Surgery Augmented with Botulinum Toxin (Type A) Injection

    OpenAIRE

    Tavakolizadeh, Sepideh; Farahi, Azadeh

    2013-01-01

    It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. It is po...

  10. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    OpenAIRE

    Relebohile Phatoli; Nontembeko Bila; Eleanor Ross

    2015-01-01

    Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation.Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability...

  11. A sociological study of children with albinism at a special school in the Limpopo province

    OpenAIRE

    R.J. Gaigher; Lund, P M; E. Makuya

    2002-01-01

    This article maintains that it is the social context, as much as, and sometimes more than the physical condition, that largely structures and limits the lives of people with albinism. It deals with albinism from a sociological, rather than a medical perspective. Viewed as such the problems experiencing by affected people stem primarily not from their physical differences but from the way others respond to those differences and from the social and physical environments they have to cope with. ...

  12. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    OpenAIRE

    Masuda N; Hasegawa T; Yamashita M; Ogata N

    2014-01-01

    Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair...

  13. Refinement of the localization of the X-linked ocular albinism gene

    Energy Technology Data Exchange (ETDEWEB)

    Bergen, A.A.B.; Zijp, P.; Schuurman, E.J.M.; Bleeker-Wagemakers, E.M.; Apkarian, P. (Netherlands Ophthalmic Research Inst., Amsterdam (Netherlands)); Ommen, G.J.B. van (Univ. of Leiden (Netherlands))

    1993-04-01

    Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. The authors present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)- DXS85-DXS16-Xcen. 14 refs., 1 fig.

  14. Psychiatric Morbidity among Subjects with Leprosy and Albinism in South East Nigeria: A Comparative Study

    OpenAIRE

    Attama, CM; Uwakwe, R.; Onyeama, GM; Igwe, MN

    2015-01-01

    Background: Skin, which is the largest organ in the body, carries immense psychological significance. Disfiguring skin disorders may impact negatively on the mental health of individuals. Aim: This study compared the psychiatric morbidity of subjects with leprosy and albinism. Subjects and Methods: One hundred subjects with leprosy and 100 with albinism were interviewed. Sociodemographic questionnaire and General Health Questionnaire (GHQ-28) assessed the sociodemographic characteristics and ...

  15. Oculocutaneous Albinism associated with Axenfeld’s Anomaly: Three case reports

    OpenAIRE

    Keshav, B. R.; Mohammed, Mahmood J; MAHMOOD, Nasir

    2010-01-01

    Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism.

  16. Arrested Development: High-Resolution Imaging of Foveal Morphology in Albinism

    OpenAIRE

    McAllister, John T.; Dubis, Adam M.; Tait, Diane M.; Ostler, Shawn; Rha, Jungtae; Stepien, Kimberly E; Summers, C. Gail; Carroll, Joseph

    2010-01-01

    Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood – there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsiveness to therapeutic intervention. Here, using spectral domain optical coherence tomography (SD-OCT...

  17. Partial albinism in a semi-isolated population of great reed warblers

    OpenAIRE

    Bensch, Staffan; Hansson, Bengt; Hasselquist, Dennis; B. Nielsen

    2000-01-01

    Albinism in birds is thought to result from the expression of recessive alleles that disrupt melanin pigmentation at feather development. We have studied great reed warblers Acrocephalus arundinaceus in a recently founded and increasing population in Sweden during 15 years for the presence of birds with albinistic feathers. The study population was founded in 1978 and the few cases of albinism was exclusively recorded during the first five pears of our study (1985-1989). This fits to the expe...

  18. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Directory of Open Access Journals (Sweden)

    Bakare Muideen O

    2008-02-01

    Full Text Available Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.

  19. Albinism and Developmental Delay: The Need to Test for 15q11–q13 deletion

    OpenAIRE

    Saadeh, Reem; Lisi, Emily C.; Batista, Denise A. S.; McIntosh, Iain; Hoover-Fong, Julie E.

    2007-01-01

    We report a 17-month-old African female with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, tremulous movements. P gene mutations within the Angelman/Prader-Willi syndrome critical region at 15q11–q13 cause oculocutaneous albinism type 2. Co-morbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinis...

  20. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

    Science.gov (United States)

    Manga, Prashiela; Orlow, Seth J

    2011-10-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation. PMID:21968107

  1. First record of partial albinism in two catfish species of Genidens (Siluriformes: Ariidae) in an estuary of Southern Brazil

    OpenAIRE

    Mateus Evangelista Leal; Uwe Horst Schulz; Pablo Lehmann Albornoz; Rodrigo Machado; Paulo Henrique Ott

    2013-01-01

    This study reports the first occurrence of partial albinism in two species of Ariidae: Genidens barbus and Genidens planifrons from an estuary of Southern Brazil. Possible causes of the simultaneous occurrence of three specimens with partial albinism are discussed, including random genetic alterations, chronic contamination effects and small effective population size, which may favor the expression of the recessive albino gene.

  2. Presence of fusion in albinism after strabismus surgery augmented with botulinum toxin (type a) injection.

    Science.gov (United States)

    Tavakolizadeh, Sepideh; Farahi, Azadeh

    2013-08-01

    It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. It is possible that patients with albinism and strabismus have binocular visual potential which appears after strabismus correction and provides appropriate postoperative alignment in the long term. Here we present two cases of clinically diagnosed oculocutaneous albinism, an 18-year-old girl and a 16-year-old boy, both with exotropia ≥40 prism diopter, who gained acceptable alignment and fusion after surgical correction of their strabismus as demonstrated on Bagolini testing. In cases of albinism accompanied by visual pathway abnormalities and strabismus, binocular visual potential is not impossible, and some levels can be expected. Thus, these patients, like other cases of strabismus, may benefit from treatment of strabismus at an earlier age to achieve appropriate alignment, cosmetic satisfaction, and a possibly increased chance of fusion. PMID:23908581

  3. Mutations of the tyrosinase gene produce autosomal recessive ocular albinism

    Energy Technology Data Exchange (ETDEWEB)

    King, R.A.; Summers, C.G.; Oetting, W.S. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    Albinism has historically been divided into ocular (OA) and oculocutaneous (OCA) types based on the presence or absence of clinically apparent skin and hair involvement in an individual with the ocular features of albinism. The major genes for OCA include the tyrosinase gene in OCA1 and the P gene in OCA2. X-linked and autosomal recessive OA have been described and the responsible genes have not been identified. We now present six Caucasian individuals who have the phenotype of autosomal recessive OA but who have OCA1 as shown by the presence of mutations of the tyrosinase. They had white or very light hair and white skin at birth, and cutaneous pigment developed in the first decade of life. At ages ranging from 1.5-23 years, hair color was dark blond to light brown. The skin had generalized pigment and well developed tan was present on the exposed arm and face skin of four. Iris pigment was present and iris translucency varied. Molecular analysis of the tyrosinase gene, using PCR amplification and direct di-deoxy sequencing showed the following mutations: E398Z/E398Q, P406S/g346a, R402E/T373K, ?/D383N, and H211N/T373K. The homozygous individual was not from a known consanguineous mating. T373K is the most common tyrosinase gene mutation in our laboratory. Three of these mutations are associated with a total loss of tyrosinase activity (g346a splice-site, T373K, and D383N), while four are associated with residual enzyme activity (H211N, R402E, E398Q, and P406S). These studies show that mutations of the tyrosinase gene can produce the phenotype of autosomal recessive OA in an individual who has normal amounts of cutaneous pigment and the ability to tan after birth. This extends the phenotypic range of OCA1 to normal cutaneous pigment after early childhood, and suggest that mutations of the tyrosinase gene account for a significant number of individuals with autosomal recessive OA.

  4. Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography.

    Science.gov (United States)

    Grigorian, Anahit; McKetton, Larissa; Schneider, Keith A

    2016-01-01

    In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest that fiber projections from LGN to the primary visual cortex (V1) are also reduced. Studying structural differences in the visual system of albinism can improve the understanding of the mechanism of misrouting and subsequent clinical applications. Diffusion data and tractography are useful for mapping the OR (optic radiation). This manuscript describes two algorithms for OR reconstruction in order to compare brain connectivity in albinism and controls.An MRI scanner with a 32-channel head coil was used to acquire structural scans. A T1-weighted 3D-MPRAGE sequence with 1 mm(3) isotropic voxel size was used to generate high-resolution images for V1 segmentation. Multiple proton density (PD) weighted images were acquired coronally for right and left LGN localization. Diffusion tensor imaging (DTI) scans were acquired with 64 diffusion directions. Both deterministic and probabilistic tracking methods were run and compared, with LGN as the seed mask and V1 as the target mask. Though DTI provides relatively poor spatial resolution, and accurate delineation of OR may be challenging due to its low fiber density, tractography has been shown to be advantageous both in research and clinically. Tract based spatial statistics (TBSS) revealed areas of significantly reduced white matter integrity within the OR in patients with albinism compared to controls. Pairwise comparisons revealed a significant reduction in LGN to V1 connectivity in albinism compared to controls. Comparing both tracking algorithms revealed common findings, strengthening the reliability of the technique. PMID:27585189

  5. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  6. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    J Saravanan

    2014-01-01

    Full Text Available A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

  7. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Ek, Jakob; Sand, Annie; Scheller, Rudolf; Bygum, Anette; Brixen, Kim; Brøndum-Nielsen, Karen; Rosenberg, Thomas

    2009-01-01

    PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients...... recessive ocular albinism (AROA) based on clinical findings was 55 to 45. CONCLUSIONS: TYR is the major OCA gene in Denmark, but several patients do not have mutations in the investigated genes. A relatively large fraction of patients were observed with AROA, and of those 52% had no mutations compared with...

  8. Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    OpenAIRE

    Grønskov, Karen; Dooley, Christopher M.; Østergaard, Elsebet; Kelsh, Robert N.; Hansen, Lars; Levesque, Mitchell P.; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L.; Rosenberg, Thomas

    2013-01-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2–q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that...

  9. [Albinism and the Range of Fundus Hypopigmentation, Macular Hypoplasia, and Nystagmus].

    Science.gov (United States)

    Preising, M N; Lorenz, B

    2016-03-01

    From the ophthalmological view, albinism is a disorder of reduced pigmentation of the retinal and irdial pigment epithelium and the iris and choroid stroma. The reduced pigmentation is accompanied by morphological changes in the retina and the optic nerve. The functional relationship of these morphological changes is not yet well understood. This review summarises the genetic causes of reduced pigment synthesis and impaired pigment distribution, and discusses the variability of expression of albinism symptoms, in the light of other disorders affecting retinal development. PMID:27011028

  10. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

    OpenAIRE

    Gershoni-Baruch, R; Rosenmann, A; Droetto, S; Holmes, S.; Tripathi, R K; Spritz, R.A.

    1994-01-01

    We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense...

  11. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

    Directory of Open Access Journals (Sweden)

    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  12. Basal cell carcinoma, oculo-cutaneous albinism and actinic keratosis in a native Indian

    OpenAIRE

    Kingshuk Chatterjee; Farhan Rasool; Anita Chaudhuri; Gautam Chatterjee; Sehgal, Virendra N; Navjeeven Singh

    2013-01-01

    The report highlights the occurrence of basal cell carcinoma in a native Indian with oculo-cutaneous albinism, an association not frequently encountered. The clinical and histopathological features, which assisted to form the diagnosis, are outlined. A high degree of suspicion and timely recognition of the potentially aggressive neoplasm, under this unusual circumstance, is the key to its diagnosis.

  13. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    OpenAIRE

    Bakare Muideen O; Ikegwuonu Nkeiruka N

    2008-01-01

    Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports ...

  14. A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

    Directory of Open Access Journals (Sweden)

    Damé Maria Cecília

    2012-07-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A, which leads to the conversion of tryptophan into a stop codon at residue 477. Conclusion This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

  15. Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review

    OpenAIRE

    Soumya Nambiar; Srikanth Ramasubramanian; Meenakshi Swaminathan

    2015-01-01

    We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  16. Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

    OpenAIRE

    Ellis, J. P.; Gray, A.; Richards, F

    1995-01-01

    Cases of Hermansky-Pudlak syndrome may present to the dermatologist, ophthalmologist or haematologist. Classically the diagnosis rests on the triad of oculocutaneous albinism, a bruising tendency and the presence of characteristic pigmented-containing cells in the bone marrow. Specific tests of platelet function can, however, suggest the diagnosis without recourse to invasive techniques. We describe the disease in two young sisters.

  17. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  18. First record of albinism in the smooth dogfish Mustelus Schimitti Springer, 1939 (Carcharhiniformes - Triakidae from Southern Brazil

    Directory of Open Access Journals (Sweden)

    Teixeira Simone Ferreira

    2002-01-01

    Full Text Available This paper reports on a subadult male specimen of the smooth dogfish, Mustelus schimitti, caught in the continental shelf of Rio Grande Sul, during winter of 1993, which exhibited the characteristics of total albinism.

  19. A Potential Benefit of Albinism in Astyanax Cavefish: Downregulation of the oca2 Gene Increases Tyrosine and Catecholamine Levels as an Alternative to Melanin Synthesis

    OpenAIRE

    Helena Bilandžija; Li Ma; Amy Parkhurst; Jeffery, William R

    2013-01-01

    Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish) and several albino cave-dwelling forms (cavefish), albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, incl...

  20. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet;

    2013-01-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family......, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional...... individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in...

  1. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

    Energy Technology Data Exchange (ETDEWEB)

    Gershoni-Baruch, R. (Technion-Israel Institute of Technology, Haifa (Israel)); Rosenmann, A. (Hadassah Medical Center, Jerusalem (Israel)); Droetto, S.; Holmes, S.; Tripathi, R.K.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States))

    1994-04-01

    The authors have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. They detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, they detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin. 28 refs., 1 fig., 2 tabs.

  2. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. (South African Institute for Medical Research, Johannesburg (South Africa)); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  3. X-linked ocular albinism and sensorineural deafness: Linkage to Xp22. 3

    Energy Technology Data Exchange (ETDEWEB)

    Winship, I.M.; Babaya, M.; Ramesar, R.S. (Univ. of Cape Town Medical School (South Africa))

    1993-11-01

    X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and deaf by early middle age. Classical X-linked ocular albinism (without deafness; OA1) has recently been linked to markers in the Xp22.2-Xp22.3 region of the human genome. In the present report, a large South African family with OASD was investigated at the molecular level and tight linkage was found to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.00. These findings suggest that OA1 and OASD are allelic variants or that they may be due to contiguous gene defects. 12 refs., 1 fig.

  4. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism

    OpenAIRE

    Ko, Jung Min; YANG, JUNG-AH; Jeong, Seon-Yong; Kim, Hyon-Ju

    2012-01-01

    Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 m...

  5. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

    OpenAIRE

    Richard A. King; Willaert, Rebecca K.; Schmidt, Ramona M.; Pietsch, Jacy; Savage, Sarah; Brott, Marcia J.; Fryer, James P.; Summers, C Gail; William S Oetting

    2003-01-01

    The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is dependent on the constitutional pigmentation background of the family, with more OCA pigm...

  6. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

    OpenAIRE

    Onojafe, Ighovie F.; Adams, David R; Simeonov, Dimitre R.; Zhang, Jun; Chan, Chi-Chao; Bernardini, Isa M.; Sergeev, Yuri V.; Dolinska, Monika B.; Alur, Ramakrishna P.; Brilliant, Murray H.; William A Gahl; Brooks, Brian P.

    2011-01-01

    Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with th...

  7. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    OpenAIRE

    Lund, P.; Taylor, Julie

    2008-01-01

    BACKGROUND: Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA) are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun pr...

  8. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    OpenAIRE

    Taylor Julie S; Lund Patricia M

    2008-01-01

    Abstract Background Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA) are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy o...

  9. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

    OpenAIRE

    Dotta, Laura; Parolini, Silvia; Prandini, Alberto; Tabellini, Giovanna; Antolini, Maddalena; Kingsmore, Stephen F.; Badolato, Raffaele

    2013-01-01

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain speciali...

  10. Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.

    OpenAIRE

    Castle, D; Kromberg, J; Kowalsky, R; Moosa, R.; Gillman, N.; Zwane, E.; Fritz, V

    1988-01-01

    Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is probably not useful in the detection of Negroes heterozygous for the gene for tyrosinase positive oc...

  11. Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family

    OpenAIRE

    H Pour-Jafari; A. Zamanian; B. Pour-Jafari

    2010-01-01

    "nBackground: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The muta­tion on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. "nMethods: Clinical exams and paraclinical test were performed for all patients of the case family, also proband, her husband, and her parents. Pedigree chart was drawn too...

  12. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

    OpenAIRE

    Saravanan, J.; Rajendraprasad, A.; Priyadharshni, S

    2014-01-01

    A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibr...

  13. Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

    Science.gov (United States)

    Manga, Prashiela; Kerr, Robyn; Ramsay, Michèle; Kromberg, Jennifer G R

    2013-12-01

    Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Despite the fact that multiple genes account for the various forms of OCA, the phenotypes of all four forms result from disruption in the maturation and trafficking of the enzyme tyrosinase. OCA2 is the most prevalent autosomal recessive disorder among southern African blacks, affecting 1/3 900 individuals; while OCA3, although rare, is most prevalent in southern Africa. Another common pigmentation disorder in southern Africa is vitiligo, which affects 1 - 2% of people worldwide. Vitiligo is a complex, acquired disorder in which melanocytes are destroyed due to an autoimmune response. The aetiology underlying this disorder is poorly understood, although recent genetic association studies have begun to shed light on the contributing factors. Pigmentation disorders have significant psychosocial implications and co-morbidities, yet therapies are still lacking. Recent progress in our understanding of the pathobiology of both albinism and vitiligo may herald novel treatment strategies for these disorders.  PMID:24300644

  14. Loss of binocular vision as direct cause for misrouting of temporal retinal fibers in albinism.

    Science.gov (United States)

    Banihani, Saleh M

    2015-10-01

    In humans, the nasal retina projects to the contralateral hemisphere, whereas the temporal retina projects ipsilaterally. The nasotemporal line that divides the retina into crossed and uncrossed parts coincides with the vertical meridian through the fovea. This normal projection of the retina is severely altered in albinism, in which the nasotemporal line shifted into the temporal retina with temporal retinal fibers cross the midline at the optic chiasm. This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. It is supported by many observations that clearly indicate that loss of binocular vision causes uncrossed retinal fibers to cross the midline. This hypothesis may alert scientists and clinicians to find ways to prevent or minimize the loss of binocular vision that may occur in some diseases such as albinism and early squint. Hopefully, this will minimize the misrouting of temporal fibers and improve vision in such diseases. PMID:26163060

  15. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

    Science.gov (United States)

    Dotta, Laura; Parolini, Silvia; Prandini, Alberto; Tabellini, Giovanna; Antolini, Maddalena; Kingsmore, Stephen F; Badolato, Raffaele

    2013-01-01

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic

  16. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

    OpenAIRE

    Spritz, R A; Fukai, K; Holmes, S A; Luande, J

    1995-01-01

    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of approximately 1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. On...

  17. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.

    OpenAIRE

    Ramsay, M; Colman, M A; Stevens, G; Zwane, E.; Kromberg, J; Farrall, M; Jenkins, T.

    1992-01-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 a...

  18. Albinism and lung fibrosis in a young man - the first case of adult Hermansky-Pudlak Syndrome reported in Malaysia.

    Science.gov (United States)

    Liza, A F; Aziah, A M

    2012-12-01

    A young gentleman of Indian descent with oculacutaneous albinism (OCA) was found to have severe pulmonary fibrosis at first presentation. Following investigations, he was diagnosed with Hermansky-Pudlak Syndrome (HPS). It is a genetic condition characterised by albinism, bleeding diathesis and multisystem disorder observed in individuals of particular descents. Although there is no curative treatment apart from lung transplantation, preventive measures to minimise pulmonary insult may change the natural history of the disease. Therefore HPS should be actively sought, monitored and risk factors addressed in individuals with OCA and bleeding diathesis particularly those of Indian descent as they may develop serious complications such as pulmonary fibrosis in the future. PMID:23770959

  19. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    OpenAIRE

    Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; BALOG, JOAN Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; William A Gahl; Brooks, Brian P.

    2013-01-01

    Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA muta...

  20. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

    Directory of Open Access Journals (Sweden)

    Yun Wang

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR and OCA2 gene, respectively.The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database.Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively. The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene may be responsible for partial clinical manifestations of OCA.

  1. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    Directory of Open Access Journals (Sweden)

    Taylor Julie S

    2008-06-01

    Full Text Available Abstract Background Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun protection strategies of children with albinism in order to inform future provision. Methods Community based participatory research methods were employed to investigate sun protection strategies in 90 pupils with OCA (40 female and 50 male boarding at a special school educating pupils with visual impairment in a rural area of northern South Africa. Hats worn and sunscreen preparations used were examined during semi-structured face to face interviews conducted in small peer groups. The resident nurse interpreted if necessary and provided additional information on monitoring and treatment of skin lesions. Results Participants with albinism in this study were exposed to high levels of ultraviolet radiation throughout the year and showed skin damage despite wearing protective head gear. All except one pupil possessed at least one hat, with a mean brim width of 5.4 cm. Gender differences in sun avoidance behaviour were documented, with females seeking shade during recreational periods and males playing soccer outside. Although 38% of pupils were using a sunscreen with a sun protection factor (SPF rating, only 12% had government sponsored tubes of SPF15 cream. Government sponsored sunscreen preparations were only provided if actively sought, involving time consuming trips to regional hospitals, with inadequate availability and insufficient supply. Conclusion Children with albinism living away from home in rural areas appear to have inadequate sun protection

  2. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

    Directory of Open Access Journals (Sweden)

    Naihong Yan

    Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

  3. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

    OpenAIRE

    Giebel, L.B.; Musarella, M A; Spritz, R.A.

    1991-01-01

    We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.

  4. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism

    OpenAIRE

    Markus N. Preising; Forster, Hedwig; Gonser, Miriam; Lorenz, Birgit

    2011-01-01

    Background A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence var...

  5. The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

    OpenAIRE

    Vetrini, Francesco; Auricchio, Alberto; Du, Jinyan; Angeletti, Barbara; Fisher, David E.; Ballabio, Andrea; Marigo, Valeria

    2004-01-01

    Melanogenesis is the process that regulates skin and eye pigmentation. Albinism, a genetic disease causing pigmentation defects and visual disorders, is caused by mutations in genes controlling either melanin synthesis or melanosome biogenesis. Here we show that a common transcriptional control regulates both of these processes. We performed an analysis of the regulatory region of Oa1, the murine homolog of the gene that is mutated in the X-linked form of ocular albinism, as Oa1's function af...

  6. A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population

    OpenAIRE

    Yi, Zanhua; Garrison, Nanibaa’; Cohen-Barak, Orit; Karafet, Tatiana M.; King, Richard A.; Erickson, Robert P.; Hammer, Michael F.; Brilliant, Murray H

    2002-01-01

    Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. There are four known types of OCA: OCA1–OCA4. The clinical manifestations of all types of OCA include skin and hair hypopigmentation and visual impairment. Although there are a few documented observations of high frequency of albinism among Native Americans, including the Hopi, Zuni, Kuna, Jemez, Laguna, San Juan, and Navajo, no causative molecular defect has been previously reported. In the present study, we show that alb...

  7. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

    Science.gov (United States)

    Young, Alejandra; Dandekar, Uma; Pan, Calvin; Sader, Avery; Zheng, Jie J; Lewis, Richard A; Farber, Debora B

    2016-01-01

    Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain's optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. Using the Agilent HaloPlex Target Enrichment System and next-generation sequencing (NGS) on the Illumina MiSeq platform, we identified 518 variants after rigorous filtering. Many of these variants were corroborated by Sanger sequencing. Overall, 98.8% coverage of the GNAI3 gene was obtained by the HaloPlex amplicons. Of all variants, 6 non-synonymous and 3 synonymous were in exons, 41 in a non-coding exon embedded in the 3' untranslated region (UTR), 6 in the 5' UTR, and 462 in introns. These variants included novel SNVs, insertions, deletions, and a frameshift mutation. All were found in at least one patient but none in control samples. Using computational methods, we modeled the GNAI3 protein and its non-synonymous exonic mutations and determined that several of these may be the cause of disease in the patients studied. Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism. PMID:27607449

  8. A candidate gene for X-linked Ocular Albinism (OA1)

    Energy Technology Data Exchange (ETDEWEB)

    Bassi, M.T.; Schiaffino, V.; Rugarli, E. [Baylor College of Medicine, Houston, TX (United States)

    1994-09-01

    Ocular Albinism of the Nettleship-Fall type 1 (OA1) is the most common form of ocular albinism. It is transmitted as an X-linked recessive trait with affected males showing severe reduction of visual acuity, nystagmus, strabismus, photophobia. Ophthalmologic examination reveals foveal hypoplasia, hypopigmentation of the retina and iris translucency. Microscopic examination of melanocytes suggests that the underlying defect in OA1 is an abnormality in melanosome formation. Recently we assembled a 350 kb cosmid contig spanning the entire critical region on Xp22.3, which measures approximately 110 kb. A minimum set of cosmids was used to identify transcribed sequences using both cDNA selection and exon amplification. Two putative exons recovered by exon amplification strategy were found to be highly conserved throughout evolution and, therefore, they were used as probes for the screening of fetal and adult retina cDNA libraries. This led to the isolation of clones spanning a full-length cDNA which measures 7.6 kb. Sequence analysis revealed that the predicted protein product shows homology with syntrophines and a Xenopus laevis apical protein. The gene covers approximately 170 kb of DNA and spans the entire critical region for OA1, being deleted in two patients with contiguous gene deletion including OA1 and in one patient with isolated OA1. Therefore, this new gene represents a very strong candidate for involvement in OA1 (an alternative, but unlikely possibility to be considered is that the true OA1 gene lies within an intron of the former). Northern analysis revealed very high level of expression in retina and melanoma. Unlike most Xp22.3 genes, this gene is conserved in the mouse. We are currently performing SSCP analysis and direct sequencing of exons on DNAs from approximately 60 unrelated patients with OA1 for mutation detection.

  9. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

    OpenAIRE

    Boissy, R. E.; Zhao, H.; Oetting, W S; Austin, L. M.; Wildenberg, S C; Boissy, Y. L.; Zhao, Y.; Sturm, R. A.; Hearing, V J; King, R A; Nordlund, J. J.

    1996-01-01

    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured from an African-American with OCA, who exhibited the phenotype of Brown OCA, and his normal fraternal twin. Melanocytes cultured from the patient with OCA and the normal twin appeared brown versus black, respectively. Melanocytes from both the patie...

  10. Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.; Fukai, K.; Holmes, S.A. [Univ. of Wisconsin, Madison, WI (United States)] [and others

    1995-06-01

    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of {approximately}1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for {approximately}77% of mutant alleles in this group of patients. 20 refs., 2 figs.

  11. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

    OpenAIRE

    Newton, J. M.; Cohen-Barak, Orit; Hagiwara, Nobuko; Gardner, John M.; Davisson, Muriel T.; Richard A. King; Brilliant, Murray H.

    2001-01-01

    Oculocutaneous albinism (OCA) affects ∼1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinas...

  12. Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

    OpenAIRE

    Hutton, Saunie M.; Spritz, Richard A.

    2008-01-01

    Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes. In humans, four genes have been associated with “classical” OCA and another 12 genes with syndromic forms of OCA. To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with “classical” OCA (TYR, OCA2, TYRP1, SLC...

  13. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

    OpenAIRE

    Tripathi, R. K.; Bundey, S; Musarella, M A; Droetto, S; Strunk, K M; Holmes, S A; Spritz, R A

    1993-01-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TY...

  14. Perceived effects of coloured overlays on reading material in persons with albinism

    Directory of Open Access Journals (Sweden)

    N. T. Makgaba

    2008-01-01

    Full Text Available Persons with albinism often complain of glare when reading. They may therefore benefit from coloured filter overlays just as they benefit from tinted lenses. The purpose of this study was to assess the effectof coloured overlays on print perception in persons with oculocutaneous albinism (OCA.   Fifty subjects were included in this study, their ages ranged from 12 to 31 years with a mean of 16.12 years (SD = ± 4.56 years.  Following refraction and subsequent compensation for refractive errors, subjective perception of print was examined with the subject looking at the Wilkins® reading rate test chart with and without colored filter overlay/s.  The subjects were asked to respond to questions previously used in a questionnaire by Wilkins (2001. The percentage frequencies of positive (beneficial responses were used to decide whether or not a particular overlay would enhance reading performance.  McNemar’s test was used to establish significant differences between responses to questions without and with overlays. All single overlays gave greater percentages of positive responses (92.0-97.2% than without overlay (85.2%.  The single overlay that provided the highest positive responses was blue (97.2% and the least was purple (92.0%. All double overlays, except grey/grey (82.0% gave greater positive responses than without overlay (85.2%. Aqua/blue gave the greatest positive responses (possible benefits (97.2%, followed by rose/rose (96.8%.  Comparing the responses without overlay with single and double overlays, the difference in responses to the five questions was only significant (p < 0.05 with regard to brightness of the surface. The results suggest that overlays provided a more glare-free reading surface than without an overlay. It was, therefore concluded that the best advantage of the coloured overlays was in glare reduction.  Although this study showed that there were more subjects who preferred single blue and aqua/blue double

  15. Two novel tyrosinase (TYR gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1.

    Directory of Open Access Journals (Sweden)

    Vadieh Ghodsinejad Kalahroudi

    Full Text Available Oculocutaneous albinism (OCA is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.

  16. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

    Science.gov (United States)

    Onojafe, Ighovie F; Adams, David R; Simeonov, Dimitre R; Zhang, Jun; Chan, Chi-Chao; Bernardini, Isa M; Sergeev, Yuri V; Dolinska, Monika B; Alur, Ramakrishna P; Brilliant, Murray H; Gahl, William A; Brooks, Brian P

    2011-10-01

    Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with the latter produce some melanin. We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1. Here, we tested this hypothesis in mice homozygous for either the Tyrc-2J null allele or the Tyrc-h allele, which model OCA-1A and OCA-1B, respectively. Only nitisinone-treated Tyrc-h/c-h mice manifested increased pigmentation in their fur and irides and had more pigmented melanosomes. High levels of tyrosine improved the stability and enzymatic function of the Tyrc-h protein and also increased overall melanin levels in melanocytes from a human with OCA-1B. These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss. PMID:21968110

  17. Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1.

    Science.gov (United States)

    Goshima, Yoshio; Nakamura, Fumio; Masukawa, Daiki; Chen, Sandy; Koga, Motokazu

    2014-01-01

    l-3,4-Dihydroxyphenylalanine (DOPA) is the metabolic precursor of dopamine, and the single most effective agent in the treatment of Parkinson's disease. One problem with DOPA therapy for Parkinson's disease is its cardiovascular side effects including hypotension and syncope, the underlying mechanisms of which are largely unknown. We proposed that DOPA is a neurotransmitter in the central nervous system, but specific receptors for DOPA had not been identified. Recently, the gene product of ocular albinism 1 (OA1) was shown to possess DOPA-binding activity. It was unknown, however, whether or not OA1 is responsible for the actions of DOPA itself. Immunohistochemical examination revealed that OA1 was expressed in the nucleus tractus solitarii (NTS). OA1-positive cells adjacent to tyrosine hydroxylase-positive cell bodies and nerve fibers were detected in the depressor sites of the NTS. OA1 knockdown using oa1-specific shRNA-adenovirus vectors in the NTS reduced the expression levels of OA1 in the NTS. The prior injection of the shRNA against OA1 suppressed the depressor and bradycardic responses to DOPA but not to glutamate in the NTS of anesthetized rats. Thus OA-1 is a functional receptor of DOPA in the NTS, which warrants reexamination of the mechanisms for the therapeutic and untoward actions of DOPA. PMID:25185585

  18. Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred

    Energy Technology Data Exchange (ETDEWEB)

    Charles, S.J.; Moore, A.T.; Barton, D.E.; Yates, J.R.W. (Addenbrooke' s Hospital, Cambridge (United Kingdom)); Green, J.S. (Memorial Univ. of Newfoundland, St. John' s (Canada))

    1993-04-01

    Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Z[sub max] = 21.96 at [theta] = 0.01, confidence interval (CI) 0.0005--0.05) and linkage to DXS85 (782; Z[sub max] = 17.60 at [theta] = 0.07, CI = 0.03--0.13) and DXS237 (GMGX9; Z[sub max] = 15.20 at [theta] = 0.08, CI = 0.03--0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10[sup 10]:1 over other locations for the disease locus. 11 refs., 1 fig., 1 tab.

  19. Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes

    Energy Technology Data Exchange (ETDEWEB)

    Schnur, R.E. [Children`s Hospital of Philadelphia, PA (United States)]|[Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Wick, P.A. [Children`s Hospital of Philadelphia, PA (United States); Bailey, C. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Rebbeck, T. [Fox Chase Cancer Center, Philadelphia, PA (United States); Weleber, R.G. [Oregon Health Sciences Univ., Portland, OR (United States); Wagstaff, J. [Boston Children`s Hospital, MA (United States); Grix, A.W. [Univ. of California, Davis, CA (United States); Pagon, R.A. [Children`s Hospital and Medical Center, Seattle, WA (United States); Hockey, A. [Princess Margaret Hospital, Perth (Australia); Edwards, M.J. [Newcastle Western Suburbs Hospital, Waratah (Australia)

    1994-09-01

    One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (MMGs); ocular features were identical to those of Nettleship-Falls OA1. Four other families had more unusual phenotypic features in addition to OA1. All OA1 families were genotyped at DXS16, DXS85, DXS143, STS, and DXS452 and for a CA-repeat polymorphism at the Kallmann syndrome locus (KAL). Separate two-point linkage analyses were performed for the following: group A, six families with biopsy-proved MMGs in at least one affected male; group B, four families whose biopsy status was not known; and group C, OA-9 only (16 samples), the family without MMGs. At the set of loci closest to OA1, there is no clear evidence in our data set for locus heterogeneity between groups A and C or among the four other families with complex phenotypes. Combined multipoint analysis (LINKMAP) in the 11 families and analysis of individual recombination events confirms that the major locus for OA1 resides within the DXS85-DXS143 interval. The authors suggest that more detailed clinical evaluations of OA1 individuals and families should be performed for future correlation with specific mutations in candidate OA1 genes. 29 refs., 5 figs., 4 tabs.

  20. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

    OpenAIRE

    P. T. Lekalakala; Khammissa, R. A. G.; Kramer, B; Ayo-Yusuf, O. A.; Lemmer, J.; Feller, L.

    2015-01-01

    Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressiv...

  1. A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

    OpenAIRE

    Yan, Naihong; Liao, Xuan; Cai, Su-Ping; Lan, Changjun; Wang, Yun; Zhou, Xiaomin; YIN, YAN; Yu, Wenhan; Liu, Xuyang

    2012-01-01

    Background The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. Methodology/Principal Findings Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) and G protein-coupled receptor 143 (GPR143) genes were amplified by polymerase chain reaction (PCR), se...

  2. Eight previously unidentified mutations found in the OA1 ocular albinism gene

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    Dufier Jean-Louis

    2006-04-01

    Full Text Available Abstract Background Ocular albinism type 1 (OA1 is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

  3. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

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    Paige A Winkler

    Full Text Available The first white Doberman pinscher (WDP dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1 produce a detailed description of the ocular phenotype of WDPs, (2 objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3 determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs; cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8 and 1/20 SDPs (p<0.00001. Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2. SLC45A2 was found to be linked to the phenotype and gene sequencing revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4∶77,062,968-77,067,051. This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC45A2 transcript levels by reverse transcriptase PCR. The WDP provides a valuable model for studying OCA4 visual disturbances and melanocytic neoplasms in a large animal model.

  4. Diagnóstico laboratorial do albinismo oculocutâneo Laboratory diagnosis of oculocutaneous albinism

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    Luciane de Melo Rocha

    2007-02-01

    Full Text Available OBJETIVO: Avaliar os métodos laboratoriais dos diferentes tipos de albinismo oculocutâneo (OCA 1 e OCA 2 de forma descritiva e analisar sua eficiência. MATERIAL E MÉTODO: O teste do bulbo capilar é um método químico usado para distinguir as duas formas, no entanto recentemente teve sua eficácia como teste padrão contestada. O avanço da biologia molecular permite a análise das mutações que causam o distúrbio e a sua localização gênica. CONCLUSÃO: O teste do bulbo é seguro apenas para o diagnóstico do OCA 1A, podendo ser usado como complemento de um método mais apurado. A análise molecular fornece um diagnóstico definitivo, permitindo distinguir OCA 1 de OCA 2, pois as mutações afetam genes em cromossomos diferentes.OBJECTIVES: To evaluate the laboratories methods of the oculocutaneous albinism (OCA 1and OCA 2 of descriptive form and to analyze its results. METHODS: The hair bulb test is a chemical method used to distinguish the two forms, however, recently had its effectiveness as an standard test contested. The advance of molecular biology allows the analysis of the mutations that cause the disturb and its genic location. CONCLUSIONS: The bulb test is secure only for the diagnosis of OCA 1A, being able to be used as complement of a more refined method. The molecular analysis supplies a diagnostic definitive allowing to distinguish OCA 1 from OCA 2, because the mutations affect genes in different chromosomes.

  5. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes. PMID:26818737

  6. Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

    OpenAIRE

    Walpole, I R; Mulcahy, M T

    1991-01-01

    A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.

  7. OCULAR FINDINGS IN PATIENTS WITH OCULOCUTANEOUS ALBINISM TYPE IA WITH G47D TYROSINASE GENE MUTATION IN PUERTO RICO: A Case Report

    OpenAIRE

    Rodríguez-Agramonte, Ferdinand; Natalio J. Izquierdo; Cadilla, Carmen

    2013-01-01

    Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico.

  8. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

    OpenAIRE

    Lauronen, L; Jalkanen, R.; J. Huttunen; Carlsson, E; Tuupanen, S.; Lindh, S; Forsius, H; Sankila, E-M; Alitalo, T

    2005-01-01

    Aim: To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to determine the mutation behind the disease.

  9. Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania – cross sectional study

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    Kiprono Samson K

    2012-07-01

    Full Text Available Abstract Background Skin flora varies from one site of the body to another. Individual’s health, age and gender determine the type and the density of skin flora. Methods A 1 cm2 of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35°C. The bacteria were identified by culturing on MacConkey agar, coagulase test, catalase test and gram staining. Swabs were obtained from 66 individuals affected by albinism and 31 individuals with normal skin pigmentation. Those with normal skin were either relatives or staying with the individuals affected by albinism who were recruited for the study. Results The mean age of the 97 recruited individuals was 30.6 (SD ± 14.9 years. The mean of the colony forming units was 1580.5 per cm2. Those affected by albinism had a significantly higher mean colony forming units (1680 CFU per cm2 as compared with 453.5 CFU per cm2 in those with normally pigmented skin (p = 0.023. The skin type and the severity of sun- damaged skin was significantly associated with a higher number of colony forming units (p = 0.038. Conclusion Individuals affected by albinism have a higher number of colony forming units which is associated with sun- damaged skin.

  10. Identification of a mutation in the tyrosinase related protein 1 (TRP1) gene associated with brown oculocutaneous albinism (OCA3)

    Energy Technology Data Exchange (ETDEWEB)

    Wildenberg, S.C.; Oetting, W.S.; Fryer, J.P. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    The genes responsible for the two most common types of human oculocutaneous albinism (OCA) have been identified. Mutations of the tyrosinase gene (chromosome 11q14-21) produce OCA1, and mutations of the P gene (chromosome 15q11.2-13) produce OCA2. Another type of OCA known as brown OCA or OCA3 is found commonly in the African and African-American population. OCA3 is characterized by light brown skin and hair with the ocular features of albinism and represents the third most frequent type of OCA. We previously identified dizygotic African-American twin boys who were discordant for OCA3. Melanocytes from the affected twin produced brown melanin and contained no detectable TRP1 protein. We have now characterized the TRP1 gene from the affected twin. The human TRP1 gene, homologous to the murine brown locus, contains 8 exons and maps to chromosome 9p23. Using PCR amplification of each exon coupled with SSCP analysis and direct DNA sequencing, we found the affected twin to homozygous for a single bp deletion in exon 6. The deletion removes a G in codon 368 leading to a premature stop at codon 384. We also identified a Tsp509 polymorphism in the 3{prime} UTR. We conclude that mutations of the TRP1 gene are responsible for brown OCA or OCA3, making this the third major OCA gene identified in humans.

  11. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism

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    Dorottya Pásztor

    2016-01-01

    Full Text Available In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with “open-sky” cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with “open-sky” cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases.

  12. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism.

    Science.gov (United States)

    Pásztor, Dorottya; Kolozsvári, Bence Lajos; Losonczy, Gergely; Fodor, Mariann

    2016-03-01

    In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with "open-sky" cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with "open-sky" cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases. PMID:27146942

  13. A novel form of {open_quotes}Tyrosinase-positive{close_quotes} oculocutaneous albinism

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, K.; Lee, S.T.; Bundey, S.; Spritz, R.A. [Univ. of Wisconsin, Madison, WI (United States)]|[Birmingham Maternity Hospital, Birmingham (United Kingdom)

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. We have shown that typical ty-pos OCA (OCA2) results from mutations of the P gene in chromosome segment 15q11-q13. We have also shown that some patients diagnosed with ty-pos OCA actually have mild forms of type I OCA (OCAI), resulting from mutations at the tyrosinase (TYR) gene at 11q14-q21. However, in about one-third of patients with ty-pos OCA we have failed to identify abnormalities of either the P or TYR genes, suggesting the possible existence of a third ty-pos OCA locus. To test this hypothesis, we investigated a large, complex, inbred Pakistani kindred. Affected individuals exhibit slight skin pigmentation with no tanning, hair that is silver at birth and darkens somewhat over time, brown irides, and reduced visual acuity with nystagmus. SSCP/heteroduplex screening and complete DNA sequence analysis of TYR gene in the proband identified no abnormalities, and analysis of a CA repeat in the TYR gene promoter showed no linkage of ty-pos OCA to this marker in this kindred. SSCP/ heteroduplex screening of the P gene also detected no abnormalities, and the (inbred) proband was heterozygous for numerous intragenic polymorphisms. These data thus exclude TYP and P. We next carried out genetic linkage analyses and homozygisty mapping using various SSLP repeats at the locations of the human homologues of the mouse brown (TYRP, 9p23), slaty (13q32), and silver (12pter-q21) genes, all of which are associated with generalized hypopigmentation in mutant animals. However, we found no evidence of linkage of any of these markers. We are currently carrying out similar analyses using markers near the putative locations of the human homologues of several other mouse hypopigmentation genes in an effort to map this novel human ty-pos OCA locus.

  14. Um albino parcial de veado campeiro (Ozotoceros bezoarticus, Linnaeus no Parque Nacional das Emas, Goiás Partial albinism in the pampas deer and a critical analysis about albino Mammals

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    Flávio H.G. Rodrigues

    1999-01-01

    Full Text Available A case of partial albinism in the pampas deer, recorded at the Emas National Park, Goiás, Brazil is described. The coat color and behaviour of the albino are compared with normal pampas deer.

  15. A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

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    Talebi

    2016-01-01

    Full Text Available Introduction Oculocutaneous albinism (OCA is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. Case Presentation In the present study, in order to verify OCA type 1A in a patient with clinical symptoms, and to study the variations of the TYR gene for the first time in southwest Iran, this gene was entirely sequenced. Conclusions A novel homozygous mutation, the deletion of exons 1 - 5 on the TYR gene, was found on the molecular genetic testing of this patient. Exon 1 - 5 deletion on TYR causes a lack of the tyrosinase enzyme and disturbs the melanin biosynthesis process.

  16. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

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    Jaworek Thomas J

    2012-06-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. Methods We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay. Results Screening of the TYR gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278* and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His in ten families. Ex vivo studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His tyrosinase in the endoplasmic reticulum (ER at 37°C, but a significant fraction of p.Cys35Arg and p.Tyr411His left the ER in cells grown at a permissive temperature (31°C. Three novel (p.Asp486Tyr, p.Leu527Arg, c.1045-15 T > G and two known mutations (p.Pro743Leu, p.Ala787Thr of OCA2 were found in fourteen families. Exon-trapping assays with a construct containing a novel c.1045-15 T > G mutation revealed an error in splicing. No mutation in TYRP1, SLC45A2, and SLC24A5 was found in the remaining 16 families. Clinical evaluation of the families segregating either TYR or OCA2 mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. Most of the affected individuals had grayish-blue colored eyes. Conclusions Our results show that ten and fourteen families harbored mutations in the TYR and OCA2 genes, respectively. Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278

  17. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

    OpenAIRE

    Kedda, M.A.; Stevens, G; Manga, P; Viljoen, C.; Jenkins, T; Ramsay, M.

    1994-01-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes are concordant within families, suggesting that there may be more than one mutation at the ty-pos OCA locus. Linkage studies carried out in 41 families have shown linkage betw...

  18. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis.

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    Helena Bilandžija

    Full Text Available Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish and several albino cave-dwelling forms (cavefish, albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, including feeding and sleep, which are under the control of the catecholamine system. The catecholamine and melanin synthesis pathways diverge after beginning with the same substrate, L-tyrosine. Here we describe a novel relationship between the catecholamine and melanin synthesis pathways in Astyanax. Our results show significant increases in L-tyrosine, dopamine, and norepinephrine in pre-feeding larvae and adult brains of Pachón cavefish relative to surface fish. In addition, norepinephrine is elevated in cavefish adult kidneys, which contain the teleost homologs of catecholamine synthesizing adrenal cells. We further show that the oca2 gene is expressed during surface fish development but is downregulated in cavefish embryos. A key finding is that knockdown of oca2 expression in surface fish embryos delays the development of pigmented melanophores and simultaneously increases L-tyrosine and dopamine. We conclude that a potential evolutionary benefit of albinism in Astyanax cavefish may be to provide surplus L-tyrosine as a precursor for the elevated catecholamine synthesis pathway, which could be important for adaptation to the challenging cave environment.

  19. The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.

    Science.gov (United States)

    Utzeri, V J; Bertolini, F; Ribani, A; Schiavo, G; Dall'Olio, S; Fontanesi, L

    2016-02-01

    A feral donkey population (Equus asinus), living in the Asinara National Park (an island north-west of Sardinia, Italy), includes a unique white albino donkey subpopulation or colour morph that is a major attraction of this park. Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species. In this study, we analysed the donkey TYR gene as a strong candidate to identify the causative mutation of the albinism of these donkeys. The TYR gene was sequenced from 13 donkeys (seven Asinara white albino and six coloured animals). Seven single nucleotide polymorphisms were identified. A missense mutation (c.604C>G; p.His202Asp) in a highly conserved amino acid position (even across kingdoms), which disrupts the first copper-binding site (CuA) of functional protein, was identified in the homozygous condition (G/G or D/D) in all Asinara white albino donkeys and in the albino son of a trio (the grey parents had genotype C/G or H/D), supporting the recessive mode of inheritance of this mutation. Genotyping 82 donkeys confirmed that Asinara albino donkeys had genotype G/G whereas all other coloured donkeys had genotype C/C or C/G. Across-population association between the c.604C>G genotypes and the albino coat colour was highly significant (P = 6.17E-18). The identification of the causative mutation of the albinism in the Asinara white donkeys might open new perspectives to study the dynamics of this putative deleterious allele in a feral population and to manage this interesting animal genetic resource. PMID:26763160

  20. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

    OpenAIRE

    Giebel, L.B.; Tripathi, R K; King, R A; Spritz, R.A.

    1991-01-01

    Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the t...

  1. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

    Directory of Open Access Journals (Sweden)

    P. T. Lekalakala

    2015-01-01

    Full Text Available Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment.

  2. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa.

    Science.gov (United States)

    Lekalakala, P T; Khammissa, R A G; Kramer, B; Ayo-Yusuf, O A; Lemmer, J; Feller, L

    2015-01-01

    Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment. PMID:26347819

  3. Tyrosinase-positive oculocutaneous albinism in Southern African blacks: P gene-associated haplotypes suggest a major mutation in the 5{prime} region of the gene

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Stevens, G.; Beukering, J. van [Univ. of the Witwatersrand, Johannesburg (South Africa)] [and others

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) occurs with a prevalence of 1 in 3900 among Southern African (SA) blacks. The major contributors to morbidity and mortality are skin cancer and decreased visual acuity. Two distinct phenotypes occur, namely individuals with ephelides (darkly pigmented patches) and those without. There is complete concordance with regard to ephelus status among siblings. The disorder is linked to markers on chromosome 15q11.2-q12, and no obligatory cross-overs were observed with polymophic markers at the human homolog, P, of the mouse pink eyed dilute gene, p. Contrary to what has been shown for Caucasoid ty-pos OCA, this condition shows locus homogeneity among SA blacks. The P gene is an excellent candidate for ty-pos OCA and mutations in this gene will confirm its role in causing the common form of albinism in SA. Numerous P gene mutations have been described in other populations. In an attempt to detect mutations, the P gene cDNA was used to search for structural rearrangements or polymorphisms. Six polymorphisms (plR10/Scal, 912/Xbal, 912/HincII, 912/TaqI, 1412/TaqI [two systems] and 1412/HindIII) were detected with subclones of the P cDNA and haplotypes were determined in each family. None were clearly associated with an albinism-related rearrangement. However, strong linkage disequilibrium was observed with alleles at loci toward the 5{prime} region of the gene ({triangle}=0.65, 0.57 and 0.80 for the three polymorphisms detected with the 912 subclone), suggesting a major ty-pos OCA mutation in this region. Haplotype analysis provides evidence for a major mutation associated with the same haplotype in individuals with ephelides (8/12 OCA chromosomes) and those without ephelides (24:30). The presence of other ty-pos OCA associated haplotypes indicates several other less common mutations.

  4. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2p ) in mice

    OpenAIRE

    SHOJI, Haruka; Kiniwa, Yukiko; Okuyama, Ryuhei; Yang, Mu; Higuchi, Keiichi; Mori, Masayuki

    2015-01-01

    The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2p ); however, the molecular genetic lesion underlying the original Oca2p allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, whic...

  5. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

    OpenAIRE

    Stevens, G; van Beukering, J; Jenkins, T; Ramsay, M.

    1995-01-01

    Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence...

  6. Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania – cross sectional study

    OpenAIRE

    Kiprono Samson K; Masenga John E; Chaula Baraka M; Naafs Bernard

    2012-01-01

    Abstract Background Skin flora varies from one site of the body to another. Individual’s health, age and gender determine the type and the density of skin flora. Methods A 1 cm2 of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35°C. The bacteria were identified by culturing on MacConkey agar, coagulase test, catalase test and gram staining. Swabs were obtained from 66 individuals affected by albinism and...

  7. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as {open_quotes}OCA3{close_quotes}

    Energy Technology Data Exchange (ETDEWEB)

    Boissy, R.E.; Zhao, H.; Austin, L.M.; Boissy, Y.L.; Zhao, Y. [Univ. of Cincinnati College of Medicine, OH (United States)] [and others

    1996-06-01

    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured from an African-American with OCA, who exhibited the phenotype of Brown OCA, and his normal fraternal twin. Melanocytes cultured from the patient with OCA and the normal twin appeared brown versus black, respectively. Melanocytes from both the patient with OCA and the normal twin demonstrated equal amounts of NP-40-soluble melanin; however, melanocytes from the patient with OCA contained only 7% of the amount of insoluble melanin found from the normal twin. Tyrosinase-related protein-1 (TRP-1) was not detected in the OCA melanocytes by use of various anti-TRP-1 probes. Furthermore, transcripts for TRP-1 were absent in cultured OCA melanocytes. The affected twin was homozygous for a single-bp deletion in exon 6, removing an A in codon 368 and leading to a premature stop at codon 384. Tyrosine hydroxylase activity of the OCA melanocytes was comparable to controls when assayed in cell lysates but was only 30% of controls when assayed in intact cells. We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as {open_quotes}OCA3.{close_quotes} 69 refs., 7 figs., 3 tabs.

  8. Detection of Gene Deletions in Children with Chondrodysplasia Punctata, Ichthyosis, Kallmann Syndrome, and Ocular Albinism by FISH Studies

    Directory of Open Access Journals (Sweden)

    Jia-Woei Hou

    2005-09-01

    Full Text Available Background: Contiguous gene syndrome (CGS is characterized by a series of clinical featuresresulting from interstitial or terminal deletions of various adjacentgenes. Several important genes have been identified in the Xp22.3 region tobe responsible for genetically heterogeneous diseases. In this study, fluorescencein situ hybridization (FISH methods were used to detect the extent ofgene deletion related to the phenotypes of patients with Xp-CGS.Methods: The molecular cytogenetic statuses of 23 boys with at least 1 apparent featureof chondrodysplasia punctata (CDP, ichthyosis, Kallmann syndrome, ortype 1 ocular albinism and those of their family members were investigated.High-resolution banding and FISH studies were performed using the probesof steroid sulfatase (STS, KAL1 and OA1, to detect the deleted status onXp22.3 in these patients along with their mothers and/or sisters or maternalgrandmothers.Results: All of these boys had normal karyotypes. FISH study showed nullisomy in 9of the 23 male patients and hemizygosity in all female carriers in the geneson Xp22.3. The existence of 2 or more diseases in the same individual indicatesa CGS. In addition, a putative mental retardation-related gene onXp22.3 locus was considered to be located between X-linked CDP and STS.Conclusions: The use of FISH probes for the Xp22.3 region allowed us to identify XlinkedCGSs, especially in those patients with 2 or more distinct clinical entitiesor an obvious X-linked disorder.

  9. A frequent tyrosinase gene mutation associated with type I-A (tyroinase-negative) oculocutaneous albinism in Puerto Rico

    Energy Technology Data Exchange (ETDEWEB)

    Oetting, W.S.; Witkop, C.J. Jr.; Brown, S.A.; Fryer, J.P.; Bloom, K.E.; King, R.A. (Univ. of Minnesota, Minneapolis (United States)); Colomer, R. (Servicio Medico de Empressa de la ONCE, Canary Islands (Spain))

    1993-01-01

    The authors have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon 47. Two individuals were heterozygous for the G47D mutation, with one having a missense mutation at codon 373 (T373K) in the homologous allele and the other having an undetermined mutation in the homologous allele. One individual with negroid features was homozygous for a nonsense mutation (W236X). The population migration between Puerto Rico and the Canary Islands is well recognized. Analysis of three individuals with OCA from the Canary Islands showed that one was a compound heterozygote for the G47D mutation and for a novel missense mutation (L216M), one was homozygous for a missense mutation (P81L), and one was heterozygous for the missense mutation P81L. The G47D and P81L missense mutations have been previously described in extended families in the United States. Haplotypes were determined using four polymorphisms linked to the tyrosinase locus. Haplotype analysis showed that the G47D mutation occurred on a single haplotype, consistent with a common founder for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes. 28 refs., 1 fig., 3 tabs.

  10. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

    Science.gov (United States)

    Straniero, Letizia; Rimoldi, Valeria; Soldà, Giulia; Mauri, Lucia; Manfredini, Emanuela; Andreucci, Elena; Bargiacchi, Sara; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Asselta, Rosanna; Primignani, Paola

    2015-09-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient. PMID:26016411

  11. Analysis of P gene mutations in patients with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Nicholls, R.D.; Schnur, R. [Univ. of Wisconsin, Madison, WI (United States)]|[Case Western Reserve Univ., Cleveland, OH (United States)]|[Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    OCA2 is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. Recently, we showed that OCA2 results from mutations of the P gene, in chromosome segment 15q11-q13. In addition to OCA2, mutations of P account for OCA associated with the Prader-Willi syndrome and some cases of {open_quotes}autosomal recessive ocular albinism{close_quotes} (AROA). We have now studied 38 unrelated patients with various forms of OCA2 or AROA from a variety of different ethnic groups. None of these patients had detectable abnormalities of the tyrosinase (TYR) gene. Among 8 African-American patients with OCA2 we observed apparent locus homogeneity. We detected abnormalities of the P gene in all 8 patients, including 12 different mutations and deletions, most of which are unique to this group and none of which is predominant. In contrast, OCA2 in other populations appears to be genetically heterogeneous. Among 21 Caucasian patients we detected abnormalities of the P gene in only 8, comprising 9 different point mutations and deletions, some of which also occurred among the African-American patients. Among 3 Middle-Eastern, 3 Indo-Pakistani, and 3 Asian patients we detected mutations of the P gene in only one from each group. In a large Indo-Pakistani kindred with OCA2 we have excluded both the TYR and P genes on the basis of genetic linkage. The prevalence of mutations of the P gene thus appears to be much higher among African-Americans with OCA2 than among patients from other ethnic groups. The incidence of OCA2 in some parts of equatorial Africa is extremely high, as frequent as 1 per 1100, and the disease has been linked to P in South African Bantu. The eventual characterization of P gene mutations in Africans will be informative with regard to the origins of P gene mutations in African-American patients.

  12. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

    Science.gov (United States)

    Tuli, Abbas M; Valenzuela, Robert K; Kamugisha, Erasmus; Brilliant, Murray H

    2012-12-01

    Oculocutaneous albinism type 2 (OCA2) is present at significantly higher frequencies in sub-Saharan African populations compared to populations in other regions of the world. In Tanzania and other sub-Saharan countries, most OCA2 is associated with a common 2.7kb deletion allele. Leprosy is also in high prevalence in sub-Saharan African populations. The infectious agent of leprosy, Mycobacterium leprae, contains a gene, 38L, that is similar to OCA2. Hypopigmented patches of skin are early symptoms that present with infection of leprosy. In consideration of both the genetic similarity of OCA2 and the 38L gene of M. leprae and the involvement of pigmentation in both disorders, we hypothesized that the high rates of OCA2 may be due to heterozygote advantage. Hence, we hypothesized that carriers of the 2.7kb deletion allele of OCA2 may provide a protective advantage from infection with leprosy. We tested this hypothesis by determining the carrier frequency of the 2.7kb deletion allele from a sample of 240 individuals with leprosy from Tanzania. The results were inconclusive due to the small sample size; however, they enabled us to rule out a large protective effect, but perhaps not a small advantage. Mycobacterium tuberculosis is another infectious organism prevalent in sub-Saharan Africa that contains a gene, arsenic-transport integral membrane protein that is also similar to OCA2. Interestingly, chromosomal region 15q11-13, which also contains OCA2, was reported to be linked to tuberculosis susceptibility. Although variants within OCA2 were tested for association, the 2.7kb deletion allele of OCA2 was not tested. This led us to hypothesize that the deletion allele may confer resistance to susceptibility. Confirmation of our hypothesis would enable development of novel pharmocogenetic therapies for the treatment of tuberculosis, which in turn, may enable development of drugs that target other pathogens that utilize a similar infection mechanism as M. tuberculosis

  13. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

    Energy Technology Data Exchange (ETDEWEB)

    Chintamaneni, C.D.; Kobayashi, Y.; Kwon, B.S. (Indiana Univ. School of Medicine, Indianapolis (United States)); Halaban, R. (Yale Univ. School of Medicine, New Haven, CT (United States)); Witkop, C.J. Jr. (Univ. of Minnesota, Minneapolis (United States))

    1991-06-15

    The authors have determined a molecular defect to be the likely basis for inactivity of the tyrosinase from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3{prime} end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was {approx} 3kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

  14. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.

    Science.gov (United States)

    Shoji, Haruka; Kiniwa, Yukiko; Okuyama, Ryuhei; Yang, Mu; Higuchi, Keiichi; Mori, Masayuki

    2015-01-01

    The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, which prompted us to undertake a molecular genetic analysis of the Oca2 gene of this strain. Our genetic linkage analysis suggests that the locus for the pink-eyed dilution phenotype of NCT is tightly linked to the Oca2 locus. PCR cloning and nucleotide sequence analysis indicates that the NCT mouse has a nonsense nucleotide substitution at exon 7 of the Oca2 gene. Examination of three mouse strains (NZW/NSlc, SJL/J, and 129X1/SvJJmsSlc) with the original Oca2(p) allele revealed the presence of a nonsense nucleotide substitution identical to that in the NCT strain. RT-PCR analysis revealed that the Oca2 transcripts were absent in the skin of NCT mice, suggesting intervention of the nonsense-mediated mRNA decay pathway. Collectively, the data in this study indicate that the nonsense nucleotide substitution in the Oca2 gene underlies the Oca2(p) allele. Our data also indicate that the NCT mouse can be used not only as a cataract model, but also as a model for human type II oculocutaneous albinism. PMID:25736709

  15. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

    Science.gov (United States)

    Schnur, R E; Trask, B J; van den Engh, G; Punnett, H H; Kistenmacher, M; Tomeo, M A; Naids, R E; Nussbaum, R L

    1989-11-01

    Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. The mother has patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Additional phenotypic abnormalities that have been observed in other STS "deletion syndromes" are not present in this family. STS is entirely deleted on Southern blot in the affected males, but the loci MIC2X, DXS31, DXS143, DXS85, DXS43, DXS9, and DXS41 are not deleted. At least part of DXS278 is retained. Flow cytometric analysis of cultured lymphoblasts from one of the XI/OA1 males and his mother detected a deletion of about 3.5 million bp or about 2% of the X chromosome. Southern blot and RFLP analysis in the XI/OA1 family support the order tel-[STS-OA1-DXS278]-DXS9-DXS41-cen. An unrelated patient with the karyotype 46,X,t(X;Y) (p22;q11) retains the DXS143 locus on the derivative X chromosome but loses DXS278, suggesting that DXS278 is the more distal locus and is close to an XI/OA1 deletion boundary. If a contiguous gene deletion is responsible for the observed XI/OA1 phenotype, it localizes OA1 to the Xp22.3 region. PMID:2573275

  16. Improving the efficiency of isolated microspore culture in six-row spring barley: II-exploring novel growth regulators to maximize embryogenesis and reduce albinism.

    Science.gov (United States)

    Esteves, Patricio; Clermont, Isabelle; Marchand, Suzanne; Belzile, François

    2014-06-01

    Two alternative cytokinins, thidiazuron and meta-topoline, were tested in isolated microspore culture on recalcitrant barley genotypes (six-row, spring), and green plant regeneration was improved substantially. Doubled-haploid (DH) plants are coveted in plant breeding and in genetic studies, since they are rapidly obtained and perfectly homozygous. In barley, DHs are produced mainly via androgenesis, and isolated microspore culture (IMC) constitutes the method offering the greatest potential efficiency. However, IMC can often be challenging in some genotypes because of low yield of microspores, low regeneration and high incidence of albinism. Six-row spring-type barleys, the predominant type grown in Eastern Canada, are considered recalcitrant in this regard. Our general objective was to optimize an IMC protocol for DH production in six-row spring barley. In particular, we explored the use of alternative hormones in the induction medium (thidiazuron and dicamba), and in the regeneration medium (meta-topoline). This optimization was performed on two typical six-row spring (ACCA and Léger), a two-row spring (Gobernadora) and a two-row winter (Igri) barley cultivar. When 6-benzyl-aminopurine (BAP) was replaced by a combination of thidiazuron and dicamba in the induction medium, a 5.1-fold increase (P IMC in this recalcitrant type of barley. These results were later successfully validated using sets of F1s from a six-row spring barley breeding program. PMID:24519013

  17. Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes.

    Science.gov (United States)

    Sun, LiLi; Wang, ZhiYing; Wu, HongQu; Liu, Peng; Zou, ChuanShan; Xue, XuTing; Cao, ChuanWang

    2016-01-01

    The ocular albinism type 1 gene, named OA1, is a coding pigment cell-specific G protein-coupled receptor exclusively localized in intracellular organelles. However, the function of OA1 in insects remains generally unknown. In the present study, we explore for the first time the function of LdOA1 in the Asian gypsy moth, Lymantria dispar. To identify the function of LdOA1 gene in the development and growth of the Asian gypsy moth, the LdOA1 gene in third instar larvae was knocked down by RNAi. Compared with the controls, the knockdown of LdOA1 increased larval mortality but did not significantly affect their utilization of nutrition. Moreover, LdOA1 was stably transformed into the third chromosome of Drosophila melanogaster. The LdOA1 gene in the transformed D. melanogaster modulated the expression of heat-shock protein (hsp) and increased the expression of hsp genes under deltamethrin stress, which indicates that LdOA1 is involved in the regulation of hsp gene expression. These results deepen our understanding of the molecular function of OA1 in insects. PMID:26778432

  18. Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy

    Science.gov (United States)

    Furrukh, Muhammad; Mufti, Taha; Hamid, Rana Shoaib; Qureshi, Asim

    2014-01-01

    We report a case of squamous cell carcinoma of external auditory canal in an Omani man with oculocutaneous albinism. The disease mimicked inflammatory process revealing positive cultures for various microorganisms during the course of his illness. He was eventually biopsied to rule out atypical infective process or presence of malignancy. He was staged as T4N0M0 and treated with radical doses of palliative radiation therapy which was very well tolerated and resulted in a complete resolution of disease clinically and a major soft tissue response on radiological imaging. Another unique finding was the absence of epidermal growth factor receptor (EGFR) protein overexpression in the tumour specimen. More than 90% of mucosal squamous cell carcinoma (SCC) involving the head and neck region overexpress the EGFR protein in normal skin patients. SCC is the predominant cutaneous malignancy in albinos, and the presence of EGFR protein overexpression in cutaneous SCC is believed to be 56–58% in normal skin patients. The scientific literature is scarce on reporting incidence of EGFR overexpression in either cutaneous or mucosal SCC in albinos, and it remains to be defined whether being albino is the cause for its absence. PMID:24907210

  19. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

    Science.gov (United States)

    Jalloul, Ali H; Rogasevskaia, Tatiana P; Szerencsei, Robert T; Schnetkamp, Paul P M

    2016-06-17

    K(+)-dependent Na(+)/Ca(2+) exchangers belong to the solute carrier 24 (SLC24A1-5) gene family of membrane transporters. Five different gene products (NCKX1-5) have been identified in humans, which play key roles in biological processes including vision, olfaction, and skin pigmentation. NCKXs are bi-directional membrane transporters that transport 1 Ca(2+)+K(+) ions in exchange for 4 Na(+) ions. Recent studies have linked mutations in the SLC24A4 (NCKX4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively. Here, we introduced mutations found in patients with AI and OCA6 into human SLC24A4 (NCKX4) cDNA leading to single residue substitutions in the mutant NCKX4 proteins. We measured NCKX-mediated Ca(2+) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells. Three mutant NCKX4 cDNAs represent mutations found in the SCL24A4 gene and three represent mutations found in the SCL24A5 gene involving residues conserved between NCKX4 and NCKX5. Five mutant proteins had no observable NCKX activity, whereas one mutation resulted in a 78% reduction in transport activity. Total protein expression and trafficking to the plasma membrane (the latter with one exception) were not affected in the HEK293 cell expression system. We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. The data presented here support the genetic analyses that mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human patients. PMID:27129268

  20. Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; ref status: indexed, http://f1000r.es/2lw

    Directory of Open Access Journals (Sweden)

    Mickaila Johnston

    2014-01-01

    Full Text Available Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.  For those rare cases in which metastases occur, approximately one third metastasize to the lung.  Case: Presented is a 62-year-old Caucasian male with oculocutaneous albinism and a history of basal cell carcinomas occurring in multiple anatomic sites, most recently at the bilateral forearm and back.  Surveillance PET/CT imaging led to the discovery of no less than 30 lung nodules which were consistent with basal cell carcinoma on biopsy.  Histological features were remarkably similar in both the primary tumor and in the metastases. Conclusion:  An unusual case of a non-head and neck primary basal cell carcinoma metastatic to the lung was discovered on surveillance PET/CT imaging, in a patient with oculocutaneous albinism.

  1. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.

    Science.gov (United States)

    Costin, Gertrude-E; Valencia, Julio C; Vieira, Wilfred D; Lamoreux, M Lynn; Hearing, Vincent J

    2003-08-01

    Oculocutaneous albinism (OCA) type 4 is a newly identified human autosomal recessive hypopigmentary disorder that disrupts pigmentation in the skin, hair and eyes. Three other forms of OCA have been previously characterized, each resulting from the aberrant processing and/or sorting of tyrosinase, the enzyme critical to pigment production in mammals. The disruption of tyrosinase trafficking occurs at the level of the endoplasmic reticulum (ER) in OCA1 and OCA3, but at the post-Golgi level in OCA2. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the membrane-associated transporter protein (MATP). To characterize OCA4, we investigated the processing and sorting of melanogenic proteins in primary melanocytes derived from uw/uw mice and from wild-type mice. OCA4 melanocytes were found to be constantly secreted into the medium dark vesicles that contain tyrosinase and two other melanogenic enzymes, Tyrp1 (tyrosinase-related protein 1) and Dct (DOPAchrome tautomerase); this secretory process is not seen in wild-type melanocytes. Although tyrosinase was synthesized at comparable rates in wild-type and in uw-mutant melanocytes, tyrosinase activity in uw-mutant melanocytes was only about 20% of that found in wild-type melanocytes, and was enriched only about threefold in melanosomes compared with the ninefold enrichment in wild-type melanocytes. OCA4 melanocytes showed a marked difference from wild-type melanocytes in that tyrosinase was abnormally secreted from the cells, a process similar to that seen in OCA2 melanocytes, which results from a mutation of the pink-eyed dilution (P) gene. The P protein and MATP have 12 transmembrane regions and are predicted to function as transporters. Ultrastructural analysis shows that the vesicles secreted from OCA4 melanocytes are mostly early stage melanosomes. Taken together, our results show that in OCA4 melanocytes, tyrosinase processing and intracellular trafficking to the

  2. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids

    Energy Technology Data Exchange (ETDEWEB)

    Kedda, M.A.; Stevens, G.; Manga, P.; Viljoen, C.; Jenkins, T.; Ramsay, M. (South African Institute for Medical Research, Johannesburg (South Africa) Univ. of Witwatersrand, Johannesburg (South Africa))

    1994-06-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes are concordant within families, suggesting that there may be more than one mutation at the ty-pos OCA locus. Linkage studies carried out in 41 families have shown linkage between markers in the Prader-Willi/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13 and ty-pos OCA. Analysis showed no obligatory crossovers between the alleles at the D15S12 locus and ty-pos OCA, suggesting that the D15S12 locus is very close to or part of the disease locus, which is postulated to be the human homologue, P, of the mouse pink-eyed dilution gene, p. Unlike caucasoid [open quotes]ty-pos OCA[close quotes] individuals, negroid ty-pos OCA individuals do not show any evidence of locus heterogeneity. Studies of allelic association between the polymorphic alleles detected at the D15S12 locus and ephelus status suggest that there was a single major mutation giving rise to ty-pos OCA without ephelides. There may, however, be two major mutations causing ty-pos OCA with ephelides, one associated with D15S12 allele 1 and the other associated with D15S12 allele 2. The two loci, GABRA5 and D15S24, flanking D15S12, are both hypervariable, and many different haplotypes were observed with the alleles at the three loci on both ty-pos OCA-associated chromosomes and [open quotes]normal[close quotes] chromosomes. No haplotype showed statistically significant association with ty-pos OCA, and thus none could be used to predict the origins of the ty-pos OCA mutations. On the basis of the D15S12 results, there is evidence for multiple ty-pos OCA mutations in southern African negroids. 31 refs., 1 fig., 3 tabs.

  3. Um caso de albinismo em tachã (Chauna Torquata, Oken (Aves, Anseniformes ocorrido na estação ecológica do Taím, Rio Grande do Sul, Brasil A case of albinism in Southern screamer (Chauna Torquata, Oken (Aves, Anseniformes occurred at the Ecological Station of Taim. Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Luiz Alberto Veiga

    1995-09-01

    Full Text Available It is described herein a case study of albinism in Chauna torquata Oken, 1816 (Southern screamer occurred at the Ecological Station of Taim, Rio Grande do Sul. Brazil. Screamers are birds of marshes, wet grasslands and forest lagoons. The bill is short and curved, the head is small and slender and the neek rather short. The strong wings are armed with two large, sharp spurs on their forward edge. The feet and legs are fleshy, the lower half of the tibia is bare, and the three long front toes show just a trace of webbing between them, They are often seen walking in pairs on the floating masses of vegetation or in large groups for feeding. The albino specimen described herein was observed feeding in the midst of a group of almost fifty birds. Their plumage was white but their legs and bill were normally red pigmented, and also presented a light grey ring on its neek. It did not represent a case of total albinism, in which pigment should be totally absent.

  4. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

    OpenAIRE

    Omgbwa Eballe, Andre

    2013-01-01

    André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 3Yaoundé Gynaeco-obstetric and Paediatric Hospital. Yaoundé, Cameroon; 4Faculty of Medicine, Université des Montagnes. Ban...

  5. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

    OpenAIRE

    Eballé AO; Mvogo CE; Noche C; Zoua ME; Dohvoma AV

    2013-01-01

    André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 3Yaoundé Gynaeco-obstetric and Paediatric Hospital. Yaoundé, Cameroon; 4Faculty of Medicine, Université des Montagnes. Bangangté, CameroonBackgroun...

  6. The tyrosinase gene family and albinism in fish

    Institute of Scientific and Technical Information of China (English)

    WANG Jiaqing; HOU Lin; ZHANG Ruifeng; ZHAO Xintao; JIANG Lijuan; SUN Wenjing; AN Jialu; LI Xiaoyan

    2007-01-01

    Tyrosinase exists universally in organisms and is a characterstic enzyme of melanocytes.Tyrosinase family genes in vertebrates consist of 3 related members; tyrosinase (TYR, Tyr),tyrosinase-related protein-1 (TRP-1, Tyrpl), and tyrosinase-related protein-2 (TRP-2, Tyrp2, Dct). These proteins catalyze melanin biosynthesis in pigment cells and play important roles in determining vertebrate coloration. Transcription of the TYR and TRP genes is useful for studying neural crest and optic vesicle cell migration and differentiation during embryogenesis and important in pigment rescue in fish. In this paper, the structure of gene and protein molecular evolution, function and roles of the TYR family in fish were reviewed.

  7. Basosquamous carcinoma in an Indian patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Ranjan Nitin

    2009-01-01

    Full Text Available A middle-aged man with type IA OCA presented to us with a large ulcerated plaque of three year duration over the forehead. Histopathology showed basosquamous carcinoma in the form of distinct areas of basal and squamous differentiation. Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment.

  8. Basosquamous carcinoma in an Indian patient with oculocutaneous albinism

    OpenAIRE

    Ranjan Nitin; Singh Satyendra; Arif Sayeedul

    2009-01-01

    A middle-aged man with type IA OCA presented to us with a large ulcerated plaque of three year duration over the forehead. Histopathology showed basosquamous carcinoma in the form of distinct areas of basal and squamous differentiation. Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment.

  9. Diagnóstico laboratorial do albinismo oculocutâneo Laboratory diagnosis of oculocutaneous albinism

    OpenAIRE

    Luciane de Melo Rocha; Lilia Maria de Azevedo Moreira

    2007-01-01

    OBJETIVO: Avaliar os métodos laboratoriais dos diferentes tipos de albinismo oculocutâneo (OCA 1 e OCA 2) de forma descritiva e analisar sua eficiência. MATERIAL E MÉTODO: O teste do bulbo capilar é um método químico usado para distinguir as duas formas, no entanto recentemente teve sua eficácia como teste padrão contestada. O avanço da biologia molecular permite a análise das mutações que causam o distúrbio e a sua localização gênica. CONCLUSÃO: O teste do bulbo é seguro apenas para o diagnó...

  10. Type I oculocutaneous albinism (OCA1) associated with a large deletion of the tyrosinase (TYR) gene

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.A.; Wick, P.A.; Holmes, S.A.; Schnur, R.E. [Univ. of Wisconsin, Madison, WI (United States)]|[Children`s Hospital of Philadelphia, PA (United States)

    1994-09-01

    OCA1 is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes, due to deficient enzymatic activity of tyrosinase. TYR consists of 5 exons spanning over 65 kb at 11q14-q21. Analyses of TYR in >400 unrelated patients with OCA1 have identified more than 50 different point mutations; however, no large deletions have been detected. Here we report a large deletion of TYR in a Caucasian boy with OCA1B. Simultaneous SSCP/heteroduplex screening and DNA sequence analysis indicated that the patient was apparently homozygous for a previously described TYR mutation, adjacent to the 3` splice site of IVS2 (-7, t{r_arrow}a). To distinguish between possible gene deletion vs. maternal uniparental isodisomy, we characterized several chromosome 11 polymorphisms. Maternal uniparental isodisomy was excluded by the patient`s heterozygosity for alleles at D11S35 (11q21-122) and HBG2 (11p15.5). In addition, the patient failed to inherit paternal alleles at an MboI RFLP in exon 1 of TYR and at a TaqI RFLP in the promoter region of the gene. To detect a possible submicroscopic deletion, we performed quantitative Southern blot hybridization using a full length TYR cDNA. Compared with controls, both the patient and his father appeared deleted for two or three TYR-derived PstI fragments; the two TYRL-derived fragments appeared normal. These data indicate that the patient and his father have a partial TYR deletion, including at least exons 1, 2, and IVS2. Based on the organization of the gene, this deletion is at least 50 kb in size. The patient is thus hemizygous for the maternally-inherited mutation in IVS2, accounting for his OCA1B phenotype.

  11. Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

    Science.gov (United States)

    Dinakar, Chitra; Lewin, S; Kumar, Karuna R; Harshad, Sujatha R

    2003-10-01

    A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures. PMID:14581742

  12. Carotenoid-enriched microalgal biomass as feed supplement for freshwater ornamentals: albinic form of wels catfish (Silurus glanis)

    Czech Academy of Sciences Publication Activity Database

    Zaťková, I.; Sergejevová, M.; Urban, J.; Vachta, R.; Štys, Dalibor; Masojídek, Jiří

    2011-01-01

    Roč. 17, č. 3 (2011), s. 278-286. ISSN 1353-5773 R&D Projects: GA ČR GA521/09/0656 Institutional research plan: CEZ:AV0Z50200510 Keywords : carotenoid * Chlorella * microalga Subject RIV: EE - Microbiology, Virology Impact factor: 2.179, year: 2011

  13. Disease: H00169 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00169 Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type I...a, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II

  14. Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation

    DEFF Research Database (Denmark)

    Anistoroaei, Razvan Marian; Fredholm, Merete; Christensen, Knud;

    2008-01-01

    sequences from wild-type and albino mink samples identified a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon (c.138T>A, p.C46X; EU627590). The mutation truncates more than 90% of the normal gene product including the putative catalytic domains. The results...

  15. Morphological and Molecular Characterization of Dietary-Induced Pseudo-Albinism during Post-Embryonic Development of Solea senegalensis (Kaup, 1858)

    Science.gov (United States)

    Darias, Maria J.; Andree, Karl B.; Boglino, Anaïs; Rotllant, Josep; Cerdá-Reverter, José Miguel; Estévez, Alicia; Gisbert, Enric

    2013-01-01

    The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858) larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA). The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores. PMID:23874785

  16. Morphological and molecular characterization of dietary-induced pseudo-albinism during post-embryonic development of Solea senegalensis (Kaup, 1858.

    Directory of Open Access Journals (Sweden)

    Maria J Darias

    Full Text Available The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858 larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA. The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores.

  17. Senegalese sole (Solea senegalensis) metamorphic larvae are more sensitive to pseudo-albinism induced by high dietary arachidonic acid levels than post-metamorphic larvae

    OpenAIRE

    Boglino, A.; Wishkerman, A.; Darias, Maria Jose; de la Iglesia, P.; Andree, K. B.; Gisbert, E; Estevez, A

    2014-01-01

    High dietary levels of arachidonic acid (ARA) and its relative proportions with eicosapentaenoic acid (EPA), fed during early larval stages, have been associated with malpigmentation in various flatfish species. This study investigated whether the nutritional induction of pigmentary disorders at larval stages was related to a specific larval period of increased sensitivity to ARA in Senegalese sole (Solea senegalensis Kaup, 1858). Senegalese sole larvae were fed high dietary ARA levels during...

  18. Nevoid malignant melanoma in an albino woman

    OpenAIRE

    Binesh, F; Akhavan, A; Navabii, H

    2010-01-01

    Albinism is a disorder of hypopigmentation affecting the skin, hair and eyes. Ultraviolet light induced cutaneous tumours are common in patients with albinism due to reduced or absent protection from melanin, with squamous cell carcinoma being the most common. Although non-melanomatous skin cancers are more frequent in patients with albinism, dysplastic nevi and melanoma present a greater diagnostic challenge in this group because of their hypopigmented appearance. Here the authors report a c...

  19. The 'evil albino' stereotype: an impediment to the right to equality.

    Science.gov (United States)

    Mswela, Maureen

    2013-03-01

    This article address the 'evil albino' plot device or albino bias as portrayed in films and explores how such labelling stimulates societal intolerance and discrimination against People Living With Albinism. The article reveals how media perpetuates stereotypes of albinism through their portrayal of role players and argues that the continued existence of such stereotypes is a failure to see albinism for what it is: a medical condition. The article further discusses Albinism related stigma and discrimination against the backdrop of the 'evil albino' plot device. PMID:23781766

  20. GABA(A) Receptor Alpha5 Subunit as a Candidate Gene for Autism and Bipolar Disorder: A Proposed Endophenotype with Parent-of-Origin and Gain-of-Function Features, with or without Oculocutaneous Albinism

    Science.gov (United States)

    Delong, Robert

    2007-01-01

    Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective…

  1. "They Think They Know What's Best for Me": An Interpretative Phenomenological Analysis of the Experience of Inclusion and Support in High School for Vision-Impaired Students with Albinism

    Science.gov (United States)

    Thurston, Mhairi

    2014-01-01

    The challenges of social inclusion and access to the curriculum facing students with visual impairment in schools are well documented. The refreshed UK Vision Strategy (2013) seeks to improve education for students with vision impairment. In order to do this, it is important to understand how students with visual impairment experience education.…

  2. 75 FR 77884 - Government-Owned Inventions; Availability for Licensing

    Science.gov (United States)

    2010-12-14

    ... characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. Certain forms of albinism... lacking in the eyes, skin and hair. In ocular albinism, only the eyes lack pigment. Patients with...

  3. Increasing the complexity

    DEFF Research Database (Denmark)

    Montoliu, Lluís; Grønskov, Karen; Wei, Ai-Hua;

    2014-01-01

    Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism,...

  4. Disease: H00168 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00168 Oculocutaneous albinism (OCA) Oculocutaneous albinism is a genetically heterogeneous cong ... lism hsa04916(7299+7306) Melanogenesis (OCA1) TYR; tyrosinase ... [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] (OCA ... 3) TYRP1; tyrosinase -related protein 1 [HSA:7306] [KO:K00506] (OCA4) SL ...

  5. Genetics Home Reference: Chediak-Higashi syndrome

    Science.gov (United States)

    ... melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is ...

  6. Skin Pigment

    Science.gov (United States)

    ... This Article Medical Dictionary Also of Interest (Quiz) Vitiligo (Video) Hives Additional Content Medical News Overview of ... Version Pigment Disorders Overview of Skin Pigment Albinism Vitiligo Hyperpigmentation Melasma Melanin is the brown pigment that ...

  7. Disease and Evolution.

    Science.gov (United States)

    Wells, Calvin

    1978-01-01

    Discusses disease and genetic disorders as evolutionary mechanisms. Emphasizes the archeological evidence from past human populations and societies, mentioning albinism, scurvy, sleeping sickness, bone conditions, various host-parasite relationships, rickets, sickle-cell anemia, diabetes, and influenza. (CS)

  8. Disease: H01218 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available comprising congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficien...rtner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome

  9. Your Skin

    Science.gov (United States)

    ... Be Safe When You're in the Sun Albinism Checking Out Cuts, Scratches, and Abrasions Abscess Eek! ... purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  10. Chediak-Higashi syndrome

    Science.gov (United States)

    ... condition may have: Silver hair, light-colored eyes (albinism) Increased infections in the lungs, skin, and mucous ... There is no specific treatment for Chediak-Higashi syndrome. Bone ... the disease appear to have been successful in several patients. ...

  11. Disease: H01187 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01187 Tietz syndrome; Albinism-deafness syndrome Tietz syndrome is an autosomal do...minant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of ...20 (2010) PMID:10851256 (description, gene) Smith SD, Kelley PM, Kenyon JB, Hoover D Tietz syndrome (hypopigmentation/deafness... Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM Mutation of the MITF gene in albinism-deafness

  12. Ostracism of an Albino Individual by a Group of Pigmented Catfish

    OpenAIRE

    Ondřej Slavík; Pavel Horký; Matúš Maciak

    2015-01-01

    Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain un...

  13. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

    OpenAIRE

    Prado-Martinez, Javier; Hernando-Herraez, Irene; Lorente-Galdos, Belen; Dabad, Marc; Ramirez, Oscar; Baeza-Delgado, Carlos; Morcillo-Suarez, Carlos; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernandez-Callejo, Marcos; Valles, Mònica; Ritscher, Lars; Schöneberg, Torsten

    2013-01-01

    Background The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher ...

  14. Um caso de albinismo em Tayassu tajacu Linnaeus (Artiodactyla, Tayassuidae na Serra do Mar, São José dos Pinhais, Paraná A case of albinism in Tayassu tajacu Linnaeus (Artiodactyla, Tayassuidae in Serra do Mar, São José dos Pinhais, Paraná

    Directory of Open Access Journals (Sweden)

    L. A. Veiga

    1994-01-01

    Full Text Available Described herein is a case of alhinism in lhe Peccary Tayassu tajacu Linnaeus. 1758 (Artiodaclyla. Tayassuidae. which was observed in Colônia Castelhanos. São José dos Pinhais. Paraná, in lhe Southern Bra/il. The specimen was caplured when very young. The normal peccary (Tayassu tajacu is a dark-gray animal wilh a while hand across the ehest from shoulder Io shoulder. This animal have while skin. hlued eyes bul has pigmented feet.

  15. A RARE CASE OF GRISCELLI’S SYNDROME WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Narayan Reddy

    2014-06-01

    Full Text Available INTRODUCTION: Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism and immunodeficiency. The characteristic features include silver hair due to clumped melanosomes in hair shaft. Other features include hepatospleenomegaly, hepatitis, pancytopenia and immune abnormalities. CASE REPORT: A seven years old male child presented with partial albinic features and history of recurrent respiratory tract infection. The child had fever since 2months along with hepatospleenomegaly, pancytopenia and thrombocytopenic purpura. These rare clinical manifestations were diagnosed as GS which was confirmed by bone marrow biopsy and light microscopy of hair shaft. The mean patient age of survival is 5years. As early diagnosis can improve the outcome in such cases, a finding of partial albinism should alert the diagnosis of Griscelli’s syndrome. CONCLUSION: We report a rare case of GS with characteristic manifestation surviving beyond the mean age of reported survival.

  16. A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes) with confirmation of species identity using cytogenetic analysis

    OpenAIRE

    Nogueira, Denise M; Maria Alice S. Alves

    2011-01-01

    Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological fe...

  17. Skin cancers in albinos in a teaching Hospital in eastern Nigeria - presentation and challenges of care

    OpenAIRE

    Opara Kingsley O; Jiburum Bernard C

    2010-01-01

    Abstract Background Albinism is a genetic disorder characterized by lack of skin pigmentation. It has a worldwide distribution but is commoner in areas close to the equator like Nigeria. Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. Challenges faced in the care of these patients need to be highlighted in order to develop a holistic management approach with a significant public health impact. The aim of the study was to ...

  18. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian MD

    2009-01-01

    Full Text Available Abstract:Griscelli syndrome (GS is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism.

  19. Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino

    Directory of Open Access Journals (Sweden)

    Ramalingam Vijaya

    2009-01-01

    Full Text Available A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration. He gave a preceding history of a similar lump in the right thigh, which was excised at the Chennai Government Hospital. He was diagnosed to have oculocutaneous albinism with actinic keratoses, with multiple squamous cell carcinomas (with metastatic deposits in the right inguinal region and cutaneous horns. The case is reported to highlight preventive aspects in the management of albinos.

  20. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafn

  1. Chediak-Higashi syndrome.

    Science.gov (United States)

    Kumar, P; Rao, K S; Shashikala, P; Chandrashekar, H R; Banapurmath, C R

    2000-08-01

    A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome. PMID:10985003

  2. Disease: H00823 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available on disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait. Con...crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56:322-6 (1995) ...

  3. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Mukhopadhyay, A.; Chatterjee, S.; Das, M.; Samanta, S.; Ray, K.

    2005-01-01

    PURPOSE: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye. It is one of the major causes of childhood blindness in India. The disease is common among an

  4. Case report : a black and white twin

    NARCIS (Netherlands)

    Claas, M. J.; Timmermans, A.; Bruinse, H. W.

    2010-01-01

    Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negr

  5. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Sengupta, M.; Mukhopadhyay, A.; Subba Rao, I.; Majumder, P.P.; Das, M.; Samanta, S.; Ray, K.

    2006-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by an abnormally low amount of melanin in the eyes, skin and hair, and associated with common developmental abnormalities of the eye. Defects in the tyrosinase gene (TYR) cause a common type of OCA,

  6. Eesti munitsipaalpolitsei Lääne taustal / Allan Alaküla

    Index Scriptorium Estoniae

    Alaküla, Allan, 1968-

    2002-01-01

    Ilmunud ka: Stolitsa 5. dets. lk. 1. Riigikogu liikmete ja Euroopa politsei- ja omavalitsustegelaste arvamused munitsipaalpolitseist: Jaanus Männik, Keith Whitmore, Peter Shorer, Mai Treial, Michel Albin, Jaana Padrik, Jean Louis Renier, Eva Dohnalova, Calin Catalin Chirita, Aleksei Aleksandrov, Mohammad Nazir, Arvo Sirendi. Parlamendisaadik

  7. Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre [Roger Salengro Hospital, CHRU, Neuroradiology Department, Lille (France); Abou Chahla, Wadih [Jeanne de Flandre Hospital, Pediatric Hematology and Oncology Department, Lille (France); Jissendi-Tchofo, Patrice [University Hospital Saint-Pierre, Radiology Department - Pediatric Neuroradiology Section, Brussels (Belgium)

    2015-08-15

    Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

  8. Electrodiagnosis in paediatric ophthalmogenetics

    NARCIS (Netherlands)

    P.A. Pkarian (Patricia)

    1994-01-01

    textabstractIn the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including albinism, Pelizaeus-Merzbacher disease and spastic paraplegia. The VEP approach is based on a fo

  9. Ostracism of an albino individual by a group of pigmented catfish.

    Directory of Open Access Journals (Sweden)

    Ondřej Slavík

    Full Text Available Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis, to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics.

  10. Ostracism of an albino individual by a group of pigmented catfish.

    Science.gov (United States)

    Slavík, Ondřej; Horký, Pavel; Maciak, Matúš

    2015-01-01

    Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis), to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics. PMID:26018869

  11. Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia

    Directory of Open Access Journals (Sweden)

    Swakshyar Saumya Pal

    2011-01-01

    Full Text Available A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT, microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.

  12. Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

    DEFF Research Database (Denmark)

    Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A;

    2015-01-01

    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular p...

  13. Women in IT

    Science.gov (United States)

    Campus Technology, 2011

    2011-01-01

    Today, female students outnumber males on campus, earn a higher number of BA degrees, and surpass men in completing advanced degrees. So there is a certain irony in the fact that executive roles on campus are still dominated by men--and IT is no exception. "Campus Technology" asked three women (Pam McQuesten, Dana Hoover, and Jill Albin-Hill)…

  14. 78 FR 75458 - Addition of Certain Persons to the Entity List; Amendment of Entity List Entries; and Removal of...

    Science.gov (United States)

    2013-12-12

    ... Malaysia).. * * * * * Babak Jafarpour, For all items Presumption of 78 FR [INSERT FR a.k.a., the subject to.... * * * * * * * * * * * * MALAYSIA * * * * * Albin Technologies For all items Presumption of 78 FR [INSERT FR Sdn Bhd., M-3-19... Lumpur, Malaysia. * * * * * * * * * * * * THAILAND Asian Aviation For all items Presumption of 78......

  15. Genetic transformation of barley: limiting factors

    Czech Academy of Sciences Publication Activity Database

    Vyroubalová, Š.; Šmehilová, M.; Galuszka, P.; Ohnoutková, Ludmila

    2011-01-01

    Roč. 55, č. 2 (2011), s. 213-224. ISSN 0006-3134 R&D Projects: GA ČR GD522/08/H003; GA MŠk 1M06030 Institutional research plan: CEZ:AV0Z50380511 Keywords : Agrobacterium * albinism * Hordeum Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.974, year: 2011

  16. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

    Science.gov (United States)

    Ammann, Sandra; Schulz, Ansgar; Krägeloh-Mann, Ingeborg; Dieckmann, Nele M G; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Bank, Julia; Strauss, Anne; von Bernuth, Horst; Zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M; Lehmberg, Kai; Hennies, Hans Christian; Ehl, Stephan

    2016-02-25

    Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilization of the adaptor protein 3 (AP3) complex. AP3 complex formation and the degranulation defect in patient T cells were restored by retroviral reconstitution. A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. HPS2 caused by mutations in AP3B1A leads to a highly overlapping phenotype without the neurologic symptoms. The AP3 complex exists in a ubiquitous and a neuronal form. AP3D1 codes for the AP3δ subunit of the complex, which is essential for both forms. In contrast, the AP3β3A subunit, affected in HPS2 patients, is substituted by AP3β3B in the neuron-specific heterotetramer. AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. PMID:26744459

  17. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  18. Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

    International Nuclear Information System (INIS)

    Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

  19. Differences in MITF gene expression and histology between albino and normal sea cucumbers ( Apostichopus japonicus Selenka)

    Science.gov (United States)

    Zhao, Heling; Yang, Hongsheng; Zhao, Huan; Liu, Shilin; Wang, Tianming

    2012-01-01

    Albino Apostichopus japonicus occur both in the wild and in captivity. The offspring of albino A. japonicus also suffer from albinism. The formation of melanin in the melanocytes is dependant on microphthalmia-associated transcription factor (MITF). To investigate the role of MITF in controlling albinism, we cloned the full-length MITF cDNA from A. japonicus and compared MITF mRNA expression in albino and normal A. japonicus. In addition, we used light and electron microscopy to compare histological samples of normal and albino A. japonicus. The body wall of albino adults was characterized by significantly lower levels of MITF expression and lower numbers of epidermal melanocytes, which also contained less melanin. In albino juvenile offspring, MITF expression levels were significantly lower 32 d after fertilization and there were fewer, and less developed, epidermal melanocytes. Thus, we conclude that albino A. japonicus have fewer melanocytes and a reduced ability to synthesize melanin, likely because of lower expression of MITF.

  20. Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function

    OpenAIRE

    Sitaram, Anand; Piccirillo, Rosanna; Palmisano, Ilaria; Harper, Dawn C.; Dell'Angelica, Esteban C; Schiaffino, M. Vittoria; Marks, Michael S.

    2009-01-01

    Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases. The function of the OCA2 protein remains unknown, and its subcellular localization is under debate. Here, we show that endogenous OCA2 in melanocytic cells rapidly exits the endoplasmic reticulum (ER) and thus does not behave as a resident ER protein. Consistently, exogenously expressed OCA2 localizes within melanocytes to mela...

  1. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature

    OpenAIRE

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-01-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%–3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contr...

  2. Insertional Mutagenesis by a Hybrid PiggyBac and Sleeping Beauty Transposon in the Rat

    OpenAIRE

    Furushima, Kenryo; Jang, Chuan-Wei; Chen, Diane W.; Xiao, Ningna; Overbeek, Paul A.; Behringer, Richard R.

    2012-01-01

    A hybrid piggyBac/Sleeping Beauty transposon-based insertional mutagenesis system that can be mobilized by simple breeding was established in the rat. These transposons were engineered to include gene trap sequences and a tyrosinase (Tyr) pigmentation reporter to rescue the albinism of the genetic background used in the mutagenesis strategy. Single-copy transposon insertions were transposed into the rat genome by co-injection of plasmids carrying the transposon and RNA encoding piggyBac trans...

  3. Behavior of an albino vampire bat, Desmodus rotundus (E. Geoffroy) (Chiroptera, Phyllostomidae), in captivity

    OpenAIRE

    Wilson Uieda

    2001-01-01

    Albinism in the common vampire bat Desmodus rotundus (E. Geoffrey, 1810) was already reported for seven individuals, six of them did in Brazil. Although this species is relatively easy to keep in captivity and many studies with normally pigmented bats were did under laboratory conditions, no reports on detailed observations of captive albino vampire bats were found in literature. This paper reports some behavioral observation of a single albino female D. rotundus kept in captivity in Brazil b...

  4. The role of losartan and enalapril in the protection against stress-induced gastric mucosal ulceration in rats

    OpenAIRE

    Ahmed, Sanaa A.; Mahmoud H. Abdel-Rahim; Hytham M. Abdel-latif

    2016-01-01

    Background: Angiotensin II (ANG II) is a stress hormone and its level dramatically increases in the stomach during stress. In addition, it generates reactive oxygen species (ROS) with cellular damage and inflammation. So the aim of this study is to evaluate the mechanism of losartan and enalapril in the prevention of stress-induced gastric ulcer through their action on mucosal prostaglandin (PGs) and antioxidant enzymes and compare between them. Methods: Thirty- six adult male wistar albin...

  5. Residential mobility among foreign-born persons living in Sweden is associated with lower mortality

    OpenAIRE

    Björn Albin; Katarina Hjelm; Jan Ekberg; et al

    2010-01-01

    Björn Albin1,2, Katarina Hjelm1,2, Jan Ekberg3, Sölve Elmståhl41School of Health and Caring Sciences, Linnaeus University, Växjö, Sweden; 2Department of Health Sciences, Division of Geriatric Medicine, Lund University, Sweden; 3Centre of Labour Market Policy Research (CAFO), School of Management and Economics, Växjö University, Sweden; 4Department of Health Sciences, Division of Geriatric Medicine, Lund University, SwedenAbstract...

  6. Low Vision Management For Infantile Nystagmus: A Case Study

    OpenAIRE

    Alexandra Troy, OD; Sara Appel, OD

    2015-01-01

    Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving). This article provides a review of...

  7. Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital

    OpenAIRE

    Tanioka, Miki; Yamamoto, Yosuke; Katoh, Mayumi; Takahashi, Kenzo; MIYACHI, YOSHIKI

    2009-01-01

    We reviewed the causes of “loss of skin color” in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous scler...

  8. The effects of inhaled formaldehyde on the activities of some metabolic enzymes in the liver of male rats: subchronic (13-weeks) effects

    OpenAIRE

    Yılmaz, H.Ramazan; ÖZEN, O. Aslan; Özyurt, Hüseyin; Songur, Ahmet; Şahin, Şemsettin; Sarsılmaz, Mustafa

    2013-01-01

    Abstract. We aimed to investigate the effects of different formaldehyde (FA) concentrations on some enzyme activities that take part in metabolic pathways in the liver. The enzymes studied were hexokinase (HK), glucose-6-phosphate dehydrogenase (G6PD), 6-phosphogluconate dehydrogenase (6PGD), lactate dehydrogenase (LDH), and malate dehydrogenase (MDH) which are included in the three main metabolic pathways; glycolysis, citric acid cycle, and pentose phosphate pathway. Thirty male Wistar albin...

  9. A Potent Activator of Melanogenesis Identified from Small Molecule Screening

    OpenAIRE

    McNaughton, Brian R.; Gareiss, Peter C.; Jacobs, Stacey E.; Fricke, Alex F.; Scott, Glynis A.; Miller, Benjamin L.

    2009-01-01

    Small molecules that increase the cellular level of melanin can be used to study melanogenesis, and have therapeutic potential for melanin-related diseases such as albinism. We describe the identification of a potent activator of melanogenesis from a targeted combinatorial library. Treating melanocytes with our most active molecule results in a 1.8-fold increase in melanin, and an increase in tyrosinase-catalyzed oxidation of L-tyrosine, a key step in melanin biosynthesis.

  10. The Effect of Celecoxib, a Cyclooxygenase-2 Inhibitor on Noise- Induced Hearing Loss

    OpenAIRE

    Akram Pourbakht

    2013-01-01

    Objective(s): Noise-induced hearing loss (NIHL) is the major cause of acquired hearing loss.  Celecoxib, a cyclooxygenase-2 (COX-2) inhibitor, is a non- steroidal anti- inflammatory drug (NSAID) with known antioxidant and antineoplastic activity. Therefore, we monitored the extent of temporary noise- induced threshold shifts (TTS) and cochlear damage caused by high level 4- kHz noise exposure to verify the differences with those pretreated with celecoxib. Materials and Methods: Ten male albin...

  11. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  12. Squamous Cell Carcinoma in South-Eastern Equatorial Rain Forest in Calabar, Nigeria

    OpenAIRE

    Asuquo, M. E.; Ikpeme, I. A.; Bassey, E E; Ebughe, G.

    2009-01-01

    Background: In North America and Europe, 80% of invasive skin cancers are basal cell carcinoma while 20% are squamous cell carcinoma (SCC). In contrast, African studies reveal a preponderance of SCC. Risk factors are grouped into solar and nonsolar. Oculocutaneous albinism (OCA) is a known risk factor for skin cancer in Africans. Their contributions vary with race and geographic region. This study sought to evaluate the pattern, risk factors, and outcome of management of this lesion in our se...

  13. In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

    OpenAIRE

    Ikawa Y.; Hess R.; Dorward H.; Cullinane A.R.; Huizing M.; Gochuico B.R.; Gahl W.A.; Candotti F.

    2014-01-01

    Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal mela...

  14. Actinic Cheilitis: A Case Report and a Review of the Literature

    OpenAIRE

    Wood, Neil Hamilton; Khammissa, Razia; Meyerov, Robin; Lemmer, Johan; Feller, Liviu

    2011-01-01

    In actinic cheilitis, the current view is that the keratinocytes have undergone transformation forming a field of epithelium with the potential for neoplastic transformation. Clinical features include diffuse and poorly demarcated atrophic, erosive or keratotic plaques that may affect some parts of, or the entire vermilion border. Fair-complexioned people, those with albinism and people with eversion of the lip are all subject to actinic cheilitis. Prophylactic measures against all forms of s...

  15. PRIMARY CNS MELANOMA IN AN ALBINO: A RARE CASE REPORT

    OpenAIRE

    Kishore; Bhardwaj; Gupta; Seema; Kudesia

    2014-01-01

    Primary intracranial melanoma is a rare and uncommon lesion. Association of primary CNS melanoma in an albino has not been reported in literature searched till now. We are presenting a rare case of primary CNS melanoma in a 52years old male with occulocutaneous albinism. The patient presented with repeated episodes of generalized headache, vomiting and ataxia for duration of 5months. MRI examination showed a tumor in the posterior fossa that was diagnosed as Ependymoma radiologically. Surgica...

  16. Common Problems in Pediatric Ophthalmology

    OpenAIRE

    Carruthers, Jean

    1988-01-01

    Because in children the neurological connections of sight are still plastic, any condition that is able to cause a reduction of visual acuity will also cause cortical suppression of the input from that eye. Early management of amblyopia is essential to its effective treatment. Prompt recognition of strabismus, nystagmus, dyslexia, retinoblastoma and albinism will also lead to an improved visual prognosis for the affected child. In the child with retinoblastoma, it will also vastly improve the...

  17. Electrodiagnosis in paediatric ophthalmogenetics

    OpenAIRE

    Pkarian, Patricia

    1994-01-01

    textabstractIn the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including albinism, Pelizaeus-Merzbacher disease and spastic paraplegia. The VEP approach is based on a four parameter subdivision of the electrophysiological response which includes, (1) amplitude (μV), (2) latency (ms), (3) waveform (component specificity), and (4) topography (potential distribution ...

  18. Pirfenidone for the treatment of Hermansky-Pudlak Syndrome pulmonary fibrosis

    OpenAIRE

    O’Brien, Kevin; Troendle, James; Gochuico, Bernadette R.; Markello, Thomas C.; Salas, Jose; Cardona, Hilda; Yao, Jianhua; Bernardini, Isa; Hess, Richard; William A Gahl

    2011-01-01

    Hermansky-Pudlak syndrome (HPS) type is a rare disorder of oculocutaneous albinism, platelet dysfunction, and in some subtypes, fatal pulmonary fibrosis. There is no effective treatment for the pulmonary fibrosis except lung transplantation, but an initial trial using pirfenidone, an anti-fibrotic agent, showed promising results. The current, randomized, placebo-controlled, prospective, double-blind trial investigated the safety and efficacy of pirfenidone for mild to moderate HPS-1 and 4 pul...

  19. A Case of Hermansky-Pudlak Syndrome with Pulmonary Sarcoidosis

    OpenAIRE

    Gruson, Lisa; Berk, Thomas

    2009-01-01

    Hermansky-Pudlak syndrome is an autosomal recessive disorder of lysosomal storage characterized by the triad of occulocutaneous albinism, bleeding diathesis, and pulmonary fibrosis. Sarcoidosis is a disease characterized by the development of noncaseating granulomas, most commonly affecting the lungs. The pathophysiology, histological findings, clinical symptoms, and treatment of the pulmonary manifestations of Hermansky-Pudlak syndrome are distinct from those of sarcoidosis. As patients with...

  20. Hermansky–Pudlak syndrome type 4 with interstitial pneumonia

    OpenAIRE

    Sakata, Yoshihiko; Kawamura, Kodai; Ichikado, Kazuya; Suga, Moritaka; Yoshioka, Masakazu

    2013-01-01

    Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in humans; IP develops primarily in types 1 and 4. Most reported cases of HPS with IP are type 1, and there are no published reports of type 4 in Japanese individuals. A 58-year-old man with congenital ocu...

  1. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child

    OpenAIRE

    Lee, Anselm Chi-wai; Poon, Kin-Hung; Lo, Wing-Hong; Wong, Lap-Gate

    2008-01-01

    A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy, hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenum revealed a lymphocytic infiltration in the submucosa, but H pylori infection was absent. The ...

  2. Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes

    OpenAIRE

    Cheng, Tsing; Orlow, Seth J.; Manga, Prashiela

    2013-01-01

    Accumulation of proteins in the endoplasmic reticulum (ER) typically induces stress and initiates the unfolded protein response (UPR) to facilitate recovery. If homeostasis is not restored, apoptosis is induced. However, adaptation to chronic UPR activation can increase resistance to subsequent acute ER stress. We therefore investigated adaptive mechanisms in Oculocutaneous albinism type 2 (Oca2)-null melanocytes where UPR signaling is arrested despite continued tyrosinase accumulation leadin...

  3. Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

    Science.gov (United States)

    Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre; Abou Chahla, Wadih; Jissendi-Tchofo, Patrice

    2015-07-01

    Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. PMID:25875633

  4. Chediak-Higashi Syndrome – A Report of Two Cases with Unusual Hyperpigmentation of the Face

    Directory of Open Access Journals (Sweden)

    Mukta PUJANI

    2011-09-01

    Full Text Available Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.

  5. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

    Directory of Open Access Journals (Sweden)

    Hamel Christian

    2003-01-01

    Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.

  6. Skin cancers in albinos in a teaching Hospital in eastern Nigeria - presentation and challenges of care

    Directory of Open Access Journals (Sweden)

    Opara Kingsley O

    2010-08-01

    Full Text Available Abstract Background Albinism is a genetic disorder characterized by lack of skin pigmentation. It has a worldwide distribution but is commoner in areas close to the equator like Nigeria. Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. Challenges faced in the care of these patients need to be highlighted in order to develop a holistic management approach with a significant public health impact. The aim of the study was to determine the pattern of skin cancers seen in Albinos, and to highlight problems encountered in their management. Method Case records of albinos managed in Imo state University teaching Hospital from June 2007 to May 2009 were reviewed. The data obtained was analyzed using descriptive statistics. Results and discussion In the period under review, albinos accounted for 67% of patients managed for primary skin cancers. There were twenty patients with thirty eight (38 lesions. Sixty one percent of the patients were below 40 years. Average duration of symptoms at presentation was 26 months. The commonest reason for late presentation was the lack of funds. Squamous cell carcinoma was the commonest histologic variant. Most patients were unable to complete treatment due to lack of funds. Conclusion Albinism appears to be the most important risk factor in the development of skin cancers in our environment. Late presentation and poor rate of completion of treatment due to poverty are major challenges.

  7. Hermansky-Pudlak syndrome type 4 with interstitial pneumonia.

    Science.gov (United States)

    Sakata, Yoshihiko; Kawamura, Kodai; Ichikado, Kazuya; Suga, Moritaka; Yoshioka, Masakazu

    2013-01-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in humans; IP develops primarily in types 1 and 4. Most reported cases of HPS with IP are type 1, and there are no published reports of type 4 in Japanese individuals. A 58-year-old man with congenital oculocutaneous albinism and progressive dyspnea for 1 month was admitted to our hospital. We administered high-dose corticosteroids on the basis of a diagnosis of acute exacerbation of interstitial pneumonia. Respiratory symptoms and the findings of high-resolution computed tomography (CT) showed improvement. He was diagnosed with HPS type 4 with interstitial pneumonia on the basis of gene analysis. He has been receiving pirfenidone for 1 year and his condition is stable. This is the first report on the use of pirfenidone for HPS with IP caused by a novel mutation in the HPS4 gene. We conclude that HPS should be suspected in patients with albinism and interstitial pneumonia. High-dose corticosteroid treatment may be useful in cases of acute exacerbation of interstitial pneumonia due to HPS-4, and pirfenidone may be useful and well tolerated in patients with HPS-4. PMID:26029628

  8. A Study On The Frequency Of Different Types Of Optical Low Vision Aids Prescribed For Low Vision Patients Examined In The Clinic Of Optometry, Faculty Of Rehabilitation Sciences Shahid Beheshti University Of Medical Sciences, Tehran, 1387

    Directory of Open Access Journals (Sweden)

    Mohammad Ghassemi Broumand

    2012-04-01

    Full Text Available Background and Aim: Different diseases can be the cause of low vision. In the case of low vision, visual acuity with conventional optical devices such as glasses and contact lenses is between” 20/70 to 20/200”. To improve the visual performance in these patients, low vision aids are prescribed.The types of prescribed low vision aids vary in different diseases. The purpose of this study is to determine the type and frequency of optical aids prescribed for low vision patients examined in optometry clinic of Rehabilitation faculty of shahid Beheshti University in 1387. Materials and Methods: In this retrospective cross-sectional study, 204 low vision patients went under investigation. In the present study variables including type and rate of refractive error, visual acuity with the best correction, type of diseases and type of prescribed optical low vision aids were investigated.Results: The frequency of prescribed distance glasses in diabetic retinopathy was 97%, age related macular degeneration 86.2%, Stargarts 92%, retinitis pigmentosa 86.4% and albinism 88.2%, Also the frequency of prescribed microscope in diabetic retinopathy was 81.82% , age related macular degeneration 48.27%, Stargarts 40% , retinitis pigmentosa 35.3% , albinism 35.3% and the frequency of prescribed magnifier in diabetic retinopathy was18.18%, age related macular degeneration 24.12% , Stargarts 52%, retinitis pigmentosa18.18% and albinism 29.4%.Conclusion: In many low vision conditions, it is more suitable to prescribe distance glasses rather than telescope. In this study the distance glass with the frequency of 84.8% is seen more acceptable in comparison with the telescope with the frequency of 41.7%. Among near optical low vision aids, microscope with the frequency of 50.5% is more accepted by the patients compared to magnifier with the frequency of 26% and CCTV with the frequency of 0.50%.

  9. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

    Science.gov (United States)

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-10-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation. PMID:27366529

  10. Homozygosity for Waardenburg syndrome.

    OpenAIRE

    Zlotogora, J; Lerer, I; Bar-David, S; Ergaz, Z; Abeliovich, D

    1995-01-01

    In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both affected with a mild form of WS1. Molecular analysis of PAX3, the gene that was determined by linkage to cause the disorder in the family, demonstrated a novel missense mutation (S84F) in exon 2 o...

  11. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva; Zheng, Chengyun; Wood, Stephanie M; Ramme, Kim; Beutel, Karin; Hasle, Henrik; Heilmann, Carsten Johan; Hultenby, Kjell; Ljunggren, Hans-Gustaf; Fadeel, Bengt; Nordenskjöld, Magnus; Henter, Jan-Inge

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  12. The Beginnings of Photography in Central Europe. Friedrich Franz and the First Daguerreotypes in Brno

    Czech Academy of Sciences Publication Activity Database

    Trnková, Petra

    2015-01-01

    Roč. 39, č. 2 (2015), s. 121-141. ISSN 0308-7298 R&D Projects: GA ČR(CZ) GPP409/11/P834 Institutional support: RVO:68378033 Keywords : photography * 19th century * daguerreotype * portraiture * Friedrich Franz * Franz Xaver Braumüller * Anton Gindl * Albin Heinrich * Cyril Napp * Josef Carl Lauer * Carl Schuh * Josef Wawra * And reas Ettingshausen * Voigtländer metal camera * Ackerbaugesellschaft * Brno * Moravia * early photography in Central Europe Subject RIV: AL - Art, Architecture, Cultural Heritage

  13. Constitution d'une légende hagiographique : le " martyre " d'Irénée de Lyon

    OpenAIRE

    Decourt, Jean-Claude

    2009-01-01

    La présente contribution reprend l'ensemble du corpus des textes grecs et latins concernant la tradition du martyre d'Irénée de Lyon et tente de montrer que cette dernière est une construction tardive, à la fois littéraire et hagiographique reposant sur deux autres événements historiques, le martyre des Quarante-Huit en 177 et la bataille de Lyon entre Sévère et Albin en 197, confondus et remaniés. This paper gathers all the Greek and Latin testimonia which deal with the so-called martyrdo...

  14. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

    Science.gov (United States)

    Maaloul, I; Talmoudi, J; Chabchoub, I; Ayadi, L; Kamoun, T H; Boudawara, T; Kallel, C H; Hachicha, M

    2016-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow. PMID:26254864

  15. Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases.

    OpenAIRE

    Mabula Joseph B; Chalya Phillipo L; Mchembe Mabula D; Jaka Hyasinta; Giiti Geofrey; Rambau Peter; Masalu Nestory; Kamugisha Erasmus; Robert Ssentongo; Gilyoma Japhet M

    2012-01-01

    Abstract Background Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed. The aim of this study was to outline the pattern and treatment outcome of skin cancers among albinos treated at our centre and to highlight challenges associated with the care of these patients and proffer solutions for improved outcome. Methods This was a ret...

  16. Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity

    OpenAIRE

    Bin, Bum-Ho; Bhin, Jinhyuk; Yang, Seung Ha; Shin, Misun; Nam, Yeon-Ju; Choi, Dong-Hwa; Shin, Dong Wook; Lee, Ai-Young; Hwang, Daehee; Cho, Eun-Gyung; Lee, Tae Ryong

    2015-01-01

    The SLC45A2 gene encodes a Membrane-Associated Transporter Protein (MATP). Mutations of this gene cause oculocutaneous albinism type 4 (OCA4). However, the molecular mechanism of its action in melanogenesis has not been elucidated. Here, we discuss the role of MATP in melanin production. The SLC45A2 gene is highly enriched in human melanocytes and melanoma cell lines, and its protein, MATP, is located in melanosomes. The knockdown of MATP using siRNAs reduced melanin content and tyrosinase ac...

  17. In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

    Science.gov (United States)

    Ikawa, Yasuhiro; Hess, Richard; Dorward, Heidi; Cullinane, Andrew R; Huizing, Marjan; Gochuico, Bernadette R; Gahl, William A; Candotti, Fabio

    2015-01-01

    Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal melanocytes, which opens the way to development of gene therapy for HPS. PMID:25468649

  18. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

    Directory of Open Access Journals (Sweden)

    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  19. Measurement of genome changes of greenable albino mutation line c.v. W25

    International Nuclear Information System (INIS)

    W25 was a greenable albino mutation line, which was derived from a temperature-sensitive genic male sterile rice 2177s, with 300 Gy gamma rays irradiation. During the whole growth duration, the leaves of W25 showed the following characters: white, greenism, albinism and greenism again. 70 primers were used for the detection of polymorphism, one of them gave polymorphic products. RAPD analysis of W25 and 2177s with random primer H05 indicated that there were two DNA bands differences

  20. Light and scanning electron microscopic examination of hair in Garlic's syndrome

    International Nuclear Information System (INIS)

    Grisceli syndrome is a rare disease is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency and an acute phase of uncontrolled T-lymphocyte macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only approximately, 60 cases have been reported, most from Turkish and Mediterranean population. In microscopic examination, silvery grey hair with large clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome where the hair showed normal cuticular pattern but nodular structures were present as an abnormal finding. (author)

  1. Proteomic analysis of young leaves at three developmental stages in an albino tea cultivar

    Directory of Open Access Journals (Sweden)

    Li Juan

    2011-08-01

    Full Text Available Abstract Background White leaf No.1 is a typical albino tea cultivar grown in China and it has received increased attention in recent years due to the fact that white leaves containing a high level of amino acids, which are very important components affecting the quality of tea drink. According to the color of its leaves, the development of this tea cultivar is divided into three stages: the pre-albinistic stage, the albinistic stage and the regreening stage. To understand the intricate mechanism of periodic albinism, a comparative proteomic approach based on two-dimensional electrophoresis (2-DE and mass spectrometry was adopted first time to identify proteins that changed in abundance during the three developmental periods. Results The 2-DE results showed that the expression level of 61 protein spots varied markedly during the three developmental stages. To analyze the functions of the significantly differentially expressed protein spots, 30 spots were excised from gels and analyzed by matrix-assisted laser desorption ionization-time of flight-tandem mass spectrometry. Of these, 26 spots were successfully identified. All identified protein spots were involved in metabolism of carbon, nitrogen and sulfur, photosynthesis, protein processing, stress defense and RNA processing, indicating these physiological processes may play crucial roles in the periodic albinism. Quantitative real-time RT-PCR analysis was used to assess the transcriptional level of differentially expressed proteins. In addition, the ultrastructural studies revealed that the etioplast-chloroplast transition in the leaf cell of White leaf No. 1 was inhibited and the grana in the chloroplast was destroyed at the albinistic stage. Conclusions In this work, the proteomic analysis revealed that some proteins may have important roles in the molecular events involved in periodic albinism of White leaf No. 1 and identificated many attractive candidates for further investigation. In

  2. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

    Science.gov (United States)

    Rajyalakshmi, R; Chakrapani, R N B

    2016-01-01

    Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis. PMID:26960655

  3. Dermatological disorders in Tuvalu between 2009 and 2012.

    Science.gov (United States)

    Lan, Li-Jung; Lien, Ying-Shuang; Wang, Shao-Chuan; Ituaso-Conway, Nese; Tsai, Ming-Che; Tseng, Pao-Ying; Yeh, Yu-Lin; Chen, Chun-Tzu; Lue, Ko-Huang; Chung, Jing-Gung; Hsiao, Yu-Ping

    2015-09-01

    There is a distinct lack of knowledge on the prevalence of skin disorders in Tuvalu. The aim of the current study was to assess the prevalence of cutaneous diseases and to evaluate access dermatological care in Tuvalu. Cutaneous disorders in the people of Tuvalu between 2009 and 2012 were examined. The most common skin conditions were eczema/dermatitis, superficial fungal infections, impetigo, carbuncles, furuncles, folliculitis, acne, scabies, warts and keloids. Infrequent skin conditions included infectious granulomatous disease, albinism, actinic keratosis, skin cancer, cutaneous lupus erythematosus and mammary Paget's disease, which required medical attention. This is the first epidemiological report on skin disorders in the southwest Pacific Island, Tuvalu. PMID:25998560

  4. A case of leucism in House Sparrow, Passer domesticus (Linnaeus, 1758 in an island of São Francisco river, northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Leonardo Barros Ribeiro

    2012-03-01

    Full Text Available Leucism in birds is a genetic disorder characterized by the total absence of melanin in some or all feathers, but unlike albinism, the other body parts, such as eyes, beak, and tarsi remain with the typical color of the species. The House Sparrow Passer domesticus is a bird native from Europe, Asia, and North Africa. It has been introduced in North America, South America, South Africa, Australia, and New Zealand. Currently, it is the bird species with the largest geographical range. Here, we report the record of a leucistic specimen of Passer domesticus from Rodeadouro island, São Francisco river, northeastern Brazil.

  5. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinsm (OCA)

    Energy Technology Data Exchange (ETDEWEB)

    Tripathi, R.K.; Droetto, S.; Strunk, K.M.; Holmes, S.A.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States)); Bundey, S.; Musarella, M.A.

    1993-12-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. The authors present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. The authors describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient. 16 refs., 6 figs.

  6. Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.

    Science.gov (United States)

    Huenerberg, Katherine; Hudspeth, Michelle; Bergmann, Shayla; Pai, Shashidhar; Singh, Balvir; Duong, Angie

    2016-05-01

    Vici syndrome is a rare congenital disorder first described in 1988. To date, 31 cases have been reported in the literature. The characteristic features of this syndrome include: agenesis of the corpus callosum, albinism, cardiomyopathy, variable immunodeficiency, cataracts, and myopathy. We report two Hispanic sisters with genetically confirmed Vici syndrome who both developed Idiopathic Thrombocytopenic Purpura. To our knowledge, this is an immunologic process that has been previously undescribed within the phenotype of Vici syndrome and should be added to the spectrum of variable immune dysregulation that can be found in these patients. © 2016 Wiley Periodicals, Inc. PMID:26854214

  7. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  8. Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.

    Science.gov (United States)

    Bin Saeedan, Mnahi; Faheem Mohammed, Shamayel; Mohammed, Tan-Lucien H

    2015-01-01

    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. Pulmonary involvement usually begins during the third or fourth decades of life, with fibrosis being the most common cause of death. We present imaging and histopathologic findings of a 16-year-old Saudi adolescent girl with HPS-related pulmonary fibrosis, emphasizing on the role of imaging in assessment of disease severity and prognosis. PMID:25728501

  9. Activation of cell division and nucleic acid synthesis in the corneal epithelium of albino rats by repeated stress

    International Nuclear Information System (INIS)

    Adaption to unfavorable factors is accompanied by activation of nucleic acid and protein synthesis in systems responsible for adaption. The authors investigate the possibility of similar changes taking place in structures not actively participating in adaptation. The corneas of the dead male albin rats were preincubated with tritium-uridine for 1.5 hours. The mitotic index, the index of tritium-thymidine-labeled nuclei and the intensity of thymidine labeling were determined. The results indicate that after a single exposure to hypoxia, hyperthermia, and immobilization, mitotic index in the corneal epithelium decreased and DNA synthesis under these circumstances remained stable

  10. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian

    2007-02-01

    Full Text Available Griscelli syndrome (GS is a rare disease first described in 1978. It isinherited in autosomal recessive pattern. This disease is characterizedby partial albinism, pigmentation dilution, cellular immunodeficiency,neurological involvement & uncontrolled phases of macrophage &lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia,hemophagocytosis and progressive neurologic deterioration. Griscellisyndrome can be suggested according to her symptoms. Thechemotherapy was not effective for her and she died due to multiorgan failure.

  11. Are mice pigmentary genes throwing light on humans?

    Directory of Open Access Journals (Sweden)

    Bose S

    1993-01-01

    Full Text Available In this article the rapid advances made in the molecular genetics of inherited disorders of hypo and hyperpigmentation during the past three years are reviewed. The main focus is on studies in mice as compared to homologues in humans. The main hypomelanotic diseases included are, piebaldism (white spotting due to mutations of c-KIT, PDGF and MGF genes; vitiligo (microphathalmia mice mutations of c-Kit and c-fms genes; Waardenburg syndrome (splotch locus mutations of mice PAX-3 or human Hup-2 genes; albinism (mutations of tyrosinase genes, Menkes disease (Mottled mouse, premature graying (mutations in light/brown locus/gp75/ TRP-1; Griscelli disease (mutations in TRP-1 and steel; Prader-willi and Angelman syndromes, tyrosinase-positive oculocutaneous albinism and hypomelanosis of lto (mutations of pink-eyed dilution gene/mapping to human chromosomes 15 q 11.2 - q12; and human platelet storage pool deficiency diseases due to defects in pallidin, an erythrocyte membrane protein (pallid mouse / mapping to 4.2 pallidin gene. The genetic characterization of hypermelanosis includes, neurofibromatosis 1 (Café-au-lait spots and McCune-Albright Syndrome. Rapid evolving knowledge about pigmentary genes will increase further the knowledge about these hypo and hyperpigmentary disorders.

  12. Characterization and comparison of proteomes of albino sea cucumber Apostichopus japonicus (Selenka) by iTRAQ analysis.

    Science.gov (United States)

    Xia, Chang-ge; Zhang, Dijun; Ma, Chengnv; Zhou, Jun; He, Shan; Su, Xiu-rong

    2016-04-01

    Sea cucumber is a commercially important marine organism in China. Of the different colored varieties sold in China, albino sea cucumber has the greatest appeal among consumers. Identification of factors contributing to albinism in sea cucumber is therefore likely to provide a scientific basis for improving the cultivability of these strains. In this study, two-dimensional liquid chromatography-tandem mass spectrometry coupled with isobaric tags for relative and absolute quantification labeling was used for the first time to quantitatively define the proteome of sea cucumbers and reveal proteomic characteristics unique to albino sea cucumbers. A total of 549 proteins were identified and quantified in albino sea cucumber and the functional annotations of 485 proteins have been exhibited based on COG database. Compared with green sea cucumber, 12 proteins were identified as differentially expressed in the intestine and 16 proteins in the body wall of albino sea cucumber. Among them, 5 proteins were up-regulated in the intestine and 8 proteins were down-regulated in body wall. Gene ontology annotations of these differentially expressed proteins consisted mostly of 'biological process'. The large number of differentially expressed proteins identified here should be highly useful in further elucidating the mechanisms underlying albinism in sea cucumber. PMID:26707782

  13. Differences in MITF gene expression and histology between albino and normal sea cucumbers (Apostichopus japonicus Selenka)

    Institute of Scientific and Technical Information of China (English)

    ZHAO Heling; YANG Hongsheng; ZHAO Huan; LIU Shilin; WANG Tianming

    2012-01-01

    Albino Apostichopus japonicus occur both in the wild and in captivity.The offspring of albino A.japonicus also suffer from albinism.The formation of melanin in the melanocytes is dependant on microphthalmia-associated transcription factor (MITF).To investigate the role of MITF in controlling albinism,we cloned the full-length MITF cDNA from A.japonicus and compared MITF mRNA expression in albino and normal A.japonicus.In addition,we used light and electron microscopy to compare histological samples of normal and albino A.japonicus.The body wall of albino adults was characterized by significantly lower levels of MITF expression and lower numbers of epidermal melanocytes,which also contained less melanin.In albino juvenile offspring,MITF expression levels were significantly lower 32 d after fertilization and there were fewer,and less developed,epidermal melanocytes.Thus,we conclude that albino A.japonicus have fewer melanocytes and a reduced ability to synthesize melanin,likely because of lower expression of MITF.

  14. Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies

    Science.gov (United States)

    Lai, Xuelei; Soler-Lopez, Montserrat; Wichers, Harry J.

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes. Despite extensive structural and characterization studies of its homologues in lower eukaryotic organisms, the catalytic mechanism of human TYR and the molecular basis of OCA1 are largely unknown. In this work, we have carried out a large-scale recombinant expression of TYR that has enabled us to obtain high yields of pure and active protein, required for crystallization trials and screening of skin whitening agents, which is highly demanded in the cosmetic industry. Addition of an N-terminal honeybee melittin signal peptide for secretion of the produced protein into the (protein-free) medium, as well as a cleavable His-tag at the C-terminus, was crucial for increasing the yield of pure protein. We have successfully crystallized two TYR variants, in both glycosylated and deglycosylated forms, showing preliminary X-ray diffraction patterns at 3.5 Å resolution. Hence, we have established an expression and purification protocol suitable for the crystal structure determination of human TYR, which will give unique atomic insight into the nature and conformation of the residues that shape the substrate binding pocket that will ultimately lead to efficient compound design. PMID:27551823

  15. Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

    Science.gov (United States)

    Lai, Xuelei; Soler-Lopez, Montserrat; Wichers, Harry J; Dijkstra, Bauke W

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes. Despite extensive structural and characterization studies of its homologues in lower eukaryotic organisms, the catalytic mechanism of human TYR and the molecular basis of OCA1 are largely unknown. In this work, we have carried out a large-scale recombinant expression of TYR that has enabled us to obtain high yields of pure and active protein, required for crystallization trials and screening of skin whitening agents, which is highly demanded in the cosmetic industry. Addition of an N-terminal honeybee melittin signal peptide for secretion of the produced protein into the (protein-free) medium, as well as a cleavable His-tag at the C-terminus, was crucial for increasing the yield of pure protein. We have successfully crystallized two TYR variants, in both glycosylated and deglycosylated forms, showing preliminary X-ray diffraction patterns at 3.5 Å resolution. Hence, we have established an expression and purification protocol suitable for the crystal structure determination of human TYR, which will give unique atomic insight into the nature and conformation of the residues that shape the substrate binding pocket that will ultimately lead to efficient compound design. PMID:27551823

  16. Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.

    Science.gov (United States)

    Popescu, Costin I; Paduraru, Crina; Dwek, Raymond A; Petrescu, Stefana M

    2005-04-01

    Tyrosinase is a type I membrane protein regulating the pigmentation process in humans. Mutations of the human tyrosinase gene cause the tyrosinase negative type I oculocutaneous albinism (OCAI). Some OCAI mutations were shown to delete the transmembrane domain or to affect its hydrophobic properties, resulting in soluble tyrosinase mutants that are retained in the endoplasmic reticulum (ER). To understand the specific mechanisms involved in the ER retention of soluble tyrosinase, we have constructed a tyrosinase mutant truncated at its C-terminal end and investigated its maturation process. The mutant is retained in the ER, and it is degraded through the proteasomal pathway. We determined that the mannose trimming is required for an efficient degradation process. Moreover, this soluble ER-associated degradation substrate is stopped at the ER quality control checkpoint with no requirements for an ER-Golgi recycling pathway. Co-immmunoprecipitation experiments showed that soluble tyrosinase interacts with calreticulin and BiP/GRP78 (and not calnexin) during its ER transit. Expression of soluble tyrosinase in calreticulin-deficient cells resulted in the export of soluble tyrosinase of the ER, indicating the calreticulin role in ER retention. Taken together, these data show that OCAI soluble tyrosinase is an ER-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78. The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism. PMID:15677452

  17. Correction of defective early tyrosinase processing by bafilomycin A1 and monensin in pink-eyed dilution melanocytes.

    Science.gov (United States)

    Chen, Kun; Minwalla, Ljiljana; Ni, Li; Orlow, Seth J

    2004-02-01

    Mutations in the human P gene result in oculocutaneous albinism type 2, the most common form of albinism. Mouse melan-p1 melanocytes, cultured from mice null at the homologous pink-eyed dilution (p) locus, exhibit defective melanin production. A variety of compounds including tyrosine, NH4Cl, bafilomycin A1, concanamycin, monensin, and nigericin are capable of restoring melanin synthesis in these cells. In the current study, we investigated the subcellular effects of bafilomycin A1 and monensin treatment of melan-p1 cells. Both agents play two roles in the processing of tyrosinase (Tyr) in melan-p1 cells. First, combined glycosidase digestion and immunoblotting analysis showed that these agents reduce levels of Tyr retained in the endoplasmic reticulum (ER) and facilitate the release of Tyr from the ER to the Golgi. Secondly, treatment with these compounds resulted in the stabilization of Tyr. Surprisingly, induction of melanin synthesis corresponds more closely with diminution of ER-retained Tyr, rather than the absolute amount of Tyr. Our results suggest that bafilomycin A1 and monensin induce melanin synthesis in melan-p1 cells mainly by facilitating Tyr processing from the ER to the Golgi by increasing the pH in either the ER or the ER-Golgi intermediate compartment. PMID:14717843

  18. Efficient dual sgRNA-directed large gene deletion in rabbit with CRISPR/Cas9 system.

    Science.gov (United States)

    Song, Yuning; Yuan, Lin; Wang, Yong; Chen, Mao; Deng, Jichao; Lv, Qingyan; Sui, Tingting; Li, Zhanjun; Lai, Liangxue

    2016-08-01

    The CRISPR RNA-guided Cas9 nuclease gene-targeting system has been extensively used to edit the genome of several organisms. However, most mutations reported to date have been are indels, resulting in multiple mutations and numerous alleles in targeted genes. In the present study, a large deletion of 105 kb in the TYR (tyrosinase) gene was generated in rabbit via a dual sgRNA-directed CRISPR/Cas9 system. The typical symptoms of albinism accompanied significantly decreased expression of TYR in the TYR knockout rabbits. Furthermore, the same genotype and albinism phenotype were found in the F1 generation, suggesting that large-fragment deletions can be efficiently transmitted to the germline and stably inherited in offspring. Taken together, our data demonstrate that mono and biallelic large deletions can be achieved using the dual sgRNA-directed CRISPR/Cas9 system. This system produces no mosaic mutations or off-target effects, making it an efficient tool for large-fragment deletions in rabbit and other organisms. PMID:26817461

  19. A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes with confirmation of species identity using cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Denise M Nogueira

    2011-02-01

    Full Text Available Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological features, this owl is a specimen of burrowing owl, Athene cunicularia (Molina, 1782. To confirm the species identity, we used cytogenetic analyses for karyotypic determination, comparing it to the previously described one in the literature. We also studied a captive female of A. cunicularia to complement the species karyotype, which was described in the literature based only on a single male. The karyotype of the leucistic owl individual was compatible with the previously published one for A. cunicularia, confirming the bird was a male specimen. Cytogenetic analysis of the captive female showed that the W sex chromosome is metacentric and comparable to the seventh pair in size. This is the first description of a case of leucism in A. cunicularia for South America. Long-term studies are needed in the Neotropical region to evaluate survival and breeding success in leucistic birds.

  20. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

    Science.gov (United States)

    Cağdaş, Deniz; Ozgür, Tuba Turul; Asal, Gülten Türkkanı; Tezcan, Ilhan; Metin, Ayşe; Lambert, Nathalie; de Saint Basile, Geneiveve; Sanal, Ozden

    2012-10-01

    Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. While hematopoietic stem cell transplantation is life saving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, only 2 patients with type 3 and about 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. However, none of these patients' clinical progresses were reported. We described here our two new type 1 and two type 3 patients along with the progresses of our previously diagnosed patients with GS types 1 and 3. Our previous patient with GS type I is alive at age 21 without any other problems except severe mental and motor retardation, patients with type 3 are healthy at ages 21 and 24 years having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS. PMID:22711375

  1. How does agonistic behaviour differ in albino and pigmented fish?

    Science.gov (United States)

    Slavík, Ondřej; Horký, Pavel; Wackermannová, Marie

    2016-01-01

    In addition to hypopigmentation of the skin and red iris colouration, albino animals also display distinct physiological and behavioural alterations. However, information on the social interactions of albino animals is rare and has mostly been limited to specially bred strains of albino rodents and animals from unique environments in caves. Differentiating between the effects of albinism and domestication on behaviour in rodents can be difficult, and social behaviour in cave fish changes according to species-specific adaptations to conditions of permanent darkness. The agonistic behaviours of albino offspring of pigmented parents have yet to be described. In this study, we observed agonistic behaviour in albino and pigmented juvenile Silurus glanis catfish. We found that the total number of aggressive interactions was lower in albinos than in pigmented catfish. The distance between conspecifics was also analysed, and albinos showed a tendency towards greater separation from their same-coloured conspecifics compared with pigmented catfish. These results demonstrate that albinism can be associated with lower aggressiveness and with reduced shoaling behaviour preference, as demonstrated by a tendency towards greater separation of albinos from conspecifics. PMID:27114883

  2. Fitness loss and germline mutations in barn swallows breeding in Chernobyl

    International Nuclear Information System (INIS)

    The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author)

  3. Genetics and evolution of plumage color in Crested Ibis: Analysis of the melanocortin-1 receptor (MC1R).

    Science.gov (United States)

    Yang, J; Liu, X; Zhang, J; Qing, B; Lu, B

    2015-01-01

    The melanocortin-1-recepter gene (MC1R), an important regulator in melanin synthesis, may cause different plumage color patterns in birds: gain-of-function mutations lead to the synthesis of eumelanin, whereas loss-of-function mutations help to generate pheomelanin synthesis. We had chosen MC1R as a candidate gene for the depigmentation of crested ibis, cloned and sequenced the crested ibis MC1R gene the first time. The crested ibis MC1R sequence, highly conserved with other birds during evolution, had seven transmembrane domains which played an indispensable function through evolution. We did not found any substitution on this sequence among all the sample individuals. The phylogenetic tree showed that crested ibis separated early in the evolution of birds. TYR, TYRP1, TYRP2 and MC1R were expressed in blood and the expression of the four genes showed no significant difference (p>0.05) between normal and albinism individuals, and this result demonstrated that melanic pigments are not involved in the production of red pigmentation in birds. Further study of the crested ibis albinism should focus on analyzing carotenoid-based genes. PMID:26314199

  4. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

    Energy Technology Data Exchange (ETDEWEB)

    Halaban, R.; Moellmann, G. (Yale Univ. School of Medicine, New Haven, CT (USA))

    1990-06-01

    Melanogenesis is regulated in large part by tyrosinase, and defective tyrosinase leads to albinism. The mechanisms for other pigmentation determinants (e.g., those operative in tyrosinase-positive albinism and in murine coat-color mutants) are not yet known. One murine pigmentation gene, the brown (b) locus, when mutated leads to a brown (b/b) or hypopigmentated (B{sup lt}/B{sup lt}) coat versus the wild-type black (B/B). The authors show that the b locus codes for a glycoprotein with the activity of a catalase (catalase B). Only the c locus protein is a tyrosinase. Because peroxides may be by-products of melanogenic activity and hydrogen peroxide in particular is known to destroy melanin precursors and melanin, they conclude that pigmentation is controlled not only by tyrosinase but also by a hydroperoxidase. The studies indicate that catalase B is identical with gp75, a known human melanosomal glycoprotein; that the b mutation is in a heme-associated domain; and that the B{sup lt} mutation renders the protein susceptible to rapid proteolytic degradation.

  5. Report of Six Cases of Chediak-Higashi Syndrome with Regard to Clinical and Laboratory Findings

    Directory of Open Access Journals (Sweden)

    Abolhasan Farhoudi

    2003-12-01

    Full Text Available Chediak - Higashi Syndrome (CHS is a rare, primary Immunodeficiency disorder with an autosomal recessive (AR inheritance and characterized by re¬current infection, partial occulocutaneous albinism and an accelerated phase.In this report we describe clinical and laboratory findings from 6 CHS pa¬tients.Clinical and laboratory information of six patients who were referred to our center during the last 20 years (from 1983 - 2003 were reviewed.Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract (U&LRT infections, stomatitis, thrush, and skin ab¬scesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, CD8and CD 19 lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years.We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation (BMT in patients.

  6. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

    International Nuclear Information System (INIS)

    Melanogenesis is regulated in large part by tyrosinase, and defective tyrosinase leads to albinism. The mechanisms for other pigmentation determinants (e.g., those operative in tyrosinase-positive albinism and in murine coat-color mutants) are not yet known. One murine pigmentation gene, the brown (b) locus, when mutated leads to a brown (b/b) or hypopigmentated (Blt/Blt) coat versus the wild-type black (B/B). The authors show that the b locus codes for a glycoprotein with the activity of a catalase (catalase B). Only the c locus protein is a tyrosinase. Because peroxides may be by-products of melanogenic activity and hydrogen peroxide in particular is known to destroy melanin precursors and melanin, they conclude that pigmentation is controlled not only by tyrosinase but also by a hydroperoxidase. The studies indicate that catalase B is identical with gp75, a known human melanosomal glycoprotein; that the b mutation is in a heme-associated domain; and that the Blt mutation renders the protein susceptible to rapid proteolytic degradation

  7. Fitness loss and germline mutations in barn swallows breeding in Chernobyl

    Energy Technology Data Exchange (ETDEWEB)

    Ellegren, Hans; Lindgren, Gabriella; Primmer, C.R. [Swedish Univ. of Agricultural Sciences, Animal Breeding and Genetics Dept., Uppsala (Sweden); Moeller, A.P. [Universite Pierre et Marie Curie. Lab. d`Ecologie, Paris, 75 (France)

    1997-10-09

    The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author).

  8. BREESE-II: auxiliary routines for implementing the albedo option in the MORSE Monte Carlo code

    International Nuclear Information System (INIS)

    The routines in the BREESE package implement the albedo option in the MORSE Monte Carlo Code by providing (1) replacements for the default routines ALBIN and ALBDO in the MORSE Code, (2) an estimating routine ALBDOE compatible with the SAMBO package in MORSE, and (3) a separate program that writes a tape of albedo data in the proper format for ALBIN. These extensions of the package initially reported in 1974 were performed jointly by ORNL, Bechtel Power Corporation, and Science Applications, Inc. The first version of BREESE had a fixed number of outgoing polar angles and the number of outgoing azimuthal angles was a function of the value of the outgoing polar angle only. An examination of differential albedo data led to this modified version which allows the number of outgoing polar angles to be dependent upon the value of the incoming polar angle and the number of outgoing azimuthal angles to be a function of the value of both incoming and outgoing polar angles

  9. Pigmentation, pleiotropy, and genetic pathways in humans and mice

    Energy Technology Data Exchange (ETDEWEB)

    Barsh, G.S. [Stanford Univ., CA (United States)

    1995-10-01

    Some of the most striking polymorphisms in human populations affect the color of our eyes, hair, or skin. Despite some simple lessons from high school biology (blue eyes are recessive; brown are dominant), the genetic basis of such phenotypic variability has, for the most part, eluded Mendelian description. A logical place to search for the keys to understanding common variation in human pigmentation are genes in which defects cause uncommon conditions such as albinism or piebaldism. The area under this lamppost has recently gotten larger, with two articles, one in this issue of the Journal, that describe the map position for Hermansky-Pudlak syndrome (HPS) and with the recent cloning of a gene that causes X-linked ocular albinism (OA1). In addition, a series of three recent articles in Cell demonstrate (1) that defects in the gene encoding the endothelin B (ET{sub B}) receptor cause hypopigmentation and Hirschsprung disease in a Mennonite population and the mouse mutation piebald(s) and (2) that a defect in the edn3 gene, which encodes one of the ligands for the ET{sub B} receptor, causes the lethal spotting (ls) mouse mutation. 47 refs., 1 fig.

  10. Demographic shifts related to mycoheterotrophy and their fitness impacts in two Cephalanthera species.

    Science.gov (United States)

    Shefferson, Richard P; Roy, Mélanie; Püttsepp, Ülle; Selosse, Marc-André

    2016-06-01

    Evolutionary losses of photosynthesis in terrestrial plants all originate in photosynthetic ancestors. The adaptive context under which this transition happens has remained elusive because of the rarity of plants in which both photosynthetic and non-photosynthetic forms exist as a polymorphism. Here, we report on demographic patterns in photosynthetic ("green") and nonphotosynthetic ("albino") individuals within populations of two such species, Cephalanthera damasonium and C. longifolia, which also acquire nutrition from their mycorrhizal hosts (partial mycoheterotrophy). We hypothesized that demographic shifts in albinos relative to greens would include compensatory patterns with respect to fitness, such that maladaptive changes to survival or reproduction would be adaptively countered by changes to other parameters, such as growth probabilities. We tracked individuals in two populations of C. damasonium for 3 yr, and in one population of C. longifolia for 14 yr. We then analyzed vital rates for both phenotypes using general linear mixed models (GLMMs) and multi-state capture mark-recapture models (CMR), and used these models to develop size-classified, function-based population projection matrices. We estimated fitness as the deterministic population growth rate (λ) for each phenotype, and explored the impact of shifts in demographic patterns to albinism via life table response experiments (LTREs). Mortality differed between greens and albinos, but not similarly across species. Albinos generally sprouted less than greens, and flowered more when small but less at other times. Albinos typically had a higher probability of fruiting, although their lower flower numbers yielded lower numbers of fruits overall. Fitness did not differ significantly among phenotypes. Thus, we did not find significant evidence that albinism is adaptive or maladaptive; however, if in fact it is the latter, then we did find evidence of incomplete compensation for declines in survival and

  11. Pigmentary disorders of the eyes and skin.

    Science.gov (United States)

    Que, Syril Keena T; Weston, Gillian; Suchecki, Jeanine; Ricketts, Janelle

    2015-01-01

    Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited. PMID:25704935

  12. Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome.

    Science.gov (United States)

    Sugino, Keishi; Gocho, Kyoko; Kikuchi, Naoshi; Shibuya, Kazutoshi; Uekusa, Toshimasa; Homma, Sakae

    2016-03-01

    A 30-year-old male smoker with congenital amblyopia and oculocutaneous albinism was admitted to our hospital complaining of progressive dyspnea on exertion. Chest computed tomography images revealed diffuse reticular opacities and honeycombing in the bilateral lower lobes with sparing of the subpleural region along with emphysema predominantly in the upper lobes. Lung biopsy specimens showed a mixture of usual interstitial pneumonia and a non-specific interstitial pneumonia pattern with emphysema. Of note, cuboidal epithelial cells with foamy cytoplasm on the alveolar walls and phagocytic macrophages with ceroid pigments in the fibrotic lesions were observed. The patient was diagnosed with Hermansky-Pudlak syndrome (HPS) associated with combined pulmonary fibrosis and emphysema (CPFE). Six years following the patient's initial admission to our hospital, he died from acute exacerbation (AE) of CPFE associated with HPS. This is one of only few reports available on the clinicopathological characteristics of AE in CPFE associated with HPS. PMID:26839694

  13. Role of the Ubiquitin Proteasome System in Regulating Skin Pigmentation

    Directory of Open Access Journals (Sweden)

    Hideya Ando

    2009-10-01

    Full Text Available Pigmentation of the skin, hair and eyes is regulated by tyrosinase, the critical rate-limiting enzyme in melanin synthesis by melanocytes. Tyrosinase is degraded endogenously, at least in part, by the ubiquitin proteasome system (UPS. Several types of inherited hypopigmentary diseases, such as oculocutaneous albinism and Hermansky-Pudlak syndrome, involve the aberrant processing and/or trafficking of tyrosinase and its subsequent degradation which can occur due to the quality-control machinery. Studies on carbohydrate modifications have revealed that tyrosinase in the endoplasmic reticulum (ER is proteolyzed via ER-associated protein degradation and that tyrosinase degradation can also occur following its complete maturation in the Golgi. Among intrinsic factors that regulate the UPS, fatty acids have been shown to modulate tyrosinase degradation in contrasting manners through increased or decreased amounts of ubiquitinated tyrosinase that leads to its accelerated or decelerated degradation by proteasomes.

  14. Piebaldism in a 3-month-old infant: Case report

    Directory of Open Access Journals (Sweden)

    Milankov Olgica

    2014-01-01

    Full Text Available Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ½ month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy’s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

  15. Michel Lelong, Les papes et l’islam

    OpenAIRE

    Youssef, Youhanna

    2010-01-01

    Le père Michel Lelong est un prêtre catholique et membre des Pères Blancs. Il est également un des fondateurs du Groupe d’amitié islamo-chrétienne. Ce livre est le dernier de l’auteur qui a déjà traité du sujet à maintes reprises nous pouvons citer parmi ces œuvres: J’ai rencontré l’islam (Cerf, 1976), Deux fidélités, une espérance (Cerf, 1979), La tradition islamique (Club du livre, 1979), L’islam et l’Occident (Albin Michel, 1982), L’Église nous parle de l’Islam: du Concile de Jean PaulII (...

  16. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  17. Spectral Analysis by XANES Reveals that GPNMB Influences the Chemical Composition of Intact Melanosomes

    Energy Technology Data Exchange (ETDEWEB)

    T Haraszti; C Trantow; A Hedberg-Buenz; M Grunze; M Anderson

    2011-12-31

    GPNMB is a unique melanosomal protein. Unlike many melanosomal proteins, GPNMB has not been associated with any forms of albinism, and it is unclear whether GPNMB has any direct influence on melanosomes. Here, melanosomes from congenic strains of C57BL/6J mice mutant for Gpnmb are compared to strain-matched controls using standard transmission electron microscopy and synchrotron-based X-ray absorption near-edge structure analysis (XANES). Whereas electron microscopy did not detect any ultrastructural changes in melanosomes lacking functional GPNMB, XANES uncovered multiple spectral phenotypes. These results directly demonstrate that GPNMB influences the chemical composition of melanosomes and more broadly illustrate the potential for using genetic approaches in combination with nano-imaging technologies to study organelle biology.

  18. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

    Science.gov (United States)

    Raghuveer, Chekuri; Murthy, Sambasiviah Chidambara; Mithuna, Mallur N; Suresh, Tamraparni

    2015-01-01

    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated. PMID:26622160

  19. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 1O-year-old child

    Institute of Scientific and Technical Information of China (English)

    Anselm Chi-Wai Lee; Kin-Hung Poon; Wing-Hong Lo; Lap-Gate Wong

    2008-01-01

    A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy,hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenumrevealed a lymphocytic infiltration in the submucosa,but H pylori infection was absent. The gastroduodenitis responded to the treatment with omeprazole while iron deficiency anemia was corrected by oral iron therapy.HPS is a rare cause of congenital bleeding disorder with multisystemic manifestations. Upper gastrointestinal involvement is rare and should be distinguished from a mere manifestation of the bleeding diathesis.

  20. Visit of Ambassadors from Latin America, Portugal and Spain to SM18.

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Left to right: Prof. Juan Antonio Rubio, Head of the Education and Technology Transfer Division; H.E. Mr Gustavo Albin, Ambassador, Permanent Representative of Mexico in Geneva; H.E. Mr Joaquìn Pérez-Villanueva y Tovar, Ambassador, Permanent Representative of Spain in Geneva; H.E. Mr Alvaro de Mendonça e Moura, Ambassador, Permanent Representative of Portugal in Geneva, Dr Norbert Siegel, Insertion, Correctors and Protection Group, LHC division; H.E. Mr Juan Enrique Vega, Ambassador, Permanent Representative of Chile in Geneva; Mr Rodrigo Espinosa, Counsellor, Permanent Mission of Chile in Geneva; H.E. Mr Horacio Emilio Solari, Ambassador, Permanent Representative of the Republic of Argentina in Geneva; Dr John Ellis, Adviser for Non-Member State Relations and Mr Enrique Ochoa, Third Secretary, Permanent Mission of Mexico in Geneva.

  1. [Hermansky-Pudlak syndrome].

    Science.gov (United States)

    Atili, A; Lübke, J; Shoukier, M; Schittkowski, M P

    2013-02-01

    A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child with light blond colored skin accompanied by black-haired parents. Physical and ophthalmic examination revealed nystagmus, AHP and oculocutaneous albinism. The molecular genetic analysis showed a mutation in the HPS-1 gene which confirmed the suspected diagnosis of Hermansky-Pudlak syndrome (HPS). Of clinical significance, patients with HPS commonly have hemorrhagic diathesis, granulomatous colitis or restrictive lung fibrosis. A detailed full medical history, ophthalmic examination as well as genetic analyses are essential in establishing the diagnosis of HPS. Treatment includes correcting refraction anomalies with spectacles or contact lenses, prescription of tinted glasses or surgical correction of the AHP. An internal medical consultation is also necessary for the management of other associated symptoms, such as hemorrhagic diathesis. PMID:22806537

  2. Organization and sequence of the human P gene and identification of a new family of transport proteins

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Fukai, K.; Spritz, R.A. [Univ. of Wisconsin School of Medicine, Madison, WI (United States)] [and others

    1995-03-20

    We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type H oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation. 40 refs., 5 figs., 3 tabs.

  3. PRIMARY CNS MELANOMA IN AN ALBINO: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Kishore

    2014-07-01

    Full Text Available Primary intracranial melanoma is a rare and uncommon lesion. Association of primary CNS melanoma in an albino has not been reported in literature searched till now. We are presenting a rare case of primary CNS melanoma in a 52years old male with occulocutaneous albinism. The patient presented with repeated episodes of generalized headache, vomiting and ataxia for duration of 5months. MRI examination showed a tumor in the posterior fossa that was diagnosed as Ependymoma radiologically. Surgical treatment with total removal of tumor was done. Intra-operative squash cytology and frozen section followed by histopathology confirmed the diagnosis of Melanoma. A thorough investigation of the patient was performed including chest radiography, ocular examination, ultrasonography of abdomen and barium enema to rule out any other site of primary melanoma in the body. Thus a final diagnosis of primary CNS melanoma was given.

  4. Genetics in Ophthalmology III – Posterior Segment Diseases

    Directory of Open Access Journals (Sweden)

    Canan Aslı Utine

    2012-10-01

    Full Text Available Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92

  5. An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.

    Science.gov (United States)

    Harada, Tatsuhiko; Ishimatsu, Yuji; Nakashima, Shota; Miura, Shiro; Tomonaga, Masaomi; Kakugawa, Tomoyuki; Hara, Shintaro; Sakamoto, Noriho; Yoshii, Chiharu; Mukae, Hiroshi; Kawabata, Yoshinori; Kohno, Shigeru

    2014-01-01

    Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on the presence of oculocutaneous albinism, hemorrhagic diathesis, ceroid-lipofuscin accumulation and pulmonary fibrosis. Although systemic steroids, immunosuppressants and pirfenidone were administered for pulmonary involvement, she died from respiratory failure two years later. Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. We herein report this very rare Japanese case of HPS with a review of the treatment approaches for HPS complicated with pulmonary fibrosis. PMID:25447654

  6. Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.

    Science.gov (United States)

    Furuhashi, Kazuki; Enomoto, Noriyuki; Fujisawa, Tomoyuki; Hashimoto, Dai; Inui, Naoki; Nakamura, Yutaro; Suda, Takafumi

    2014-01-01

    We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass opacity in the lungs, and a surgical lung biopsy revealed fibrotic NSIP. Foamy type 2 pneumocytes and the absence of dense granules in platelets were also observed, consistent with a diagnosis of HPS. Ultimately, a genetic analysis revealed a mutation in the HPS1 gene. The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia. PMID:24583434

  7. A new region of conservation is defined between human and mouse X chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Dinulos, M.B.; Disteche, C.M. [Univ. of Washington, Seattle, WA (United States); Bassi, M.T. [Univ. of Siena (Italy)] [and others

    1996-07-01

    Comparative mapping of the X chromosome in eutherian mammals have revealed distinct regions of conservation as well as evolutionary rearrangements between human and mouse. Recently, we and others mapped the murine homologue of CLCN4 (Chloride channel 4) to band F4 of the X chromosome in Mus spretus but to chromosome 7 in laboratory strains. We now report the mapping of the murine homologues of APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), two genes that are located on the human X chromosome at band p22.3 and in close proximity to CLCN4. Interestingly, Oa1 and Apxl map to bands F2-F3 in both M. spretus and the laboratory strain C57BL/6J, defining a new rearrangement between human and mouse X chromosomes. 17 refs., 2 figs., 1 tab.

  8. Spontaneous changes a basis for new ornamental woody plant cultivars

    Directory of Open Access Journals (Sweden)

    Đukić Matilda

    2006-01-01

    Full Text Available In nursery stock production of some ornamental woody plants the appearance of spontaneous variability was identified in the form of atypical pigmentation of leaves (albinism, variegated, red colored, leaves shape (jaggy and dwarfs. Mutated plants with variegated leaves were observed among hybrid plane (Platanus x acerifolia (Ait. Willd., Siberian elm (Ulmus pumila L., laurel cherry (Prunus laurocerasus L. and Lawson false-cypress (Chamaecyparis lawsoniana (Murr. Parl. Seedlings. The type of variegation and frequency were analyzed. Among plane tree and Siberian elm seedlings there were observed red colored leaves. Atypical, jaggy shaped leaves were found among laurel cherry seedlings. Dwarf growth was identified at Siberian elm and birch (Betula pendula Roth. where also found fruits at one year seedling. There were not significant differences in some morphological and physiological properties in plane tree seedlings with various pigmented leaves. .

  9. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.

    Science.gov (United States)

    Jaiswal, Pooja; Yadav, Yogesh Kumar; Bhasker, Nilam; Kushwaha, Rashmi

    2015-12-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder. PMID:26816903

  10. Generation of Hermansky Pudlak syndrome type 2 (HPS2 induced pluripotent stem cells (iPSCs

    Directory of Open Access Journals (Sweden)

    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome type 2 (HPS2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1 gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.

  11. Oral and dental findings of griscelli syndrome type 3

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    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  12. NATATION - French version only

    CERN Document Server

    2002-01-01

    Soyez nombreux à venir à la 17ème édition de GENÈVE NAGE 24 HEURES Du samedi 5 octobre, 14 heures au dimanche 6 octobre, 14 heures à la piscine des Vernets Chaque participant peut nager la longueur qu'il souhaite. Un classement d'entreprise est possible en vous inscrivant dans la catégorie « entreprise » sous le nom « CERN ». L'année dernière, le CERN avait obtenu la seconde place. Moyennant une plus grande participation, le CERN pourrait décrocher la première place cette année. Inscription gratuite à l'entrée de la piscine. Pour plus d'informations : Gino De Bilio, tél 7362 - Albin Wasem, tél 75865 - Catherine Delamare, tél 76085

  13. Chediak Higashi Syndrome masquerading as acute leukemia / storage disorder - A rare case report

    Directory of Open Access Journals (Sweden)

    Mirza Asif Baig

    2015-07-01

    CHS is characterised by partial oculocutaneous albinism, frequent fatal bacterial infections, bleeding diathesis and peripheral + Cranial nerve palsies. This disorder further culminates into accelerated phase (Lymphoproliferative Syndrome progressing into pancytopenia. CHS is due to single gene mutation in LYST (CHS gene localized to 1q chromosome. The diagnostic hallmark of CHS is presence of giant purple to blue violet inclusions in leucocytes. In this study granules are more prominent in Bone marrow than in PBS correlating well with previous studies. Approximately 85% of the cases, of CHS culminates into Accelerated phase showing Lymphohistiocytic infiltration progressing to pancytopenia and death due to infection. The very rare nature of this disease and its grave prognosis merits its reporting. [Int J Res Med Sci 2015; 3(7.000: 1785-1787

  14. Morb-related dolerites associated with the Etendeka volcanics, northwestern Namibia

    International Nuclear Information System (INIS)

    The volcanic rocks of the Etendeka Formation are spatially associated with, and intruded by, three suites of dolerites. One suite of dolerite dykes are equivalent in composition to the Tafelberg- and Albin-type low-Ti basalts. The second suite of Etendeka dolerites, termed the Horingbaai dolerites, form thin dykes and sills which intrude Damaran granites and the base of the Etendeka lava succession near the coast of Namibia. The Sr- and Nd- isotope data for these samples is shown, together with Sr-isotope data for an additional five Horingbaai samples. The third suite of Etendeka dolerites, termed the Huab dolerites, form a complex of large sills intruding Damaran schists and Karoo sediments in the Huab River valley.It is concluded that the Huab dolerites and the Etendeka basalts are most likely to be immediately post-volcanic in age. 4 figs., 6 refs

  15. An albino armored catfish Schizolecis guntheri (Siluriformes: Loricariidae from an Atlantic Forest coastal basin

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    Marcelo F. G. de Brito

    2005-03-01

    Full Text Available We report here on an albino specimen of Schizolecis guntheri caught in the rio Bonito in the rio Macaé basin, Rio de Janeiro State, southeastern Brazil. The hypothesis that albinism is more common in fishes with cryptobiotic and/or nocturnal habits is strengthened by additional records of this chromatic anomaly.Relatamos aqui o albinismo em um espécime de Schizolecis guntheri capturado no rio Bonito na bacia do rio Macaé, estado do Rio de Janeiro. A hipótese do albinismo ser mais comum em peixes com hábitos criptobióticos e/ou noturnos é fortalecida por registros adicionais desta anomalia cromática.

  16. Chediak-Higashi Syndrome: A Case Series from Karnataka, India.

    Science.gov (United States)

    Rudramurthy, Pradeep; Lokanatha, Hemalata

    2015-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes. PMID:26538743

  17. Isolamento reprodutivo entre Australorbis glabratus e A. nigricans Reproductive isolation between Australorbis glabratus and A. nigricans

    Directory of Open Access Journals (Sweden)

    W. Lobato Paraense

    1955-12-01

    Full Text Available Foram feitas provas de cruzamento entre espécimes de uma população de A. glabratus e de outra de A. nigricans, utilizando o fator de albinismo como mercador genético. O resultado dessas provas revelou completo isolamento reprodutivo entre ambas, permitindo separá-las como boas espécies de acôrdo com o critério biológico.Crossing experiments were made between specimens from one population of A. glabratus and another of A. nigricans, the factor of albinism having been used as genetic marker. The results of those experiments revealed a complete reproductive isolation between both population, thus indicating their specific distinctness according to the biological criterion.

  18. A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the cavefish Astyanax mexicanus.

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    Joshua B Gross

    2009-01-01

    Full Text Available The evolution of degenerate characteristics remains a poorly understood phenomenon. Only recently has the identification of mutations underlying regressive phenotypes become accessible through the use of genetic analyses. Focusing on the Mexican cave tetra Astyanax mexicanus, we describe, here, an analysis of the brown mutation, which was first described in the literature nearly 40 years ago. This phenotype causes reduced melanin content, decreased melanophore number, and brownish eyes in convergent cave forms of A. mexicanus. Crosses demonstrate non-complementation of the brown phenotype in F(2 individuals derived from two independent cave populations: Pachón and the linked Yerbaniz and Japonés caves, indicating the same locus is responsible for reduced pigmentation in these fish. While the brown mutant phenotype arose prior to the fixation of albinism in Pachón cave individuals, it is unclear whether the brown mutation arose before or after the fixation of albinism in the linked Yerbaniz/Japonés caves. Using a QTL approach combined with sequence and functional analyses, we have discovered that two distinct genetic alterations in the coding sequence of the gene Mc1r cause reduced pigmentation associated with the brown mutant phenotype in these caves. Our analysis identifies a novel role for Mc1r in the evolution of degenerative phenotypes in blind Mexican cavefish. Further, the brown phenotype has arisen independently in geographically separate caves, mediated through different mutations of the same gene. This example of parallelism indicates that certain genes are frequent targets of mutation in the repeated evolution of regressive phenotypes in cave-adapted species.

  19. Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India

    Directory of Open Access Journals (Sweden)

    Arun Roy

    2011-01-01

    Full Text Available Introduction: Chediak-Higashi syndrome (CHS is a rare autosomal recessive disorder characterized by partial ocular and cutaneous albinism, increased susceptibility to pyogenic infections, the presence of large lysosomal-like organelles in most granule-containing cells and a bleeding tendency. The abnormal granules are most readily seen in blood and marrow leukocytes, especially granulocytes; and in melanocytes. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. Materials and Methods: The clinico-hematological profile of a series of 5 cases of CHS encountered at JIPMER Hospital with diagnostic work-up done in the Department of Pathology over the last 6 years is presented. The diagnostic work-up included complete hemogram with peripheral smear, bone marrow examination, skin and liver biopsies. Results: The age of the patients ranged from 5 months to 3 years. All patients had silvery hair and partial albinism and presented with fever and recurrent chest infection. Two patients were stable. Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. Skin biopsy showed sparse, coarse melanin pigment in the epidermis, and liver biopsy done in 2 patients with accelerated phase showed portal lymphohistiocytic aggregates. Conclusions: The diagnostic hallmark of CHS is the occurrence of giant inclusion bodies (granules in the peripheral leukocyte and their bone marrow precursors. The case series is being presented because of the rarity of CHS and varied spectrum of clinical and hematological presentation.

  20. Cutaneous metabolic pathway of tyrosine as a precursor to melanin in Asinara’s white donkey, Equus asinus L., 1758

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    Maria Grazia Cappai

    2015-10-01

    Full Text Available L-tyrosine (L-Tyr is a conditionally indispensable amino acid for Equids. The biologic role of L-Tyr is ubiquitous, being involved in the production of hair and skin pigments. The white donkeys of Asinara island display a peculiar white coat, with life-long hypopigmentation of skin, hairs and eyes. Our results underline how the white phenotype is due to a disorder of melanin biosynthesis, detected in skin biopsies and on hair bulbs through immunohistochemical and enzymatic assays. The metabolic pathway of L-Tyr is compatible with the clinical frame of ocular-cutaneous albinism (OCA. The enzymatic activity in hair bulbs for the conversion of L-Tyr to L-3,4-dihydroxyphenilalanine (L-DOPA tested negative, but positive for L-DOPA conversion into eumelanin in the 100% of the Asinara’s white donkey. This is the case of a negative-tyrosinase albinism, which contemporarily excludes dietary deficiencies of phenylalanine (Phe or L-Tyr and potential incapability of Tyr intestinal uptake or Tyr conversion from Phe. The tyrosinase (TYR residual activity positively and significantly (P=0.012 correlates (P=0.897 with the albino phenotype of the Asinara’s white donkey. These results definitely point to the fact that Asinara’s white donkey population owes its phenotype to TYR residual activity, thus on genetic basis. From a comparative point of view, the albino form of the Asinara’s white donkeys is similar to the human OCA type 1, from which however differs for positively testing to L-DOPA conversion, upon incubation of hair bulbs in L-DOPA solutions.

  1. Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora).

    Science.gov (United States)

    Abreu, M S L; Machado, R; Barbieri, F; Freitas, N S; Oliveira, L R

    2013-02-01

    Anomalous colourations occur in many tropical vertebrates. However, they are considered rare in wild populations, with very few records for the majority of animal taxa. We report two new cases of anomalous colouration in mammals. Additionally, we compiled all published cases about anomalous pigmentation registered in Neotropical mammals, throughout a comprehensive review of peer reviewed articles between 1950 and 2010. Every record was classified as albinism, leucism, piebaldism or eventually as undetermined pigmentation. As results, we report the new record of a leucistic specimen of opossum (Didelphis sp.) in southern Brazil, as well as a specimen of South American fur seal (Arctocephalus australis) with piebaldism in Uruguay. We also found 31 scientific articles resulting in 23 records of albinism, 12 of leucism, 71 of piebaldism and 92 records classified as undetermined pigmentation. Anomalous colouration is apparently rare in small terrestrial mammals, but it is much more common in cetaceans and michrochiropterans. Out of these 198 records, 149 occurred in cetaceans and 30 in bats. The results related to cetaceans suggest that males and females with anomolous pigmentation are reproductively successful and as a consequence their frequencies are becoming higher in natural populations. In bats, this result can be related to the fact these animals orient themselves primarily through echolocation, and their refuges provide protection against light and predation. It is possible that anomalous colouration occurs more frequently in other Neotropical mammal orders, which were not formally reported. Therefore, we encourage researchers to publish these events in order to better understand this phenomenon that has a significant influence on animal survival. PMID:23644801

  2. Suitable gamma ray dose determination in order to induce genetic variation in kaboli chickpea (Cicer Arietinum L)

    International Nuclear Information System (INIS)

    In spite of chickpea's use in Iran and its ability of being replaced to adjust the shortage of protein in dietary habits, yield production is very low. One of the main reasons for chickpea's low yield production is its sensitiveness to some diseases, pest and environmental stresses. Genetic variation in chickpea is very low, because of its self pollination. In breeding programs, genetic variation plays an essential role so that the induction of genetic variation in plant population is very important for the plant breeders. The induced mutation through different kinds of mutagens is one of the important ways of genetic variation. In this research, first the sensitiveness of four cultivars (ILC.486, Philip86, Bivinich, Jam) were assessed to different gamma ray doses (100, 200, 300, 400 Gy). The results showed that with an increase in gamma ray dose, the growth rate of chickpea's genotypes decreases. In this respect, the decrease of growth rate has a linear relationship with the gamma ray dose and it is independent from the genotypes. The root length is more sensitive to gamma ray doses than its shoot, and it was observed that at the low doses the root growth decreases, comparing to the shoot growth. On the other hand, in high doses of gamma ray growth abrasion (Ageotropism, Albinism and etc.) were observed. Some traits variation (such as leaf shape, leaf size, leaf color, Albinism, etc.) were seen in M2 generation, and finally to continue the project, three doses of gamma ray (150,200,250) were selected for the next year

  3. Comparative analysis of transcriptomes from albino and control sea cucumbers,Apostichopus japonicus

    Institute of Scientific and Technical Information of China (English)

    MA Deyou; YANG Hongsheng; SUN Lina; XU Dongxue

    2014-01-01

    The sea cucumberApostichopus japonicus is an important economic species in China. Its dorsal body wall color is commonly tawny, whereas its ventral surface is fawn. Albino sea cucumbers are rarely observed. In order to profile gene expression and screen albinism-related genes, we compared the transcriptome of albino samples with a control by 454 cDNA sequencing. We found that 6 539 identified genes on the basis of sequence similarity to known genes were expressed in the albino A. japonicus. The gene ontology analysis indicated that the transcription of genes associated with the terms of biological regulation and pigmenta-tion was non-abundant in the albino library compared to the control. Based on an analysis using the Kyoto Encyclopedia of Genes and Genomics (KEGG) database, we identified 14 important genes that were in-volved in major intercellular signaling pathways related to melanin synthesis, such as tyrosine metabolism, the mitogen-activated protein kinase (MAPK) pathway, and melanogenesis. The expressions of fibroblast growth factor receptor 4 (FGFR4), protein kinase C (PKC), protein kinase A (PKA), and Ras genes were sig-nificantly down-regulated in the albino transcriptome compared with the control, while the expressions of homogentisate 1, 2-dioxygenase gene (HGO), cAMP-responsive element binding protein (CREB), transcrip-tion factor AP-1(c-jun), and calmodulin (CaM) were significantly up-regulated (Fisher's exact test,p < 0.05). These differentially expressed genes could be candidate genes for revealing the mechanism of albinism and investigating regulation of melanin synthesis inA. japonicus.

  4. Genome editing using TALENs in blind Mexican Cavefish, Astyanax mexicanus.

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    Li Ma

    Full Text Available Astyanax mexicanus, a teleost fish that exists in a river-dwelling surface form and multiple cave-dwelling forms, is an excellent system for studying the genetic basis of evolution. Cavefish populations, which independently evolved from surface fish ancestors multiple times, have evolved a number of morphological and behavioral traits. Quantitative trait loci (QTL analyses have been performed to identify the genetic basis of many of these traits. These studies, combined with recent sequencing of the genome, provide a unique opportunity to identify candidate genes for these cave-specific traits. However, tools to test the requirement of these genes must be established to evaluate the role of candidate genes in generating cave-specific traits. To address this need, we designed transcription activator-like effector nucleases (TALENs to target two genes that contain coding changes in cavefish relative to surface fish and map to the same location as QTL for pigmentation, oculocutaneous albinism 2 (oca2 and melanocortin 1 receptor (mc1r. We found that surface fish genes can be mutated using this method. TALEN-induced mutations in oca2 result in mosaic loss of melanin pigmentation visible as albino patches in F0 founder fish, suggesting biallelic gene mutations in F0s and allowing us to evaluate the role of this gene in pigmentation. The pigment cells in the albino patches can produce melanin upon treatment with L-DOPA, behaving similarly to pigment cells in albino cavefish and providing additional evidence that oca2 is the gene within the QTL responsible for albinism in cavefish. This technology has the potential to introduce a powerful tool for studying the role of candidate genes responsible for the evolution of cavefish traits.

  5. Genome editing using TALENs in blind Mexican Cavefish, Astyanax mexicanus.

    Science.gov (United States)

    Ma, Li; Jeffery, William R; Essner, Jeffrey J; Kowalko, Johanna E

    2015-01-01

    Astyanax mexicanus, a teleost fish that exists in a river-dwelling surface form and multiple cave-dwelling forms, is an excellent system for studying the genetic basis of evolution. Cavefish populations, which independently evolved from surface fish ancestors multiple times, have evolved a number of morphological and behavioral traits. Quantitative trait loci (QTL) analyses have been performed to identify the genetic basis of many of these traits. These studies, combined with recent sequencing of the genome, provide a unique opportunity to identify candidate genes for these cave-specific traits. However, tools to test the requirement of these genes must be established to evaluate the role of candidate genes in generating cave-specific traits. To address this need, we designed transcription activator-like effector nucleases (TALENs) to target two genes that contain coding changes in cavefish relative to surface fish and map to the same location as QTL for pigmentation, oculocutaneous albinism 2 (oca2) and melanocortin 1 receptor (mc1r). We found that surface fish genes can be mutated using this method. TALEN-induced mutations in oca2 result in mosaic loss of melanin pigmentation visible as albino patches in F0 founder fish, suggesting biallelic gene mutations in F0s and allowing us to evaluate the role of this gene in pigmentation. The pigment cells in the albino patches can produce melanin upon treatment with L-DOPA, behaving similarly to pigment cells in albino cavefish and providing additional evidence that oca2 is the gene within the QTL responsible for albinism in cavefish. This technology has the potential to introduce a powerful tool for studying the role of candidate genes responsible for the evolution of cavefish traits. PMID:25774757

  6. Alterations in Mc1r gene expression are associated with regressive pigmentation in Astyanax cavefish.

    Science.gov (United States)

    Stahl, Bethany A; Gross, Joshua B

    2015-11-01

    Diverse changes in coloration across distant taxa are mediated through alterations in certain highly conserved pigmentation genes. Among these genes, Mc1r is a frequent target for mutation, and many documented alterations involve coding sequence changes. We investigated whether regulatory mutations in Mc1r may also contribute to pigmentation loss in the blind Mexican cavefish, Astyanax mexicanus. This species comprises multiple independent cave populations that have evolved reduced (or absent) melanic pigmentation as a consequence of living in darkness for millions of generations. Among the most salient cave-associated traits, complete absence (albinism) or reduced levels of pigmentation (brown) have long been the focus of degenerative pigmentation research in Astyanax. These two Mendelian traits have been linked to specific coding mutations in Oca2 (albinism) and Mc1r (brown). However, four of the seven caves harboring the brown phenotype exhibit unaffected coding sequences compared to surface fish. Thus, diverse genetic changes involving the same genes likely impact reduced pigmentation among cavefish populations. Using both sequence and expression analyses, we show that certain cave-dwelling populations harboring the brown mutation have substantial alterations to the putative Mc1r cis-regulatory region. Several of these sequence mutations in the Mc1r 5' region were present across multiple, independent cave populations. This study suggests that pigmentation reduction in Astyanax cavefish evolves through a combination of both coding and cis-regulatory mutations. Moreover, this study represents one of the first attempts to identify regulatory alterations linked to regressive changes in cave-dwelling populations of A. mexicanus. PMID:26462499

  7. Dopamine signaling regulates the projection patterns in the mouse chiasm.

    Science.gov (United States)

    Chen, Tingting; Hu, Yunlong; Lin, Xiaotan; Huang, Xinping; Liu, Bin; Leung, Peggy; Chan, Sun-On; Guo, Deyin; Jin, Guangyi

    2015-11-01

    Ocular albinism (OA) is characterized by inadequate L-3, 4-dihydroxyphenylalanine (L-DOPA) and dopamine (DA) in the eyes. This study investigated DA-related signaling pathways in mouse chiasm projection patterns and the potential role of ocular albinism type 1 (OA1) and dopamine 1A (D1A) receptors in the optic pathway. In embryonic day (E) E13-E15 retina, most L-DOPA and OA1-positive cells were distributed among Müller glial cells on E13 and retinal ganglion cells (RGC) on E14. In the ventral diencephalon, OA1 and L-DOPA were strongly expressed on the optic chiasm (OC) and optic tract (OT), respectively, but weak on the optic stalk (OS). At E13-E15, DA and D1A staining was predominately expressed in radially arranged cells with a neuronal expression pattern. In the ventral diencephalon, DA and D1A were strongly expressed on the OC, OT and OS. Furthermore, L-DOPA significantly inhibited retinal axon outgrowth in both the dorsal nasal (DN) and ventral temporal (VT) groups. DA inhibited retinal axon outgrowth, which was abolished by the D1A antagonist SCH23390. Brain slice cultures indicated that L-DOPA inhibited axons that crossed at the OC of E13 embryos, which was not abolished by DA. L-DOPA also inhibited axons that crossed at the OC of albino mice. Albino mice exhibited reduced ipsilateral retinal projections compared with C57 pigmented mice. No significant difference was identified in the uncrossed projections of albino mice following L-DOPA and DA expression. Furthermore, transcription factor Zic family member 2 (Zic2) upregulated OA1 mRNA expression. Our findings provide critical insights into DA-related signaling in retinal development. PMID:26363092

  8. Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases

    Directory of Open Access Journals (Sweden)

    Mabula Joseph B

    2012-06-01

    Full Text Available Abstract Background Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed. The aim of this study was to outline the pattern and treatment outcome of skin cancers among albinos treated at our centre and to highlight challenges associated with the care of these patients and proffer solutions for improved outcome. Methods This was a retrospective study of all albinos with a histopathological diagnosis of skin cancer seen at Bugando Medical Centre from March 2001 to February 2010. Data collected were analyzed using descriptive statistics. Results A total of 64 patients were studied. The male to female ratio was 1.5:1. The median age of patients was 30 years. The median duration of illness at presentation was 24 months. The commonest reason for late presentation was financial problem. Head and the neck was the most frequent site afflicted in 46(71.8% patients. Squamous cell carcinoma was the most common histopathological type in 75% of cases. Surgical operation was the commonest modality of treatment in 60 (93.8% patients. Radiotherapy was given in 24(37.5% patients. Twenty-seven (42.2% of the patients did not complete their treatment due to lack of funds. Local recurrence following surgical treatment was recorded in 6 (30.0% patients. Only thirty-seven (61.7% patients were available for follow-up at 6–12 months and the remaining patients were lost to follow-up. Conclusions Skin cancers are the most common cancers among albinos in our environment. Albinism and exposure to ultraviolet light appears to be the most important risk factor in the development of these cancers. Late presentation and failure to complete treatment due to financial difficulties and lack of radiotherapy services at our centre are major challenges in the care of these patients. Early institution of preventive

  9. Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.

    Directory of Open Access Journals (Sweden)

    Alejandra Young

    Full Text Available BACKGROUND: Ocular albinism type 1, an X-linked disease characterized by the presence of enlarged melanosomes in the retinal pigment epithelium (RPE and abnormal crossing of axons at the optic chiasm, is caused by mutations in the OA1 gene. The protein product of this gene is a G-protein-coupled receptor (GPCR localized in RPE melanosomes. The Oa1-/- mouse model of ocular albinism reproduces the human disease. Oa1 has been shown to immunoprecipitate with the Gαi subunit of heterotrimeric G proteins from human skin melanocytes. However, the Gαi subfamily has three highly homologous members, Gαi1, Gαi2 and Gαi3 and it is possible that one or more of them partners with Oa1. We had previously shown by in-vivo studies that Gαi3-/- and Oa1-/- mice have similar RPE phenotype and decussation patterns. In this paper we analyze the specificity of the Oa1-Gαi interaction. METHODOLOGY: By using the genetic mouse models Gαi1-/-, Gαi2-/-, Gαi3-/- and the double knockout Gαi1-/-, Gαi3-/- that lack functional Gαi1, Gαi2, Gαi3, or both Gαi1 and Gαi3 proteins, respectively, we show that Gαi3 is critical for the maintenance of a normal melanosomal phenotype and that its absence is associated with changes in melanosomal size and density. GST-pull-down and immunoprecipitation assays conclusively demonstrate that Gαi3 is the only Gαi that binds to Oa1. Western blots show that Gαi3 expression is barely detectable in the Oa1-/- RPE, strongly supporting a previously unsuspected role for Gαi3 in melanosomal biogenesis. CONCLUSION: Our results identify the Oa1 transducer Gαi3 as the first downstream component in the Oa1 signaling pathway.

  10. Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes

    Science.gov (United States)

    Boitet, Evan R.; Turner, Ashley N.; Johnson, Larry W.; Kennedy, Daniel; Downs, Ethan R.; Hymel, Katherine M.; Gross, Alecia K.; Kesterson, Robert A.

    2016-01-01

    Tyrosinase is a key enzyme in melanin biosynthesis. Mutations in the gene encoding tyrosinase (Tyr) cause oculocutaneous albinism (OCA1) in humans. Alleles of the Tyr gene have been useful in studying pigment biology and coat color formation. Over 100 different Tyr alleles have been reported in mice, of which ≈24% are spontaneous mutations, ≈60% are radiation-induced, and the remaining alleles were obtained by chemical mutagenesis and gene targeting. Therefore, most mutations were random and could not be predicted a priori. Using the CRISPR-Cas9 system, we targeted two distinct regions of exon 1 to induce pigmentation changes and used an in vivo visual phenotype along with heteroduplex mobility assays (HMA) as readouts of CRISPR-Cas9 activity. Most of the mutant alleles result in complete loss of tyrosinase activity leading to an albino phenotype. In this study, we describe two novel in-frame deletion alleles of Tyr, dhoosara (Sanskrit for gray) and chandana (Sanskrit for sandalwood). These alleles are hypomorphic and show lighter pigmentation phenotypes of the body and eyes. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene. PMID:27224051

  11. The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt Stress Tolerance and Functions as a Regulator of Transcript Stabilization and Localization.

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    Alexandra Steffens

    2015-07-01

    Full Text Available Members of the highly conserved class of BEACH domain containing proteins (BDCPs have been established as broad facilitators of protein-protein interactions and membrane dynamics in the context of human diseases like albinism, bleeding diathesis, impaired cellular immunity, cancer predisposition, and neurological dysfunctions. Also, the Arabidopsis thaliana BDCP SPIRRIG (SPI is important for membrane integrity, as spi mutants exhibit split vacuoles. In this work, we report a novel molecular function of the BDCP SPI in ribonucleoprotein particle formation. We show that SPI interacts with the P-body core component DECAPPING PROTEIN 1 (DCP1, associates to mRNA processing bodies (P-bodies, and regulates their assembly upon salt stress. The finding that spi mutants exhibit salt hypersensitivity suggests that the local function of SPI at P-bodies is of biological relevance. Transcriptome-wide analysis revealed qualitative differences in the salt stress-regulated transcriptional response of Col-0 and spi. We show that SPI regulates the salt stress-dependent post-transcriptional stabilization, cytoplasmic agglomeration, and localization to P-bodies of a subset of salt stress-regulated mRNAs. Finally, we show that the PH-BEACH domains of SPI and its human homolog FAN (Factor Associated with Neutral sphingomyelinase activation interact with DCP1 isoforms from plants, mammals, and yeast, suggesting the evolutionary conservation of an association of BDCPs and P-bodies.

  12. Você conhece esta síndrome? Do you know this syndrome?

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    Erick Dancuart Omar

    2007-04-01

    Full Text Available Na síndrome de Waardenburg, genodermatose autossômica dominante, distúrbios da pigmentação (hipo ou acromia de pele e cabelos, heterocromia da íris podem se associar a surdez, distopia do canto interno do olho e, eventualmente, outras malformações de intestino e ósseas. Os autores relatam um caso clínico da síndrome de Waardenburg tipo 2B, apresentam a classificação da doença com os critérios diagnósticos e discutem o diagnóstico diferencial, que deve ser feito com vitiligo, piebaldismo e diferentes formas de albinismo.Waardenburg syndrome is a dominant autosomal condition in which alterations of pigmentation (hypochromia or achromia of the skin and hair, heterochromia of the iris can be associated with deafness, lateral displacement of the inner canthi of the eyes and occasionally bowel or skeletal malformations. We report a case of Waardenburg syndrome type 2B, present the classification of the disease with diagnostic criteria and discuss differential diagnosis, which should include vitiligo, piebaldism and different forms of albinism.

  13. Labelling of the pineal gland with 99mTc-glucose-6-phosphate

    International Nuclear Information System (INIS)

    Lately, the pineal body has been the subject of a large variety of studies. Only recently it has been understood the role played by this endocrine gland to maintain the balance of the human body and also in animal models. Although small in dimensions, the pineal body is a very active organ, able to transmit precise temporal information. It probably participates in the synchronization of several organic functions. The present work aims to study a possible use of 99mTc-glucose-6-P as a tracer for the pineal gland. Histoautoradiographic studies have been performed in Wistar rats. Tomoscintigraphic studies were acquired in patients and in albine rabbits (oryctolagus cuniculus hyplus). The labelling efficiency and the radiochemical purity of the labelled products have always been tested. Animal and human SPECT exams, show an activity focus projected over the area corresponding to the pineal body localization. Autoradiographic studies using [1-14C]-glucose-6-P did not reveal a more relevant activity at the pineal level, probably due to its hepatic conversion to 14C-glucose. (author)

  14. Tyrosinase gene mutations in the Chinese Han population with OCA1.

    Science.gov (United States)

    Liu, Ning; Kong, Xiang Dong; Shi, Hui Rong; Wu, Qing Hua; Jiang, Miao

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk. PMID:25577957

  15. In Silico Screening and Molecular Dynamics Simulation of Disease-Associated nsSNP in TYRP1 Gene and Its Structural Consequences in OCA3

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    Balu Kamaraj

    2013-01-01

    Full Text Available Oculocutaneous albinism type III (OCA3, caused by mutations of TYRP1 gene, is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the hair, skin, and eyes. The TYRP1 gene encodes a protein called tyrosinase-related protein-1 (Tyrp1. Tyrp1 is involved in maintaining the stability of tyrosinase protein and modulating its catalytic activity in eumelanin synthesis. Tyrp1 is also involved in maintenance of melanosome structure and affects melanocyte proliferation and cell death. In this work we implemented computational analysis to filter the most probable mutation that might be associated with OCA3. We found R326H and R356Q as most deleterious and disease associated by using PolyPhen 2.0, SIFT, PANTHER, I-mutant 3.0, PhD-SNP, SNP&GO, Pmut, and Mutpred tools. To understand the atomic arrangement in 3D space, the native and mutant (R326H and R356Q structures were modelled. Finally the structural analyses of native and mutant Tyrp1 proteins were investigated using molecular dynamics simulation (MDS approach. MDS results showed more flexibility in native Tyrp1 structure. Due to mutation in Tyrp1 protein, it became more rigid and might disturb the structural conformation and catalytic function of the structure and might also play a significant role in inducing OCA3. The results obtained from this study would facilitate wet-lab researches to develop a potent drug therapies against OCA3.

  16. Aberraciones cromáticas en aves de la colección ornitológica del Museo Argentino de Ciencias Naturales “Bernardino Rivadavia” Chromatic aberrations in birds of the ornithological collection of the Museo Argentino de Ciencias Naturales “Bernardino Rivadavia”

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    Matías Ricardo Urcola

    2011-12-01

    Full Text Available En el presente trabajo se determinan las aberraciones cromáticas que afectan el plumaje de las aves en la colección ornitológica del Museo Argentino de Ciencias Naturales de Buenos Aires. Estas alteraciones se deben a exceso o defecto en la producción y/o deposición del pigmento melanina, las familias afectadas pertenecen a Tinamidae, Spheniscidae, Ardeidae, Threskiornithidae, Anatidae, Falconidae, Rallidae, Charadriidae, Columbidae, Strigidae, Momotidae, Furnariidae, Mimidae, Motacillidae, Emberizidae e Icteridae. Dentro de las aberraciones propuestas el leucismo parcial (40,5 % es la más numerosa, seguida por la dilución pastel (23,8 %, albinismo (14,3 % y finalmente los plumajes brown, ino y eumelanismo parcial (7,1 % cada una.The paper makes out a strong case for determine chromatic aberrations that affect the coloring of the birds in the ornithological collection of the Museo Argentino de Ciencias Naturales de Buenos Aires. These alterations are due to excess or deficiency in the production and/or deposition of melanin pigment, the affect families belong to Tinamidae, Spheniscidae, Ardeidae, Threskiornithidae, Anatidae, Falconidae, Rallidae, Charadriidae, Columbidae, Strigidae, Momotidae, Furnariidae, Mimidae, Motacillidae, Emberizidae and Icteridae. Within the proposed changes, the partial leucism (40,5 % is the most numerous, followed by pastel dilution (23,8 %, albinism (14,3 % and finally brown aberrations, ino and partial eumelanism, each one of then had (7,1 %.

  17. Histological review of skin cancers in African Albinos: a 10-year retrospective review

    International Nuclear Information System (INIS)

    Skin cancer is rare among Africans and albinism is an established risk for skin cancer in this population. Ultraviolet radiation is highest at the equator and African albinos living close to the equator have the highest risk of developing skin cancers. This was a retrospective study that involved histological review of all specimens with skin cancers from African albinos submitted to The Regional Dermatology Training Center in Moshi, Tanzania from 2002 to 2011. A total of 134 biopsies from 86 patients with a male to female ratio of 1:1 were reviewed. Head and neck was the commonest (n = 75, 56.0%) site affected by skin cancers. Squamous cell carcinoma (SCC) was more common than basal cell carcinoma (BCC) with a ratio of 1.2:1. Only one Acral lentiginous melanoma was reported. Majority (55.6%) of SCC were well differentiated while nodular BCC (75%) was the most common type of BCC. Squamous cell carcinoma is more common than basal cell carcinoma in African albinos

  18. [Genodermatosis in man and animal. Comparative overview].

    Science.gov (United States)

    Küster, W; Happle, R

    1983-11-01

    Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients. PMID:6358130

  19. Spectrum of fibrosing diffuse parenchymal lung disease.

    Science.gov (United States)

    Morgenthau, Adam S; Padilla, Maria L

    2009-02-01

    The interstitial lung diseases are a heterogeneous group of disorders characterized by inflammation and/or fibrosis of the pulmonary interstitium. In 2002, the American Thoracic Society and the European Respiratory Society revised the classification of interstitial lung diseases and introduced the term diffuse parenchymal lung disease. The idiopathic interstitial pneumonias are a subtype of diffuse parenchymal lung disease. The idiopathic interstitial pneumonias are subdivided into usual interstitial pneumonia (with its clinical counterpart idiopathic interstitial pneumonia), nonspecific interstitial pneumonia, cryptogenic organizing pneumonia, acute interstitial pneumonia, desquamative interstitial pneumonia, respiratory bronchiolitis interstitial lung disease, and lymphocytic pneumonia. Sarcoidosis and hypersensitivity pneumonitis are the 2 most common granulomatous diffuse parenchymal lung diseases. Rheumatoid arthritis, systemic sclerosis, and dermatomyositis/polymyositis (causing antisynthetase syndrome) are diffuse parenchymal lung diseases of known association because these conditions are associated with connective tissue disease. Hermansky-Pudlak syndrome is a rare genetic diffuse parenchymal lung disease characterized by the clinical triad of pulmonary disease, oculocutaneous albinism, and bleeding diathesis. This review provides an overview of the chronic fibrosing diffuse parenchymal lung diseases. Its primary objective is to illuminate the clinical challenges encountered by clinicians who manage the diffuse parenchymal lung diseases regularly and to offer potential solutions to those challenges. Treatment for the diffuse parenchymal lung diseases is limited, and for many patients with end-stage disease, lung transplantation remains the best option. Although much has been learned about the diffuse parenchymal lung diseases during the past decade, research in these diseases is urgently needed. PMID:19170214

  20. Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital.

    Science.gov (United States)

    Tanioka, Miki; Yamamoto, Yosuke; Katoh, Mayumi; Takahashi, Kenzo; Miyachi, Yoshiki

    2009-01-01

    We reviewed the causes of "loss of skin color" in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus. One forth of the patients with generalized vitiligo had complications, while no complications were found in the patients with segmental vitiligo. Among the complications, autoimmune diseases dominated 43% (10 of 23 cases). Autoimmune thyroid diseases explained for the most of the complicated autoimmune diseases and were associated with 7.4% of the patients with generalized vitiligo. Minor autoimmune complications include myasthenia gravis, Sjogren syndrome and autoimmune nephritis. Reflecting the condition that our clinic is located in a university hospital, vitiligo patients with end-stage non-melanoma cancers of internal organs accounted for 8.4% of the patients of generalized vitiligo. PMID:20046588

  1. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.

    Science.gov (United States)

    Hoyle, Diego J; Rodriguez-Fernandez, Imilce A; Dell'angelica, Esteban C

    2011-04-01

    The biogenesis of melanosomes is a multistage process that requires the function of cell-type-specific and ubiquitously expressed proteins. OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with restricted expression pattern and a potential role in the trafficking of other proteins to melanosomes. The ubiquitous protein complexes AP-3, BLOC-1, and BLOC-2, which contain as subunits the products of genes defective in various types of Hermansky-Pudlak syndrome, have been likewise implicated in trafficking to melanosomes. We have tested for genetic interactions between mutant alleles causing deficiency in OCA2 (pink-eyed dilution unstable), AP-3 (pearl), BLOC-1 (pallid), and BLOC-2 (cocoa) in C57BL/6J mice. The pallid allele was epistatic to pink-eyed dilution, and the latter behaved as a semi-dominant phenotypic enhancer of cocoa and, to a lesser extent, of pearl. These observations suggest functional links between OCA2 and these three protein complexes involved in melanosome biogenesis. PMID:21392365

  2. Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes.

    Science.gov (United States)

    Rahman, Mokhlasur; Haberman, Adam; Tracy, Charles; Ray, Sanchali; Krämer, Helmut

    2012-12-01

    Chediak-Higashi syndrome (CHS) is a lethal disease caused by mutations that inactivate the lysosomal trafficking regulator protein (LYST). Patients suffer from diverse symptoms including oculocutaneous albinism, recurrent infections, neutropenia and progressive neurodegeneration. These defects have been traced back to over-sized lysosomes and lysosome-related organelles (LROs) in different cell types. Here, we explore mutants in the Drosophila mauve gene as a new model system for CHS. The mauve gene (CG42863) encodes a large BEACH domain protein of 3535 amino acids similar to LYST. This reflects a functional homology between these proteins as mauve mutants also display enlarged LROs, such as pigment granules. This Drosophila model also replicates the enhanced susceptibility to infections and we show a defect in the cellular immune response. Early stages of phagocytosis proceed normally in mauve mutant hemocytes but, unlike in wild type, late phagosomes fuse and generate large vacuoles containing many bacteria. Autophagy is similarly affected in mauve fat bodies as starvation-induced autophagosomes grow beyond their normal size. Together these data suggest a model in which Mauve functions to restrict homotypic fusion of different pre-lysosomal organelles and LROs. PMID:22934826

  3. Efectos del stress antes del embarazo y a los ocho días de preñez, sobre la exploración, la defecación y el peso corporal de las crías de ratones

    Directory of Open Access Journals (Sweden)

    Francisco Pereira

    1980-01-01

    Full Text Available The effects of stress before pregnancy and on the 8th. day of pregnancy on the exploration, defecation, and body weígth, of the offspring, was studied in roice. Sixteen albine Swiss females were divided in four groups of four mice each. In group 1 the females were subjected to electric shock on the 8th. day of pregnancy; in group U, they were given the shock on the 8th. day before pregnancy; females of groups IU and IV were used as controls. Fifty to síxty days after birth, the 125 subjects (the offspring were tested on exploration, defecation, and body weight. On the exploration variable there were sígnífícant differences between groups I and UI, and between groups I and IV. On the other hand, no differences were found between groups 1 and U. Similar results were found on defecation and body weight. The findings are díscussed in relation lo previous investigations

  4. Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

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    Kerry Morrone

    2010-01-01

    Full Text Available Background. Chediak-Higashi syndrome (CHS is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an “accelerated phase” characterized by hemophagocytic lymphohistiocytosis (HLH. The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. We report the case of an African-American child with CHS in Case. This 16-month old African-American girl presented with fever and lethargy. The proband had pale skin compared to her parents, with light brown eyes, silvery hair and massive hepatosplenomegaly. Her laboratory evaluation was remarkable for pancytopenia, high serum ferritin and an elevated LDH. Bone marrow aspirate revealed large inclusions in granulocytes and erythrophagocytosis consistent with HLH. Genetic evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C>T (p.Q1208X and c.11002G>T (p.E3668X. Conclusions. Our patient is one of the few cases of CHS reported in the African American population. We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome. These two mutations predict a severe phenotype and thus identification of these mutations has an important clinical significance in CHS.

  5. Conceptualizing science learning as a collective social practice: changing the social pedagogical compass for a child with visual impairment

    Science.gov (United States)

    Fleer, Marilyn; March, Sue

    2015-09-01

    The international literature on science learning in inclusive settings has a long history, but it is generally very limited in scope. Few studies have been undertaken that draw upon a cultural-historical reading of inclusive pedagogy, and even less in the area of science education. In addition, we know next to nothing about the science learning of preschool children with visual impairment using cultural-historical theory. This paper seeks to fill this gap by presenting a study of one child with Albinism who participated in a unit of early childhood science where fairy tales were used for learning about the concepts of sound and growth. This paper reports upon the social and material conditions that were created to support learning in the preschool, whilst also examining how the learning of growth and sound were supported at home. The study found three new pedagogical features for inclusion: Imagination in science; Ongoing scientific narrative; and Scientific mirroring. It was found that when a dialectical reading of home and centre practices feature, greater insights into inclusive pedagogy for science learning are afforded, and a view of science as a collective enterprise emerges. It is argued that a cultural-historical conception of inclusion demands that the social conditions, rather than the biology of the child, is foregrounded, and through this greater insights into how science learning for children with visual impairment is gained.

  6. Genetic control of some morphological mutants in sunflower [Helianthus annuus L.

    International Nuclear Information System (INIS)

    Inheritance study of induced mutants is an important tool in genetic and breeding programs. Sunflower is one of the most important oil crops for which mutant collection is meager. Seeds of sunflower line AS-613 were irradiated with gamma rays and mutant phenotypes were traced until M4 generation. In M5 generation, the following traits were studied: dwarfing, branching, leaf shape, albinism, rosette, lack of apex and alternative leaves. In most cases, the mutated characters were controlled by a single recessive gene, while in two cases they were controlled by two recessive genes. In M5 progenies, segregation for two albino, one alternative leaves, one dwarfism, 5 branching, one rosette, 2 lacks of apex and 5 leaf shape mutants was recorded. Amongst five cases of branching, one was controlled by two recessive genes, where at least one homozygote recessive locus was necessary for branching. In one case, the lack of apex was controlled by two recessive genes and even only one dominant allele could provoke the normal plant

  7. Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

    Science.gov (United States)

    Altarescu, Gheona; Beeri, Rachel; Eiges, Rachel; Epsztejn-Litman, Silvina; Eldar-Geva, Talia; Elstein, Deborah; Zimran, Ari; Margalioth, Ehud J; Levy-Lahad, Ephrat; Renbaum, Paul

    2012-01-01

    Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism). These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research. PMID:23320174

  8. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Gheona Altarescu

    2012-01-01

    Full Text Available Preimplantation genetic diagnosis (PGD allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD: Tay-Sachs disease (TSD, Gaucher disease (GD, Fabry disease (FD, and Hunter syndrome (HS, and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14, and HS/oculocutaneus albinism. These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research.

  9. Is the existing knowledge and skills of health workers regarding eye care in children sufficient to meet needs?

    Science.gov (United States)

    Kishiki, Elizabeth; Hogeweg, Margreet; Dieleman, Marjolein; Lewallen, Susan; Courtright, Paul

    2012-12-01

    Although uncommon, childhood blindness is a major contributor to blind-person years in Africa. Children with vision-related problems need urgent referral, but existing evidence suggests that there is delay in presentation. A pilot study in a random selection of government dispensaries in two districts of Kilimanjaro Region, Tanzania, was conducted to assess the knowledge and skills of primary healthcare workers regarding eye care needs of children. Questionnaires were administered to 16 healthcare workers, and in-depth interviews were conducted with 9 health workers and 2 key informants. Overall, 88% of workers recognised cataract in a picture, 63% knew that it required surgery but only 50% realised surgery was urgent. Only 38% recognised squint as needing referral and none considered this urgent. Moreover, 38% could correctly suggest a cause of a large corneal scar and 44% of workers believed that children with albinism need to attend schools for the blind. Poor knowledge of referral and treatment guidelines are likely due to a number of factors, including inadequate training and the rarity of childhood blindness. Primary eye care manuals should be reviewed to ensure that information regarding childhood blindness is adequate and appropriate. Referral pathways should also be revised. PMID:24029677

  10. Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes.

    Science.gov (United States)

    Cheng, Tsing; Orlow, Seth J; Manga, Prashiela

    2013-11-01

    Accumulation of proteins in the endoplasmic reticulum (ER) typically induces stress and initiates the unfolded protein response (UPR) to facilitate recovery. If homeostasis is not restored, apoptosis is induced. However, adaptation to chronic UPR activation can increase resistance to subsequent acute ER stress. We therefore investigated adaptive mechanisms in Oculocutaneous albinism type 2 (Oca2)-null melanocytes where UPR signaling is arrested despite continued tyrosinase accumulation leading to resistance to the chemical ER stressor thapsigargin. Although thapsigargin triggers UPR activation, instead of Perk-mediated phosphorylation of eIF2α, in Oca2-null melanocytes, eIF2α was rapidly dephosphorylated upon treatment. Dephosphorylation was mediated by the Gadd34-PP1α phosphatase complex. Gadd34-complex inhibition blocked eIF2α dephosphorylation and significantly increased Oca2-null melanocyte sensitivity to thapsigargin. Thus, Oca2-null melanocytes adapt to acute ER stress by disruption of pro-apoptotic Perk signaling, which promotes cell survival. This is the first study to demonstrate rapid eIF2α dephosphorylation as an adaptive mechanism to ER stress. PMID:23962237

  11. Reduced glutathione disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization.

    Science.gov (United States)

    Nakajima, Hiroaki; Nagata, Takeshi; Koga, Shihiro; Imokawa, Genji

    2014-01-01

    We previously reported that treatment of B16 melanotic melanoma cells with reduced glutathione (GSH) converts them to amelanotic cells without any significant down-regulation of tyrosinase activity. To characterize the cellular mechanism(s) involved, we determined the intracellular distribution of melanocyte-specific proteins, especially in melanin synthesis-specific organelles, termed melanosomes by subcellular fractionation followed by Western blotting and confocal laser microscopy (CFLM). In the melanosome-rich large granule fraction and in highly purified melanosome fractions, while GSH-induced amelanotic B16 cells have significantly diminished levels of protein/activity of tyrosinase and tyrosinase-related protein-1 compared with control melanized B16 cells, there was substantially no difference in the distribution and levels of dopachrome tautomerase and the processed isoform of Pmel17 (HMB45) between control melanized and GSH-induced amelanotic B16 cells. Analysis of merged images obtained by CFLM revealed that whereas tyrosinase, Pmel17 and dopachrome tautomerase colocalize with each other in the control melanized B16 cells, tyrosinase does not colocalize with Pmel17 or its processed isoform and with dopachrome tautomerase in GSH-induced amelanotic B16 cells. The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. PMID:23764898

  12. Low Vision Management For Infantile Nystagmus: A Case Study

    Directory of Open Access Journals (Sweden)

    Alexandra Troy, OD

    2015-02-01

    Full Text Available Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving. This article provides a review of pathogenesis, epidemiology, and treatment of infantile nystagmus. A case study highlights low vision strategies and management for the condition. Case Report: A 12-year-old male with infantile nystagmus presented to the satellite low vision pediatric clinic for initial evaluation. He reported difficulty with different tasks at school secondary to his visual impairment. Low vision intervention utilized various devices and strategies to meet his distance and near goals. Discussion: With no known cure, low vision rehabilitation is important for individuals with nystagmus to allow them to reach their highest potential. Rehabilitation techniques can easily be applied by a primary care optometrist.

  13. Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2.

    Science.gov (United States)

    Hamidieh, Amir Ali; Pourpak, Zahra; Yari, Kolsoum; Fazlollahi, Mohammad Reza; Hashemi, Susan; Behfar, Maryam; Moin, Mostafa; Ghavamzadeh, Ardeshir

    2013-08-01

    Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of transplantation with RIC regimen in five patients. The median age at transplantation was 21.6 months (range: 12-30). All of the patients underwent HSCT from HLA-matched related donors. Currently, four patients are cured, and symptoms of recurrent infections and HLH crisis are not seen in them. The only patient who died had undergone HSCT in the accelerated phase of HLH. One patient who developed acute GvHD had a favorable response to therapy. No chronic GvHD occurred in patients. It seems that the use of RIC regimen as a method of transplant preparation is effective and tolerable in this group of patients with various comorbidities. It is recommended to carry out HSCT in these patients at lower ages, before presentations of different infections and HLH crisis. PMID:23714271

  14. oca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish.

    Science.gov (United States)

    Beirl, Alisha J; Linbo, Tor H; Cobb, Marea J; Cooper, Cynthia D

    2014-03-01

    We characterized a zebrafish mutant that displays defects in melanin synthesis and in the differentiation of melanophores and iridophores of the skin and retinal pigment epithelium. Positional cloning and candidate gene sequencing link this mutation to a 410-kb region on chromosome 6, containing the oculocutaneous albinism 2 (oca2) gene. Quantification of oca2 mutant melanophores shows a reduction in the number of differentiated melanophores compared with wildtype siblings. Consistent with the analysis of mouse Oca2-deficient melanocytes, zebrafish mutant melanophores have immature melanosomes which are partially rescued following treatment with vacuolar-type ATPase inhibitor/cytoplasmic pH modifier, bafilomycin A1. Melanophore-specific gene expression is detected at the correct time and in anticipated locations. While oca2 zebrafish display unpigmented gaps on the head region of mutants 3 days post-fertilization, melanoblast quantification indicates that oca2 mutants have the correct number of melanoblasts, suggesting a differentiation defect explains the reduced melanophore number. Unlike melanophores, which are reduced in number in oca2 mutants, differentiated iridophores are present at significantly higher numbers. These data suggest distinct mechanisms for oca2 in establishing differentiated chromatophore number in developing zebrafish. PMID:24330346

  15. Hemophagocytic lymphohistiocytosis: pathogenesis and treatment.

    Science.gov (United States)

    Janka, Gritta E; Lehmberg, Kai

    2013-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is not an independent disease but rather a life-threatening clinical syndrome that occurs in many underlying conditions and in all age groups. HLH is the consequence of a severe, uncontrolled hyperinflammatory reaction that in most cases is triggered by an infectious agent. Persistent stimulation of lymphocytes and histiocytes results in hypercytokinemia, leading to the characteristic symptoms of HLH. Genetic defects in familial HLH and in immunodeficiency syndromes associated with albinism affect the transport, processing, and function of cytotoxic granules in natural killer cells and cytotoxic T lymphocytes. This leads to defective killing of target cells and a failure to contract the immune response. The defects are increasingly found also in adolescents and adults. Acquired HLH occurs in autoinflammatory and autoimmune diseases (macrophage activation syndrome) and in patients with iatrogenic immunosuppression or with malignancies, but also in otherwise healthy persons with infections. Treatment of HLH aims at suppressing hypercytokinemia and eliminating the activated and infected cells. In genetic HLH, hematopoietic stem cell transplantation (HSCT) is needed for the correction of the immune defect. Treatment modalities include immunosuppressive, immunomodulatory, and cytostatic drugs; T-cell antibodies; and anticytokine agents. Using immunochemotherapy, familial HLH, which had been invariably fatal, has become a curable disease with more than 50% survivors. Reduced intensity conditioning for HSCT, which is associated with less transplantation-related mortality, will further improve cure rates. PMID:24319239

  16. Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.

    Science.gov (United States)

    Bin, Bum-Ho; Bhin, Jinhyuk; Yang, Seung Ha; Shin, Misun; Nam, Yeon-Ju; Choi, Dong-Hwa; Shin, Dong Wook; Lee, Ai-Young; Hwang, Daehee; Cho, Eun-Gyung; Lee, Tae Ryong

    2015-01-01

    The SLC45A2 gene encodes a Membrane-Associated Transporter Protein (MATP). Mutations of this gene cause oculocutaneous albinism type 4 (OCA4). However, the molecular mechanism of its action in melanogenesis has not been elucidated. Here, we discuss the role of MATP in melanin production. The SLC45A2 gene is highly enriched in human melanocytes and melanoma cell lines, and its protein, MATP, is located in melanosomes. The knockdown of MATP using siRNAs reduced melanin content and tyrosinase activity without any morphological change in melanosomes or the expression of melanogenesis-related proteins. Interestingly, the knockdown of MATP significantly lowered the melanosomal pH, as verified through DAMP analysis, suggesting that MATP regulates melanosomal pH and therefore affects tyrosinase activity. Finally, we found that the reduction of tyrosinase activity associated with the knockdown of MATP was readily recovered by copper treatment in the in vitro L-DOPA oxidase activity assay of tyrosinase. Considering that copper is an important element for tyrosinase activity and that its binding to tyrosinase depends on melanosomal pH, MATP may play an important role in regulating tyrosinase activity via controlling melanosomal pH. PMID:26057890

  17. Membrane-Associated Transporter Protein (MATP Regulates Melanosomal pH and Influences Tyrosinase Activity.

    Directory of Open Access Journals (Sweden)

    Bum-Ho Bin

    Full Text Available The SLC45A2 gene encodes a Membrane-Associated Transporter Protein (MATP. Mutations of this gene cause oculocutaneous albinism type 4 (OCA4. However, the molecular mechanism of its action in melanogenesis has not been elucidated. Here, we discuss the role of MATP in melanin production. The SLC45A2 gene is highly enriched in human melanocytes and melanoma cell lines, and its protein, MATP, is located in melanosomes. The knockdown of MATP using siRNAs reduced melanin content and tyrosinase activity without any morphological change in melanosomes or the expression of melanogenesis-related proteins. Interestingly, the knockdown of MATP significantly lowered the melanosomal pH, as verified through DAMP analysis, suggesting that MATP regulates melanosomal pH and therefore affects tyrosinase activity. Finally, we found that the reduction of tyrosinase activity associated with the knockdown of MATP was readily recovered by copper treatment in the in vitro L-DOPA oxidase activity assay of tyrosinase. Considering that copper is an important element for tyrosinase activity and that its binding to tyrosinase depends on melanosomal pH, MATP may play an important role in regulating tyrosinase activity via controlling melanosomal pH.

  18. Radiosensitivity of three species of ground orchids (Spathoglottis plicata, S. kimballiana var. angustifolia and S. tomentosa) to acute gamma radiation

    International Nuclear Information System (INIS)

    A radiosensitivity study coupled with tissue culture technique was conducted as preliminary to mutation breeding of the three species of ground orchids (Spathoglottis plicata, S.kimballiana var. angustifolia, and S.tomentosa). It aimed to compare the effect of dose levels of gamma radiation applied to the germinated embryos (protocorms) of the three species. Also, it sought to determine the lethal dose and optimum dose of gamma radiation on the three species. The protocorms of the three species were irradiated at 10 Gy, 20 Gy, 30 Gy, 40 Gy, and 50 Gy dose level of gamma radiation. The three species have varied radiosensitivity as affected by their individual phenotype. Results showed that as the dose level and ministered increases, percent mortality of seedlings also increases whereas, the seedlings height, number of roots and root length decreased. However, there was an increase in the number of leaves at 10 and 20 Gy dose levels due to the emergence of furcations, but further increase in the dose levels of radiation decreased the number of leaves. Furthermore, some qualitative characters such as albinism, pigmentation, forked leaves, furcations, and multiple branching came out as responses to gamma irradiation

  19. Enhanced sensitivity to mutagens - EMS, MH, SM by pre-soaking - A taxometric study based on M1 parameters in finger millet

    International Nuclear Information System (INIS)

    Pre-soaking seeds before treatment enhances sensitivity to many chemical mutagens; but little work has been done with maleic hydrazide (MH), a chromosome breaking agent and preferential inducer of micromutation and streptomycin (SM), a cytoplasmic mutagen. In the present investigation on pre-soaking (PS) effects in finger millet (Eleusine coracana, Gaertn), we included these two mutagens, besides one commonly used mutagen, EMS to determine a common effective PS range usingM1seedling traits. Since differentM1parameters, mutagens and their doses showed different peaks of response, we adopted a taxometric approach using all characters together. Combinations of chemicals, doses and sixM1seedling attributes gave 48 characters for the numerical classification of PS periods (0, 8, 10, 12, 14, 16 and 18 h) as OTUs. Dendrogram from the similarity matrix using UPGMA clustering showed two clusters : (1) Cl. 1 of three OTUs (0, 8 and 10 h PS) and (2) Cl.2 of four OTUs(12-18h PS).We considered 12-18h as effective PS range and 0-10h as ineffective for all kinds of mutagens. The effective range would contain the major peak of sensitivity; the ineffective range might show a small peak. We confirmed these inferences with SM induced albinism as an indicator of plastid mutations. Higher doses shifted the peak within the effective range towards lower PS and low dose towards longer PS. Taxometrics could be usefully adopted in mutagenesis studies. (author)

  20. Molecular analyses of a tyrosinase-negative albino family

    Energy Technology Data Exchange (ETDEWEB)

    Park, K.C.; Chintamaneni, C.D.; Kwon, B.S. (Indiana Univ., Indianapolis (United States)); Halaban, R. (Yale Univ., New Haven, CT (United States)); Witkop, C.J. Jr. (Univ. of Minnesota, Minneapolis (United States))

    1993-02-01

    Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. One allele carried a C[r arrow]A single-base substitution in codon 355 of exon 3, and the other carried a two-nucleotide deletion in exon 1. The nucleotide substitution caused a putative amino acid change from threonine (ACA) to lysine (AAA), abolishing a signal for N-glycosylation. The two base-pair deletion caused a frameshift, creating a putative premature termination signal at codon 226. The melanocytes from the proband and her affected brother were amelanotic and devoid of measurable tyrosinase activity. Moreover, gel electrophoretic analysis of the immunoprecipitated proband tyrosinase showed that the protein was no processed to the mature glycosylated form, confirming the predicted consequence of the amino acid change. The two-base deletion on the homologous allele was detected only by sequencing genomic DNA. The transcript of this allele was not represented in the cDNA library and could not be detected by PCR mRNA, and the putative truncated protein ([approximately]25 kDa) was not present in immunoprecipitates, suggesting that the allele with the missense mutation may be preferentially expressed. 29 refs., 6 figs., 1 tab.

  1. Differential visual system organization and susceptibility to experimental models of optic neuropathies in three commonly used mouse strains.

    Science.gov (United States)

    De Groef, Lies; Dekeyster, Eline; Geeraerts, Emiel; Lefevere, Evy; Stalmans, Ingeborg; Salinas-Navarro, Manuel; Moons, Lieve

    2016-04-01

    Mouse disease models have proven indispensable in glaucoma research, yet the complexity of the vast number of models and mouse strains has also led to confusing findings. In this study, we evaluated baseline intraocular pressure, retinal histology, and retinofugal projections in three mouse strains commonly used in glaucoma research, i.e. C57Bl/6, C57Bl/6-Tyr(c), and CD-1 mice. We found that the mouse strains under study do not only display moderate variations in their intraocular pressure, retinal architecture, and retinal ganglion cell density, also the retinofugal projections to the dorsal lateral geniculate nucleus and the superior colliculus revealed striking differences, potentially underlying diverging optokinetic tracking responses and visual acuity. Next, we reviewed the success rate of three models of (glaucomatous) optic neuropathies (intravitreal N-methyl-d-aspartic acid injection, optic nerve crush, and laser photocoagulation-induced ocular hypertension), looking for differences in disease susceptibility between these mouse strains. Different genetic backgrounds and albinism led to differential susceptibility to experimentally induced retinal ganglion cell death among these three mouse strains. Overall, CD-1 mice appeared to have the highest sensitivity to retinal ganglion cell damage, while the C57Bl/6 background was more resistant in the three models used. PMID:26791081

  2. Interspecific hybridization among cultivars of hardy Hibiscus species section Muenchhusia.

    Science.gov (United States)

    Kuligowska, Katarzyna; Lütken, Henrik; Christensen, Brian; Müller, Renate

    2016-03-01

    Rose mallows belong to the Muenchhusia section of the Hibiscus genus. They represent a small group of cold tolerant North American plants and are popular ornamentals mainly because of their abundant, large and colorful flowers. Due to their geographical origin they are well suited for garden use in temperate regions worldwide. The aim of the study was to investigate hybridization barriers in crosses among cultivars of Hibiscus species from the Muenchhusia section: H. coccineus, H. laevis and H. moscheutos. Crossing barriers were identified as both pre- and post-zygotic. The analysis of pollen tube growth revealed inhibition of pollen tubes and their abnormal growth. In specific crosses the fertilization success was low. The pre-fertilization barriers did not cause a complete reproductive isolation between the hybridization partners. In relation to post-fertilization barriers, the occurrence of hybrid incompatibilities such as unviability, chlorosis, necrosis, stunted growth and albinism were the main drawback in production of hybrids. The appearance of symptoms of hybrid incompatibilities was dependent upon specific parental plants. The obtained progeny had intermediate leaf morphology and flower morphology compared to parental plants. Hybridity state was verified by morphological analysis and RAPD markers. Based on the overall plant morphology, 472 hybrid progenies were obtained. PMID:27162501

  3. The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt Stress Tolerance and Functions as a Regulator of Transcript Stabilization and Localization.

    Science.gov (United States)

    Steffens, Alexandra; Bräutigam, Andrea; Jakoby, Marc; Hülskamp, Martin

    2015-07-01

    Members of the highly conserved class of BEACH domain containing proteins (BDCPs) have been established as broad facilitators of protein-protein interactions and membrane dynamics in the context of human diseases like albinism, bleeding diathesis, impaired cellular immunity, cancer predisposition, and neurological dysfunctions. Also, the Arabidopsis thaliana BDCP SPIRRIG (SPI) is important for membrane integrity, as spi mutants exhibit split vacuoles. In this work, we report a novel molecular function of the BDCP SPI in ribonucleoprotein particle formation. We show that SPI interacts with the P-body core component DECAPPING PROTEIN 1 (DCP1), associates to mRNA processing bodies (P-bodies), and regulates their assembly upon salt stress. The finding that spi mutants exhibit salt hypersensitivity suggests that the local function of SPI at P-bodies is of biological relevance. Transcriptome-wide analysis revealed qualitative differences in the salt stress-regulated transcriptional response of Col-0 and spi. We show that SPI regulates the salt stress-dependent post-transcriptional stabilization, cytoplasmic agglomeration, and localization to P-bodies of a subset of salt stress-regulated mRNAs. Finally, we show that the PH-BEACH domains of SPI and its human homolog FAN (Factor Associated with Neutral sphingomyelinase activation) interact with DCP1 isoforms from plants, mammals, and yeast, suggesting the evolutionary conservation of an association of BDCPs and P-bodies. PMID:26133670

  4. Radiosensibility curve with 60 Co in guinea grass (Panicum maximum Jacq.) cv. 'K-249'

    International Nuclear Information System (INIS)

    In order to select the adequate radiosensibility criterion and useful dosis were studied the effects of gamma radiation on the embryogenic callus of guinea cv. K-249. The application dosages were 0, 10, 20, 40, 60, 80, 100, 150, 200, 250, 300 and 400 Gy and the measures evaluated were: increase of fresh mass of the callus in fresh medium, number of shoots, plantlets and total by callus and by gram of callus in regeneration medium. It was determined that the curves shaped with the number of shoots, plantlets and total by callus and by gram of callus were more radiosensible than that shoped with increase of fresh mass of the callus; as criterion of radiosensibility in this cultivar the total number of shoots and plantlets from gram of callus was selected for it's simplicity and veracity as much as in the evaluation and in the results. The useful dosis that determined one GR 10, 20, 50 and 70 percent were 16, 20, 29 and 160 Gy respectively. Albino shoots were also observed whose values were randomizely showed and it was observed albinism in 0 dosis. (author)

  5. Deletion of the c-kit protooncogene in the human developmental defect piebald trait

    Energy Technology Data Exchange (ETDEWEB)

    Fleischman, R.A.; Stastny, V.; Zneimer, S. (Univ. of Texas, Dallas (United States)); Saltman, D.L. (Genelabs, Inc., Redwood City, CA (United States))

    1991-12-01

    The protooncogene c-kit is critical for development of hematopoietic stem cells, germ cells, and melanoblasts in the mouse. Homozygous mutations of this gene in the mouse cause anemia, infertility, and albinism, whereas heterozygous mutant mice usually exhibit only a white forehead blaze and depigmentation of the ventral body, tail, and feet. The heterozygous mouse phenotype is very similar to human piebald trait, which is characterized by a congenital white hair forelock and ventral and extremity depigmentation. To investigate the possibility that alterations in the human c-kit gene may be a cause of piebald trait, DNA from seven unrelated affected individuals was examined by Southern blot analysis. One subject, although cytogenetically normal, has a heterozygous deletion of the c-kit protooncogene. This deletion encompasses the entire coding region for c-kit and also involves the closely linked gene for platelet-derived growth factor receptor {alpha}. These findings provide molecular evidence mapping piebald trait to the c-kit locus on chromosome 4. Although the authors cannot exclude the involvement of other closely linked genes, the demonstration of a genomic c-kit deletion in one subject with piebald trait and the marked concordance of the human and mouse phenotypes provide strong evidence for the role of c-kit in the development of human melanocytes and in the pathogenesis of piebald trait.

  6. Interactions between SNP Alleles at Multiple Loci Contribute to Skin Color Differences between Caucasoid and Mongoloid Subjects

    Directory of Open Access Journals (Sweden)

    Sumiko Anno, Takashi Abe, Takushi Yamamoto

    2008-01-01

    Full Text Available This study aimed to identify single nucleotide polymorphism (SNP alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP, tyrosinase-related protein 1 (TYRP1, tyrosinase (TYR, melanocortin 1 receptor (MC1R, oculocutaneous albinism II (OCA2, microphthalmia-associated transcription factor (MITF, and myosin VA (MYO5A. Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD. Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.

  7. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ion, A.; Telvi, L.; Galacteros, F.; McElreavey, K. [Institut Pasteur, Paris (France)] [and others

    1996-06-01

    We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the {alpha}-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of {alpha}-thalassemia in this family. In addition, the family had other clinical features not previously observed in the ATR-X syndrome, including partial optic-nerve atrophy and partial ocular albinism. Mutations in a putative DNA helicase, termed XH2, have been reported to give rise to the ATR-X syndrome. We screened the YCH2 gene for mutations in affected members of the family and identified a 4-bp deletion at an intron/exon boundary that removes an invariant 3{prime} splice-acceptor site. The mutation cosegregates with the syndrome. The genomic deletion causes missplicing of the pre-mRNA, which results in the loss of 8 bp of coding sequence, thereby generating a frameshift and a downstream premature stop codon. Our finding increases the range of clinical features associated with mutations in the XH2 gene. 17 refs., 4 figs., 2 tabs.

  8. Hypopigmentary disorders in children in South India

    Directory of Open Access Journals (Sweden)

    Tukaram Sori

    2011-01-01

    Full Text Available Background: Hypopigmentary disorders are common group of dermatoses in pediatric age group. Aim: To study the frequency and patterns of hypopigmentary disorders in children. Materials and Methods: This study was a descriptive clinical study spanning over a period of 23 months. A total of 113 children (61 boys and 52 girls were included in this study. Results: The frequency of hypopigmentary disorders among children was 3.28 per 1000 children attending the dermatology out patient department. The mean age of the children was 7.2 years. The mean of age of onset was 7.36 years. Most common hypopigmentary disorder in our study was pityriasis alba (24.7%, followed by vitiligo (20.4%, leprosy (11.5%, nevus depigmentosus (10.18%, and tinea versicolor (6.2%. Others were hypomelanosis of Ito (5, post-inflammatory hypopigmentation (5, pityriasis rosea (4, steroid-induced hypopigmentation (4, lichen sclerosus et atrophicus (3, pityriasis lichenoides chronica (3, lichen striatus (2, oculocutaneous albinism (2, tuberous sclerosis complex (2, pigmentary mosaicism (1, and Griscelli syndrome (1. Conclusion: Pityriasis alba, vitiligo, leprosy, nevus depigmentosus and tinea versicolor are the five most common hypopigmentary disorders in children.

  9. Hybridism between Biomphalaria cousini and Biomphalaria amazonica and its susceptibility to Schistosoma mansoni

    Directory of Open Access Journals (Sweden)

    Tatiana Maria Teodoro

    2011-11-01

    Full Text Available Molecular techniques can aid in the classification of Biomphalaria species because morphological differentiation between these species is difficult. Previous studies using phylogeny, morphological and molecular taxonomy showed that some populations studied were Biomphalaria cousini instead of Biomphalaria amazonica. Three different molecular profiles were observed that enabled the separation of B. amazonica from B. cousini. The third profile showed an association between the two and suggested the possibility of hybrids between them. Therefore, the aim of this work was to investigate the hybridism between B. cousini and B. amazonica and to verify if the hybrids are susceptible to Schistosoma mansoni. Crosses using the albinism factor as a genetic marker were performed, with pigmented B. cousini and albino B. amazonica snails identified by polymerase chain reaction-restriction fragment length polymorphism. This procedure was conducted using B. cousini and B. amazonica of the type locality accordingly to Paraense, 1966. In addition, susceptibility studies were performed using snails obtained from the crosses (hybrids and three S. mansoni strains (LE, SJ, AL. The crosses between B. amazonica and B. cousini confirmed the occurrence of hybrids. Moreover, hybrids can be considered potential hosts of S. mansoni because they are susceptible to LE, SJ and AL strains (4.4%, 5.6% and 2.2%, respectively. These results indicate that there is a risk of introducing schistosomiasis mansoni into new areas.

  10. Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.

    Science.gov (United States)

    Challa, Anil K; Boitet, Evan R; Turner, Ashley N; Johnson, Larry W; Kennedy, Daniel; Downs, Ethan R; Hymel, Katherine M; Gross, Alecia K; Kesterson, Robert A

    2016-01-01

    Tyrosinase is a key enzyme in melanin biosynthesis. Mutations in the gene encoding tyrosinase (Tyr) cause oculocutaneous albinism (OCA1) in humans. Alleles of the Tyr gene have been useful in studying pigment biology and coat color formation. Over 100 different Tyr alleles have been reported in mice, of which ≈24% are spontaneous mutations, ≈60% are radiation-induced, and the remaining alleles were obtained by chemical mutagenesis and gene targeting. Therefore, most mutations were random and could not be predicted a priori. Using the CRISPR-Cas9 system, we targeted two distinct regions of exon 1 to induce pigmentation changes and used an in vivo visual phenotype along with heteroduplex mobility assays (HMA) as readouts of CRISPR-Cas9 activity. Most of the mutant alleles result in complete loss of tyrosinase activity leading to an albino phenotype. In this study, we describe two novel in-frame deletion alleles of Tyr, dhoosara (Sanskrit for gray) and chandana (Sanskrit for sandalwood). These alleles are hypomorphic and show lighter pigmentation phenotypes of the body and eyes. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene. PMID:27224051

  11. Isolamento genético de populações de caramujos do gênero Biomphalaria

    Directory of Open Access Journals (Sweden)

    Aluízio Bezerra Coutinho

    1976-08-01

    Full Text Available Experiências de intrecruzamento de caramujos do gênero Biomphalaria de várias procedências de Pernambuco, Brasil, utilizando o albinismo como mercador genético mostraram que ocorre na região duas populações isoladas que não se intercruzam. Uma das populações è constituída por caramujos que podem atingir diâmetros de concha até em torno de 30 mm, enquanto que a outra atinge somente em torno de 10 mm mesmo nas melhores condições ambientais.Breending experiments with snails of the genus Biomphalaria from several beeding sites in Pernambuco, Brazil, using albinism as the genetics tag have shown that two isolated non-interbreeding populations occur in the region. One of the populations is made up of snails which consistently reached diameter sizes around 30 mm, while the other of snails reaching only around 10 mm shell diameter, even when in the best environmental conditions.

  12. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, Kazuyoshi; Oh, Jangsuk; Karim, M.A. [Univ. of Wisconsin Medical School, Madison, WI (United States)] [and others

    1996-09-01

    Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymphoma-like condition. A hallmark of the disorder is giant inclusion bodies seen in all granule-containing cells, including granulocytes, lymphocytes, melanocytes, mast cells, and neurons. Similar ultrastructural abnormalities occur in the beige mouse, which thus has been suggested to be homologous to human CHS. High-resolution genetic mapping has indicated that the bg gene region of mouse chromosome 13 is likely homologous to the distal portion of human chromosome 1q. Accordingly, we carried out homozygosity mapping using markers derived from distal human chromosome 1q in four inbred families or probands with CHS. Our results indicate that the human CHS gene maps to an 18.8-cM interval in chromosome segment 1q42-q44 and that human CHS therefore is very likely homologous to mouse bg. 43 refs., 2 figs.

  13. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2

    Energy Technology Data Exchange (ETDEWEB)

    Herrell, S.; Novo, F.J.; Charlton, R. [Univ. of Cambridge (United Kingdom)] [and others

    1995-01-20

    A total of YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above. 47 refs., 3 figs., 5 tabs.

  14. GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

    Science.gov (United States)

    Han, Ruifang; Wang, Xiaojuan; Wang, Dongjie; Wang, Liming; Yuan, Zhongfang; Ying, Ming; Li, Ningdong

    2015-01-01

    The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis. PMID:26160353

  15. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43

    Energy Technology Data Exchange (ETDEWEB)

    Barrat, F.J.; Auloge, L.; Pastural, E. [INSERM, Paris (France)] [and others

    1996-09-01

    The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a contig established by YAC end-sequence characterization and sequence-tagged site mapping. The YAC contig contains all genetic markers that are nonrecombinant for the disease in the nine CHS families studied. This mapping confirms the previous hypothesis that the same gene defect causes CHS in human and beige phenotype in mice and provides a genetic framework for the identification of candidate genes. 36 refs., 4 figs., 1 tab.

  16. Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature

    Directory of Open Access Journals (Sweden)

    Kouklakis George

    2007-12-01

    Full Text Available Abstract Introduction Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive inherited disorder consisting of a triad of albinism, increased bleeding tendency secondary to platelet dysfunction, and systemic complications associated with ceroid depositions within the reticuloendothelial system. HPS has been associated with gastrointestinal (GI complications related to chronic granulomatous colitis with pathologic features suggestive of Crohn's disease. This colitis can be severe and has been reported to be poorly responsive to medical therapies including antibiotics, corticosteroids, sulfasalazine, mesalamine and azathioprine. Case presentation We report a patient with HPS which was complicated by inflammatory bowel disease with clinical and pathologic features of Crohn's disease, refractory to antibiotics, corticosteroids and azathioprine. A trial of infliximab was attempted and repeated infusions produced a complete response. Conclusion The occurrence of ileitis and perianal lesions and also the histopathological findings in our case suggest that HPS and Crohn's disease may truly be associated. Given this similarity and the failure of the standard medical therapy of corticosteroids and azathioprine, our patient received infliximab with marked clinical improvement.

  17. Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.

    Science.gov (United States)

    Reinders, Anke; Ward, John M

    2015-07-01

    Solute carrier family 45 member 2 encodes the melanosomal membrane protein, membrane-associated transporter protein (MATP), of unknown function, that is required for normal melanin synthesis. The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations. Corresponding mutations were produced in the related and well-characterized sucrose transporter from rice, OsSUT1, and transport activity was measured by heterologous expression in Xenopus laevis oocytes, in addition to 14C-sucrose uptake in yeast. The mutation corresponding to D93N resulted in a complete loss of transport activity. The mutation corresponding to L374F resulted in a 90% decrease in transport activity, although the substrate affinity was unaffected. The results indicated that the D93N mutation causes OCA4 as a result of loss of MATP transport activity, and that the F374 allele confers significantly lower transport activity than L374. PMID:25760657

  18. BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes.

    Science.gov (United States)

    Delevoye, Cédric; Heiligenstein, Xavier; Ripoll, Léa; Gilles-Marsens, Floriane; Dennis, Megan K; Linares, Ricardo A; Derman, Laura; Gokhale, Avanti; Morel, Etienne; Faundez, Victor; Marks, Michael S; Raposo, Graça

    2016-01-11

    Recycling endosomes consist of a tubular network that emerges from vacuolar sorting endosomes and diverts cargoes toward the cell surface, the Golgi, or lysosome-related organelles. How recycling tubules are formed remains unknown. We show that recycling endosome biogenesis requires the protein complex BLOC-1. Mutations in BLOC-1 subunits underlie an inherited disorder characterized by albinism, the Hermansky-Pudlak Syndrome, and are associated with schizophrenia risk. We show here that BLOC-1 coordinates the kinesin KIF13A-dependent pulling of endosomal tubules along microtubules to the Annexin A2/actin-dependent stabilization and detachment of recycling tubules. These components cooperate to extend, stabilize and form tubular endosomal carriers that function in cargo recycling and in the biogenesis of pigment granules in melanocytic cells. By shaping recycling endosomal tubules, our data reveal that dysfunction of the BLOC-1-KIF13A-Annexin A2 molecular network underlies the pathophysiology of neurological and pigmentary disorders. PMID:26725201

  19. Lysosomal Trafficking Regulator (LYST).

    Science.gov (United States)

    Ji, Xiaojie; Chang, Bo; Naggert, Jürgen K; Nishina, Patsy M

    2016-01-01

    Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. The most striking CHS ocular pathology observed is an enlargement of melanosomes in the retinal pigment epithelium (RPE), which leads to aberrant distribution of eye pigmentation, and results in photophobia and decreased visual acuity. Understanding the molecular function of LYST and identification of its interacting partners may provide therapeutic targets for CHS and other diseases associated with the regulation of LRO size and/or vesicle trafficking, such as asthma, urticaria and Leishmania amazonensis infections. PMID:26427484

  20. Melanogenesis inhibitory effect of aerial part of Pueraria thunbergiana in vitro and in vivo.

    Science.gov (United States)

    Han, EunByeol; Chang, BoYoon; Kim, DaeSung; Cho, HyoungKwon; Kim, SungYeon

    2015-01-01

    Melanin is major factor that determines skin color as well as one of the defense systems that prevent the UV-induced damage. In case of abnormal concentration of melanin, skin diseases or problems occur such as albinism, leukoplakia, melasma, freckles, moles, and lentigo. With the lifespan of humans has been extended, importance of 'life quality' has been increased. White and clean skin is very important part of the satisfaction of appearance, especially for Asia women. The aim of this study was to find an anti-melanogenesis activity for which the aerial part of Pueraria thunbergiana can be utilized based on the increase in demands for cosmetics, particularly natural products. We demonstrated anti-pigmentation effects of aerial part of P. thunbergiana by measuring melanin content and through staining in the B16F10 melanoma cell line. The aerial part of P. thunbergiana decreased tyrosinase activity significantly in B16F10 cell cultures, while there is no direct effect on enzyme in cell-free conditions. To define the mechanisms, real-time PCR, western blot, glucosidase activity and antioxidant activity assay were implemented. As results, we demonstrated that aerial part of P. thunbergiana has anti-melanogenesis activity via two mechanisms. One is downgrading microphthalmia-associated transcription factor by activating Akt/GSK-3β. Consequently, transcription of tyrosinase and tyrosinase-related protein 1 is decreased. Another is interrupting maturation of tyrosinase through inhibiting α-glucosidase. Furthermore, aerial part of P. thunbergiana showed great efficacy on pigmentation in vivo. These results suggest that aerial part of P. thunbergiana can be used as an anti-melanogenic agent. PMID:25063049

  1. Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice.

    Science.gov (United States)

    Kook, Seunghyi; Wang, Ping; Young, Lisa R; Schwake, Michael; Saftig, Paul; Weng, Xialian; Meng, Ying; Neculai, Dante; Marks, Michael S; Gonzales, Linda; Beers, Michael F; Guttentag, Susan

    2016-04-15

    The Hermansky Pudlak syndromes (HPS) constitute a family of disorders characterized by oculocutaneous albinism and bleeding diathesis, often associated with lethal lung fibrosis. HPS results from mutations in genes of membrane trafficking complexes that facilitate delivery of cargo to lysosome-related organelles. Among the affected lysosome-related organelles are lamellar bodies (LB) within alveolar type 2 cells (AT2) in which surfactant components are assembled, modified, and stored. AT2 from HPS patients and mouse models of HPS exhibit enlarged LB with increased phospholipid content, but the mechanism underlying these defects is unknown. We now show that AT2 in the pearl mouse model of HPS type 2 lacking the adaptor protein 3 complex (AP-3) fails to accumulate the soluble enzyme peroxiredoxin 6 (PRDX6) in LB. This defect reflects impaired AP-3-dependent trafficking of PRDX6 to LB, because pearl mouse AT2 cells harbor a normal total PRDX6 content. AP-3-dependent targeting of PRDX6 to LB requires the transmembrane protein LIMP-2/SCARB2, a known AP-3-dependent cargo protein that functions as a carrier for lysosomal proteins in other cell types. Depletion of LB PRDX6 in AP-3- or LIMP-2/SCARB2-deficient mice correlates with phospholipid accumulation in lamellar bodies and with defective intraluminal degradation of LB disaturated phosphatidylcholine. Furthermore, AP-3-dependent LB targeting is facilitated by protein/protein interaction between LIMP-2/SCARB2 and PRDX6 in vitro and in vivo Our data provide the first evidence for an AP-3-dependent cargo protein required for the maturation of LB in AT2 and suggest that the loss of PRDX6 activity contributes to the pathogenic changes in LB phospholipid homeostasis found HPS2 patients. PMID:26907692

  2. A model of progressive photo-oxidative degeneration and inflammation in the pigmented C57BL/6J mouse retina.

    Science.gov (United States)

    Natoli, Riccardo; Jiao, Haihan; Barnett, Nigel L; Fernando, Nilisha; Valter, Krisztina; Provis, Jan M; Rutar, Matt

    2016-06-01

    Light-induced degeneration in rodent retinas is an established model for of retinal degeneration, including the roles of oxidative stress and neuroinflammatory activity. In these models, photoreceptor death is elicited via photo-oxidative stress, and is exacerbated by recruitment of subretinal macrophages and activation of immune pathways including complement propagation. Existing light damage models have relied heavily on albino rodents, and mostly using acute light stimuli. These albino models have proven valuable in uncovering the pathogenic mechanisms of such pathways in the context of retinal disease. However, their inherent albinism hinders comparability to normal retinal physiology, and also makes gene technology analysis time-consuming due to the predominance of the pigmented mouse strains in these applications. In this study, we characterise a new light damage model utilising C57BL/6J mice over a 7 day period of chronic light exposure. We use high-efficiency LED technology to deliver a sustained intensity of 100 k lux with negligible modulation of ambient temperature. We show that in the C57BL/6J mouse, chronic light exposure elicits the cardinal features of light damage including photoreceptor degeneration, atrophy of the choriocapillaris, decreased retinal function and increases in oxidative stress markers 4-HNE and 8-OHG, which emerge progressively over the 7 day period of exposure. These changes are accompanied by robust recruitment of IBA1+ and F4/80 + microglia/macrophages to the ONL and subretinal space, followed the strong up-regulation of monocyte-chemoattractants Ccl2, Ccl3, and Ccl12, as well as increases in expression of complement component C3. These findings are in agreement with prior damage models conducted in albino rodents such as Balb/c mice, and support the use of this new model in further investigating the causative features of oxidative stress and inflammation in retinal disease. PMID:27155143

  3. Red mangrove life history variables along latitudinal and anthropogenic stress gradients.

    Science.gov (United States)

    Proffitt, C Edward; Travis, Steven

    2014-06-01

    Mangroves migrate northward in Florida and colonize marshes historically dominated by salt marsh species. In theory, this migration should be facilitated by greater numbers of propagules stemming from increased reproductive activity and greater genetic variability caused by outcrossing. We aimed to determine if stand reproduction and % outcrossing were affected by cold stress (stress increases with latitude), anthropogenic stress (human population density as a proxy), and years since a major hurricane. Further, we wished to determine if mutation rate varied with the stressors and if that affected stand reproduction. Both coasts of Florida from the southern Florida Keys to Tampa Bay on the Gulf of Mexico coast, and Merritt Island on the Atlantic coast. We conducted field surveys of frequency of reproducing trees (104,211 trees surveyed in 102 forested stands), incidence of trees showing albinism in propagules, and% outcrossing estimated from the ratio of albino:normal propagules. Structural equation modeling (SEM) was used to test a conceptual model that served as a multivariate hypothesis. Reproductive frequencies varied by site and increased with latitude although more strongly on the Gulf coast. Our SEM results indicate that outcrossing increases in this predominately selfing species under conditions of cold and anthropogenic stress, and that this increases reproductive output in the population. Further, we find that increased mutation rates suppress stand reproductive output but there is no significant relationship between outcrossing and mutation rate. Tree size responded to stressors but did not affect stand reproduction. Reproduction increased with years since major hurricane. Potential for colonization of northern Florida salt marshes by mangroves is enhanced by increased reproductive rates that provides more propagules and outcrossing that should enhance genetic variation thereby promoting adaptation to novel environmental conditions. Natural (cold) stress

  4. Sorting and targeting of melanosomal membrane proteins: signals, pathways, and mechanisms.

    Science.gov (United States)

    Setaluri, V

    2000-06-01

    Newly synthesized melanosomal proteins, like many other cellular proteins, traverse through a series of intracellular compartments en route to melanosomes. Entry and exit of proteins through these compartments is orchestrated by cellular sorting machinery that recognize specific sorting signals. Melanosomal membrane proteins begin their intracellular journey upon co-translational importation into the endoplasmic reticulum (ER). The biosynthetic output of tyrosinase, the key melanogenic enzyme, appears to be regulated by quality-control events at the ER, the 'port of entry' to the secretory pathway. Following maturation in the ER and through the Golgi, the sorting of these proteins in the trans-Golgi network for intracellular retention and transport along endosome/lysosome pathway requires cytoplasmically exposed signals. A di-leucine motif, present in the cytoplasmic tails of most melanosomal proteins, and its interaction with adaptor protein (AP) complexes, specifically AP-3, are critical for these events. Defects in sorting signals and the cytosolic components that interact with these signals result in a number of murine coat color phenotypes and cause human pigmentary disorders. Thus, missense or frame-shift mutations that produce truncated tyrosinase lacking the melanosomal sorting signal(s) appear to be responsible for murine platinum coat color phenotypes and a proportion of human oculocutaneous albinism-1; mutations in AP-3 appear to be responsible for the mocha phenotype in mice and Hermansky-Pudlak-like syndrome in man. Additional signals and sorting steps downstream of AP-3 appear to be required for endosomal sorting and targeting proteins to melanosomes. Signals and mechanisms that sequester melanosomal proteins from endosomes/lysosomes are not understood. Potential candidates that mediate such processes include proteins encoded by lyst and pallid genes. The common occurrence of abnormalities in melanosomes in many storage-pool disorders suggests that

  5. Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.

    Science.gov (United States)

    Trask, B; van den Engh, G; Nussbaum, R; Schwartz, C; Gray, J

    1990-01-01

    Quantification of the Hoechst and chromomycin A3 fluorescence intensities of mitotic human chromosomes isolated from karyotypically normal and abnormal cells was performed with a dual beam flow cytometer. The resultant flow karyotypes contain information about the relative DNA content and base composition of chromosomes and their relative frequencies in the mitotic cell sample. The relative copy number of X and Y chromosomes was determined for 38 normal males and females and 6 cell lines with X or Y chromosome aneuploidy. Flow karyotype diagnoses corresponded with conventional cytogenetic results in all cases. We show that chromosome DNA content can be derived from peak position in Hoechst vs. chromomycin flow karyotypes. These values are linearly related to propidium iodide staining intensity as measured with flow cytometry and to the binding of gallocyanin chrome alum to phosphate groups as measured with slide-based scanning photometry. Cell lines with deleted or dicentric X chromosomes ranging in length from 0.53 to 1.95 times normal were analyzed by using flow cytometry. The measured difference in DNA content between a normal X and each of the structurally abnormal chromosomes was linearly correlated to the difference predicted from cytogenetics and/or probe analyses. Deletions of 3-5 Mb, which were at and below the detection limits of conventional cytogenetics, could be quantified by flow karyotyping in individuals with X-linked diseases such as Duchenne muscular dystrophy, choroideremia, and ocular albinism/ichthyosis. The results show that the use of flow karyotyping to quantify the size of restricted regions of the genome can complement conventional cytogenetics and other physical mapping techniques in the study of genetic disorders. PMID:2106419

  6. Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging.

    Science.gov (United States)

    Ishikawa, Akira; Sugiyama, Makoto; Hondo, Eiichi; Kinoshita, Keiji; Yamagishi, Yuki

    2015-01-01

    Oca2(p-cas) (oculocutaneous albinism II; pink-eyed dilution castaneus) is a coat color mutant gene on mouse chromosome 7 that arose spontaneously in wild Mus musculus castaneus mice. Mice homozygous for Oca2(p-cas) usually exhibit pink eyes and gray coat hair on the non-agouti genetic background, and this ordinary phenotype remains unchanged throughout life. During breeding of a mixed strain carrying this gene on the C57BL/6J background, we discovered a novel spontaneous mutation that causes darkening of the eyes and coat hair with aging. In this study, we developed a novel mouse model showing this unique phenotype. Gross observations revealed that the pink eyes and gray coat hair of the novel mutant young mice became progressively darker in color by approximately 3 months after birth. Light and transmission-electron microscopic observations revealed a marked increase in melanin pigmentation of coat hair shafts and choroid of the eye in the novel mice compared to that in the ordinary mice. Sequence analysis of Oca2(p-cas) revealed a 4.1-kb deletion involving exons 15 and 16 of its wild-type gene. However, there was no sequence difference between the two types of mutant mice. Mating experiments suggested that the novel mutant phenotype was not inherited in a simple fashion, due to incomplete penetrance. The novel spontaneous mutant mouse is the first example of progressive hair darkening animals and is an essential animal model for understanding of the regulation mechanisms of melanin biosynthesis with aging. PMID:25739360

  7. Inter-chromosomal variation in the pattern of human population genetic structure

    Directory of Open Access Journals (Sweden)

    Baye Tesfaye M

    2011-05-01

    Full Text Available Abstract Emerging technologies now make it possible to genotype hundreds of thousands of genetic variations in individuals, across the genome. The study of loci at finer scales will facilitate the understanding of genetic variation at genomic and geographic levels. We examined global and chromosomal variations across HapMap populations using 3.7 million single nucleotide polymorphisms to search for the most stratified genomic regions of human populations and linked these regions to ontological annotation and functional network analysis. To achieve this, we used five complementary statistical and genetic network procedures: principal component (PC, cluster, discriminant, fixation index (FST and network/pathway analyses. At the global level, the first two PC scores were sufficient to account for major population structure; however, chromosomal level analysis detected subtle forms of population structure within continental populations, and as many as 31 PCs were required to classify individuals into homogeneous groups. Using recommended population ancestry differentiation measures, a total of 126 regions of the genome were catalogued. Gene ontology and networks analyses revealed that these regions included the genes encoding oculocutaneous albinism II (OCA2, hect domain and RLD 2 (HERC2, ectodysplasin A receptor (EDAR and solute carrier family 45, member 2 (SLC45A2. These genes are associated with melanin production, which is involved in the development of skin and hair colour, skin cancer and eye pigmentation. We also identified the genes encoding interferon-γ (IFNG and death-associated protein kinase 1 (DAPK1, which are associated with cell death, inflammatory and immunological diseases. An in-depth understanding of these genomic regions may help to explain variations in adaptation to different environments. Our approach offers a comprehensive strategy for analysing chromosome-based population structure and differentiation, and demonstrates the

  8. A three-dimensional model of mammalian tyrosinase active site accounting for loss of function mutations.

    Science.gov (United States)

    Schweikardt, Thorsten; Olivares, Concepción; Solano, Francisco; Jaenicke, Elmar; García-Borrón, José Carlos; Decker, Heinz

    2007-10-01

    Tyrosinases are the first and rate-limiting enzymes in the synthesis of melanin pigments responsible for colouring hair, skin and eyes. Mutation of tyrosinases often decreases melanin production resulting in albinism, but the effects are not always understood at the molecular level. Homology modelling of mouse tyrosinase based on recently published crystal structures of non-mammalian tyrosinases provides an active site model accounting for loss-of-function mutations. According to the model, the copper-binding histidines are located in a helix bundle comprising four densely packed helices. A loop containing residues M374, S375 and V377 connects the CuA and CuB centres, with the peptide oxygens of M374 and V377 serving as hydrogen acceptors for the NH-groups of the imidazole rings of the copper-binding His367 and His180. Therefore, this loop is essential for the stability of the active site architecture. A double substitution (374)MS(375) --> (374)GG(375) or a single M374G mutation lead to a local perturbation of the protein matrix at the active site affecting the orientation of the H367 side chain, that may be unable to bind CuB reliably, resulting in loss of activity. The model also accounts for loss of function in two naturally occurring albino mutations, S380P and V393F. The hydroxyl group in S380 contributes to the correct orientation of M374, and the substitution of V393 for a bulkier phenylalanine sterically impedes correct side chain packing at the active site. Therefore, our model explains the mechanistic necessity for conservation of not only active site histidines but also adjacent amino acids in tyrosinase. PMID:17850513

  9. Exchangeable pulmonary water space evaluation using giant liposomes

    International Nuclear Information System (INIS)

    The present work aims to study the potential use of liposomes for the evaluation of pulmonary exchangeable water space, important parameter in some pulmonary oedema situations. This study is based upon the delivery of a diffusible water radiotracer into pulmonary capillary network, which equilibrates with interstitial water space of the lung and returns to the blood circulation. The time constant of this phenomena depends on the magnitude of the water space under study. The release of the diffusible radiotracer in lung capillaries is performed using liposomes with specific formulation. The giant liposomes (15-30μm diameter) used in this study are instable at 37 deg. C. They are biocompatible, biodegradable, with low toxicity and showed no immunogenicity. A water tracer labelled with 99mTc, encapsulated in the aqueous phase of giant liposomes, has been used. Liposomes were prepared in sterile conditions and with apyrogenic materials. The lipid films composition is L-α-diestearoylphosphatidylcholine (DSPC), L-α-phosphatidyl-DL-glycerol (EPG) and cholesterol (CHOL) (60%/10%/30% mass ratio). After iv injection at +-20 deg. C in the femoral vein of Wistar rats (300g-600g) or albine rabbits (4.5-5Kg), the thermolabile liposomes will be entrapped in lung capillaries and release the radiotracer locally. When the radiodrug is diffusible we will evaluate the volume of the exchangeable pulmonary water analyzing the activity/time curves. These curves are slower for greater water spaces. When the radiotracer is non-diffusible, the disappearance curves are not influenced by the extravascular water space. (author)

  10. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4 phenotype

    Directory of Open Access Journals (Sweden)

    Fernandez Bridget A

    2012-11-01

    Full Text Available Abstract Background Severe congenital neutropenia type 4 (SCN4 is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3. Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4 is caused by autosomal recessive mutations in SLC45A2. Methods We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

  11. Enrichment and analysis of secretory lysosomes from lymphocyte populations

    Directory of Open Access Journals (Sweden)

    Leippe Matthias

    2009-07-01

    Full Text Available Abstract Background In specialized cells, such as mast cells, macrophages, T lymphocytes and Natural Killer cells in the immune system and for instance melanocytes in the skin, secretory lysosomes (SL have evolved as bifunctional organelles that combine degradative and secretory properties. Mutations in lysosomal storage, transport or sorting molecules are associated with severe immunodeficiencies, autoimmunity and (partial albinism. In order to analyze the function and content of secretory lysosomes in different cell populations, an efficient enrichment of these organelles is mandatory. Results Based on a combination of differential and density gradient centrifugation steps, we provide a protocol to enrich intact SL from expanded hematopoietic cells, here T lymphocytes and Natural Killer cells. Individual fractions were initially characterized by Western blotting using antibodies against an array of marker proteins for intracellular compartments. As indicated by the presence of LAMP-3 (CD63 and FasL (CD178, we obtained a selective enrichment of SL in one of the resulting organelle fractions. The robustness and reproducibility of the applied separation protocol was examined by a high-resolution proteome analysis of individual SL preparations of different donors by 2D difference gel electrophoresis (2D-DIGE. Conclusion The provided protocol is readily applicable to enrich and isolate intact secretory vesicles from individual cell populations. It can be used to compare SL of normal and transformed cell lines or primary cell populations from healthy donors and patients with lysosomal storage or transport diseases, or from corresponding mutant mice. A subsequent proteome analysis allows the characterization of molecules involved in lysosomal maturation and cytotoxic effector function at high-resolution.

  12. Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.

    Science.gov (United States)

    Graf, Justin; Voisey, Joanne; Hughes, Ian; van Daal, Angela

    2007-07-01

    Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins. Recently, pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to have a role in normal pigmentation variation. We previously reported significant associations of two coding region polymorphisms with hair, skin, and eye color in Caucasians. Here we characterize the promoter region of MATP identifying two new transcription start sites and a novel duplication (c.-1176_-1174dupAAT). A total of 700 individuals from five different population groups (529 Caucasians, 38 Asians, 46 African Americans, 47 Australian Aborigines, and 40 Spanish Basques) were genotyped for known promoter polymorphisms c.-1721C>G (rs13289) and c.-1169G>A (rs6867641), as well as c.-1176_-1174dupAAT. Allele frequencies of all three polymorphisms were significantly different between population groups. In Caucasians, the -1721G, +dup, and -1169A alleles were significantly associated with olive skin color. The three promoter polymorphisms were found to be in linkage disequilibrium with each other but not with the two previously reported coding region polymorphisms. Functional analyses in a melanoma cell line showed that the promoter haplotype -1721G, +dup, -1169A significantly decreased MATP transcription. This report provides further evidence for the involvement of MATP in normal pigmentation variation by identifying associations between MATP alleles and skin color variation in Caucasians and demonstrating a functional significance of these polymorphisms. PMID:17358008

  13. Mutation breeding in Philippine Spathoglottis orchids

    International Nuclear Information System (INIS)

    Attempts to create genetic variability in Spathoglottis kimballiana var. angustifolia by mutation induction using the chemical mutagen colchicine was not successful. On the other hand, the physical mutagen gamma rays resulted in changes in morphological characteristics on flowering plants that had been subjected to 10 Gy acute radiation at protocorm stage. Most prominent are purple pigmentation on the flower stalk, shorter internodes or distance between flowers, thicker substance of individual flowers and wider or stouter leaves. The most desirable selection was successfully used as a female parent in breeding of Spathoglottis 'Lion of Singapore.' The characteristics of the hybrid produced were entirely different from those developed and registered by the Singapore Botanic Gardens. Radiosensitivity studies on this native species as well as Spathoglottis plicata, S. tomentosa and S. vanoverberghii showed that survival of irradiated protocorms decreased with increasing dose from 0 to 50 Gy. The average height of seedlings and length of longest root were significantly affected by gamma radiation. Several qualitative characteristics considered as results of mutations are lack of pigments or albinism, purple pigmentation on leaves, forked leaves, split seedlings or furcation, and multiple branching. However, majority of the putative mutant seedlings did not survive outside the culture vessel or reverted back to normal after growing under ambient conditions. Lethal dose after removal from culture vessel was found to be 20 Gy. For Spathoglottis plicata, embryos within the irradiated fruits produced by artificial self-pollination of flowers did not germinate when subjected to 30 Gy and higher dose levels of acute gamma rays. Meanwhile, 10 Gy of gamma radiation enhanced both shoot growth and root elongation as compared to the control and those at 20 Gy. (author)

  14. Simple generation of albino C57BL/6J mice with G291T mutation in the tyrosinase gene by the CRISPR/Cas9 system.

    Science.gov (United States)

    Mizuno, Seiya; Dinh, Tra Thi Huong; Kato, Kanako; Mizuno-Iijima, Saori; Tanimoto, Yoko; Daitoku, Yoko; Hoshino, Yoshikazu; Ikawa, Masahito; Takahashi, Satoru; Sugiyama, Fumihiro; Yagami, Ken-ichi

    2014-08-01

    Single nucleotide mutations (SNMs) are associated with a variety of human diseases. The CRISPR/Cas9 genome-editing system is expected to be useful as a genetic modification method for production of SNM-induced mice. To investigate whether SNM-induced mice can be generated by zygote microinjection of CRISPR/Cas9 vector and single-stranded DNA (ssDNA) donor, we attempted to produce albino C57BL/6J mice carrying the Tyr gene SNM (G291T) from pigmented C57BL/6J zygotes. We first designed and constructed a CRISPR/Cas9 expression vector for the Tyr gene (px330-Tyr-M). DNA cleavage activity of px330-Tyr-M at the target site of the Tyr gene was confirmed by the EGxxFP system. We also designed an ssDNA donor for homology-directed repair (HDR)-mediated gene modification. The px330-Tyr-M vector and ssDNA donor were co-microinjected into the pronuclei of 224 one-cell-stage embryos derived from C57BL/6J mice. We obtained 60 neonates, 28 of which showed the ocular albinism and absence of coat pigmentation. Genomic sequencing analysis of the albino mice revealed that the target of SNM, G291T in the Tyr gene, occurred in 11 mice and one founder was homozygously mutated. The remaining albino founders without Tyr G291T mutation also possessed biallelic deletion and insertion mutants adjacent to the target site in the Tyr locus. Simple production of albino C57BL/6J mice was provided by C57BL/6J zygote microinjection with px330-Tyr-M DNA vector and mutant ssDNA (G291T in Tyr) donor. A combination of CRISPR/Cas9 vector and optional mutant ssDNA could be expected to efficiently produce novel SNM-induced mouse models for investigating human diseases. PMID:24879364

  15. Mutations in a plastid-localized elongation factor G alter early stages of plastid development in Arabidopsis thaliana

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    Hangarter Roger P

    2007-07-01

    Full Text Available Abstract Background Proper development of plastids in embryo and seedling tissues is critical for plant development. During germination, plastids develop to perform many critical functions that are necessary to establish the seedling for further growth. A growing body of work has demonstrated that components of the plastid transcription and translation machinery must be present and functional to establish the organelle upon germination. Results We have identified Arabidopsis thaliana mutants in a gene that encodes a plastid-targeted elongation factor G (SCO1 that is essential for plastid development during embryogenesis since two T-DNA insertion mutations in the coding sequence (sco1-2 and sco1-3 result in an embryo-lethal phenotype. In addition, a point mutation allele (sco1-1 and an allele with a T-DNA insertion in the promoter (sco1-4 of SCO1 display conditional seedling-lethal phenotypes. Seedlings of these alleles exhibit cotyledon and hypocotyl albinism due to improper chloroplast development, and normally die shortly after germination. However, when germinated on media supplemented with sucrose, the mutant plants can produce photosynthetically-active green leaves from the apical meristem. Conclusion The developmental stage-specific phenotype of the conditional-lethal sco1 alleles reveals differences in chloroplast formation during seedling germination compared to chloroplast differentiation in cells derived from the shoot apical meristem. Our identification of embryo-lethal mutant alleles in the Arabidopsis elongation factor G indicates that SCO1 is essential for plant growth, consistent with its predicted role in chloroplast protein translation.

  16. Residential mobility among foreign-born persons living in Sweden is associated with lower mortality

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    Björn Albin

    2010-07-01

    Full Text Available Björn Albin1,2, Katarina Hjelm1,2, Jan Ekberg3, Sölve Elmståhl41School of Health and Caring Sciences, Linnaeus University, Växjö, Sweden; 2Department of Health Sciences, Division of Geriatric Medicine, Lund University, Sweden; 3Centre of Labour Market Policy Research (CAFO, School of Management and Economics, Växjö University, Sweden; 4Department of Health Sciences, Division of Geriatric Medicine, Lund University, SwedenAbstract: There have been few longitudinal studies on the effect of within-country mobility on patterns of mortality in deceased foreign-born individuals. The results have varied; some studies have found that individuals who move around within the same country have better health status than those who do not change their place of residence. Other studies have shown that changing one’s place of residence leads to more self-reported health problems and diseases. Our aim was to analyze the pattern of mortality in deceased foreign-born persons living in Sweden during the years 1970–1999 in relation to distance mobility. Data from Statistics Sweden and the National Board of Health and Welfare was used, and the study population consisted of 281,412 ­foreign-born persons aged 16 years and over who were registered as living in Sweden in 1970. Distance mobility did not have a negative effect on health. Total mortality was lower (OR 0.71; 95% CI 0.69–0.73 in foreign-born persons in Sweden who had changed their county of residence during the period 1970–1990. Higher death rates were observed, after adjustment for age, in three ICD diagnosis groups “Injury and poisoning”, “External causes of injury and poisoning”, and “Diseases of the digestive system” among persons who had changed county of residence.Keywords: residential mobility, health, foreign-born, immigrant, Sweden, mortality

  17. Visual function of Egyptian children with low vision and the demographic determinants

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    El Byoumi Boshra

    2010-01-01

    Full Text Available Aims: To determine whether the LV Prasad-Functional Vision Questionnaire (LVP-FVQ could be used to assess self-reported visual function and quality of visual life in Egyptian school aged children. Materials and Methods: The LVP-FVQ was used to assess the quality of visual function in school-age children. All subjects were students at the time of assessment. Subjects underwent a visual function assessment that included distance and near visual acuity, contrast sensitivity, color vision and visual field examination where possible. Data analysis were for both descriptive and inference statistics. A P < 0.05 was considered statistically significant. Results: Fifty children aged 11.28 ± 3.5 years (range, 5 years to 18 years with moderate-to-severe visual impairment most of their lives were enrolled. Twenty-two subjects (44% had albinism, 18 (36% subjects had hereditary retinal dystrophy, 6 (12% subjects had cone dystrophy, 2 (4% subjects had bilateral amblyopia and 2 (4% subjects had congenital coloboma without other disabilities. The four most difficult tasks were related to the following daily activities alluded to in the questionnaire such as reading a textbook at arms length, copying from the blackboard, seeing somebody across the road and identifying colors. There was no statistically significant association between the demographic variables and the level of visual functioning, sex, age, type of school, family history or consanguinity (P > 0.05 for all variables. Conclusion: LVP-FVQ can be used to screen Egyptian children with visual impairment. Input and integration of the parents and the school teachers to evaluate the child s behavior at home and the school is essential to developing a balanced questionnaire.

  18. Evaluation of anti-parkinson’s activity of gentisic acid in different animal models

    Institute of Scientific and Technical Information of China (English)

    Kabra MP; Bhandari SS; Sharma A; Gupta RB

    2014-01-01

    Objective:To evaluate the neuroprotective activity ofGentisic acid inPD.The study was conducted on swiss albinFo mice(20-25 g) & wistar rats(200-250 g).Methods:Three behavioural models namely,Haloperidol induced catalepsy,Reserpine antagonism andHaloperidol induce orofacial dyskinesia were employed in this study,SwissAlbino mice(20-25 g) were used in first two models whileWistar rats(200-250 g) used in last one model.There are five group(n=6) in each animal model.Various behavior activity/parameter(cataleptic behavior, horizontal movements, rearing & grooming frequencies andDyskinesia activity like vacuous chewing & tongue protrusion) in different animal models were used to evaluate the anti-Parkinson’s activity ofGentisic acid.Results:Gentisic acid showed a significant(P<0.01) reduction in the duration of cataleptic behavior dose dependently when compared to haloperidol control group.Gentisic acid shows dose dependant increase in the frequency of horizontal movement and rearing behavior when compared to theReserpine control group.But, the effect ofGentisic acid on the frequency of grooming behavior was found to be insignificant.Gentisic acid(80 mg/kg) showed a significant (P<0.05) decrease in the frequency of vacuous chewing & tongue protrusion but the other dose tested were found to be insignificant in this respect.Conclusions:Results shows that the Gentisic acid produced dose dependent neuroprotective activity in different animal models ofPD.

  19. Deep sequencing of the small RNAs derived from two symptomatic variants of a chloroplastic viroid: implications for their genesis and for pathogenesis.

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    Francesco Di Serio

    Full Text Available Northern-blot hybridization and low-scale sequencing have revealed that plants infected by viroids, non-protein-coding RNA replicons, accumulate 21-24 nt viroid-derived small RNAs (vd-sRNAs similar to the small interfering RNAs, the hallmarks of RNA silencing. These results strongly support that viroids are elicitors and targets of the RNA silencing machinery of their hosts. Low-scale sequencing, however, retrieves partial datasets and may lead to biased interpretations. To overcome this restraint we have examined by deep sequencing (Solexa-Illumina and computational approaches the vd-sRNAs accumulating in GF-305 peach seedlings infected by two molecular variants of Peach latent mosaic viroid (PLMVd inciting peach calico (albinism and peach mosaic. Our results show in both samples multiple PLMVd-sRNAs, with prevalent 21-nt (+ and (- RNAs presenting a biased distribution of their 5' nucleotide, and adopting a hotspot profile along the genomic (+ and (- RNAs. Dicer-like 4 and 2 (DCL4 and DCL2, respectively, which act hierarchically in antiviral defense, likely also mediate the genesis of the 21- and 22-nt PLMVd-sRNAs. More specifically, because PLMVd replicates in plastids wherein RNA silencing has not been reported, DCL4 and DCL2 should dice the PLMVd genomic RNAs during their cytoplasmic movement or the PLMVd-dsRNAs generated by a cytoplasmic RNA-dependent RNA polymerase (RDR, like RDR6, acting in concert with DCL4 processing. Furthermore, given that vd-sRNAs derived from the 12-14-nt insertion containing the pathogenicity determinant of peach calico are underrepresented, it is unlikely that symptoms may result from the accidental targeting of host mRNAs by vd-sRNAs from this determinant guiding the RNA silencing machinery.

  20. Nystagmus in childhood.

    Science.gov (United States)

    Papageorgiou, Eleni; McLean, Rebecca J; Gottlob, Irene

    2014-10-01

    Nystagmus is an involuntary rhythmic oscillation of the eyes, which leads to reduced visual acuity due to the excessive motion of images on the retina. Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. IN can be idiopathic or associated to albinism, retinal disease, low vision, or visual deprivation in early life, for example due to congenital cataracts, optic nerve hypoplasia, and retinal dystrophies, or it can be part of neurological syndromes and neurologic diseases. It is important to differentiate between infantile and acquired nystagmus. This can be achieved by considering not only the time of onset of the nystagmus, but also the waveform characteristics of the nystagmus. Neurological disease should be suspected when the nystagmus is asymmetrical or unilateral. Electrophysiology, laboratory tests, neurological, and imaging work-up may be necessary, in order to exclude any underlying ocular or systemic pathology in a child with nystagmus. Furthermore, the recent introduction of hand-held spectral domain optical coherence tomography (HH SD-OCT) provides detailed assessment of foveal structure in several pediatric eye conditions associated with nystagmus and it can been used to determine the underlying cause of infantile nystagmus. Additionally, the development of novel methods to record eye movements can help to obtain more detailed information and assist the diagnosis. Recent advances in the field of genetics have identified the FRMD7 gene as the major cause of hereditary X-linked nystagmus, which will possibly guide research towards gene therapy in the future. Treatment options for nystagmus involve pharmacological and surgical interventions. Clinically proven pharmacological treatments for nystagmus, such as gabapentin and memantine, are now beginning to emerge. In cases of obvious head posture, eye muscle surgery can be performed to shift the null

  1. Dermatologic Diseases Presenting with Pigmentation Disorders in Children: A Single Center Experience

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    Ayse Akbas

    2015-12-01

    Full Text Available Background: To determine the incidence and demographic characteristics of skin diseases presenting with hyperpigmentation in children applying to the dermatology department. Methods: A total of 2815 children between the ages of 0 to 16 who applied to the dermatology clinic with the complaints of hyperpigmentation disorders were evaluated. The age, gender, socioeconomic status, place of residence and demographic characteristics of children with abnormal pigmentation skin lesions were investigated. Results: A total of 2815 children applied to the dermatology clinic during the study period. Of these patients 1491 were female (53% and 1324 were male (47%. Of these 266 (9.4% were diagnosed with skin disorders presenting with hyperpigmention. The causes of hyperpigmentation in these patients were was follows; pityriasis alba (2.6%, melanocytic nevus (2.1%, vitiligo (1.8% postinflammatory hyperpigmentation (0.5%, and postinflammatory hypopigmentation (0.5%. According to the gender, p.alba, vitiligo, Becker nevus, acanthosis nigricans, tuberosclerosis and albinism were seen more in boys and nevus depigmentosus ephelis, postinflammatory hyperpigmentation/hypopigmentation and melanocytic nevus were seen more in the girls. Pitriyazis versicolor was seen equally in both genders. According to age groups, melanocytis nevus were found to be more frequent between the ages of 0-2 and 12-16, whereas pityrsasis versicolor was more frequent in ages 12-16 and P. alba in the 3-11 age group. Conclusions: There are quite a substantial number of pigmentation diseases occurring in children. Early diagnosis and treatment are important because although these diseases mainly cause cosmetic problems, they can decrease the quality of life. Here, we attempted to define the demographic characteristics of diseases presenting with disorders in pigmentation in children.

  2. Physiological and biochemical responses and microscopic structure changes of Populus tomentosa Carr seedlings to 4-BDE exposure.

    Science.gov (United States)

    Cai, Man; Li, Yuling; Li, Yanling; Du, Kejiu

    2015-09-01

    Populus species are very effective in remediation of contaminants. Polybrominated diphenyl ethers (PBDEs) are commonly used as flame retardants and are known to be persistent environmental pollutants. Numerous studies have shown that PBDEs are rising in human tissues and biota. 4-Monobrominated diphenyl ether (4-BDE), one of the less brominated PBDEs, was served as a model compound for biodegradation of lower brominated congeners. The present study was designed to clarify the effects of 4-BDE stress on morphological, physiological, and biochemical impacts of Populus tomentosa Carr in a tissue culture condition. Different concentrations of 4-BDE (3 and 30 mg L(-1)) were supplied alone or together with 0.5 mg L(-1) IBA in tissue culture media. With the concentration increased, 4-BDE caused negative effects on the microscopic structure of roots, stem, and leaves. The leaf color became shallow in low concentration of 4-BDE treatments and appeared albinism with 4-BDE concentration increased. The chlorophyll content and the leaf mass per area of albino leaves reduced significantly. 4-BDE also caused positive effects on the adventitious root differentiation and the biomass below 30 mg L(-1). With the 4-BDE treatment time increased (23, 47, and 58 days), the peroxidase (POD) activity displayed the decreasing trend. The proline content decreased first and then increased. Exposure to 4-BDE induced the malondialdehyde (MDA) to increase in leaves. Application of 4-BDE affected the endogenous hormone levels of cuttings in their adventitious roots inducing media. Below 0.3 mg L(-1), 4-BDE caused the faint expression of auxin-sensitive DR5::GUS reporter gene in Arabidopsis thaliana. Additionally, P. tomentosa Carr exhibited the better tolerance against 4-BDE in the range of less than 30 mg L(-1). PMID:25971809

  3. Radiosensitivity of three species of ground orchids (Spathoglottis plicata, S. kimballiana var. angustifolia and S. tomentosa) to acute gamma radiation

    International Nuclear Information System (INIS)

    A radiosensitivity study coupled with tissue culture technique was conducted as preliminary to mutation breeding of the three species of ground orchids (Spathoglottis plicata, S. kimballiana var. angustifolia, and S. tomentosa). It aimed to compare the effects of varying dose levels of gamma radiation applied to the germinated embryos (protocorms) of the three species. Also it sought to determine the lethal dose of gamma radiation on the three species and to determine their optimum dose or the dose level that will lead to production of more mutants. The protocorms of the three species were irradiated at 10 Gy, 20 Gy, 30 Gy, 40 Gy, and 50 Gy dose levels of gamma radiation. Results of the study showed that as the dose level administered increases, percent mortality of seedlings also increases. Further, seedling height, number of roots and root length decreases. However, there was an increase in number of leaves at certain dose levels due to the emergence of furcations, but further increase in the dose levels of radiation decreases the number of leaves.Furthermore, some qualitative characters such as albinism, pigmentation, forked leaves, furcations, and multiple branching came out as responses to gamma radiation. It further shows that the three species have varied radiosensitivity as affected by their individual phenotype. It was found that S. kimballiana var. angustifolia was the least radiosensitive among the species, and could have a great potential for a wide array of genetic variations due to the observed emergence of more morphological mutations that came out as effect of gamma radiation. (Author)

  4. Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene

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    Huxley Clare

    2001-02-01

    Full Text Available Abstract Background Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism with severe immunodeficiency. Rab27a plays a key role in the function of lysosomal-like organelles such as melanosomes in melanocytes and lytic granules in cytotoxic T lymphocytes. Little is known about Rab27b. Results The human RAB27B gene is organised in six exons, spanning about 69 kb in the chromosome 18q21.1 region. Exon 1 is non-coding and is separated from the others by 49 kb of DNA and exon 6 contains a long 3' untranslated sequence (6.4 kb. The mouse Rab27b cDNA shows 95% identity with the human cDNA at the protein level and maps to mouse chromosome 18. The mouse mRNA was detected in stomach, large intestine, spleen and eye by RT-PCR, and in heart, brain, spleen and kidney by Northern blot. Transient over-expression of EGF-Rab27b fusion protein in cultured melanocytes revealed that Rab27b is associated with melanosomes, as observed for EGF-Rab27a. Conclusions Our results indicate that the Rab27 subfamily of Ras-like GTPases is highly conserved in mammals. There is high degree of conservation in sequence and gene structure between RAB27A and RAB27B genes. Exogenous expression of Rab27b in melanocytes results in melanosomal association as observed for Rab27a, suggesting the two Rab27 proteins are functional homologues. As with RAB27A in Griscelli Disease, RAB27B may be also associated with human disease mapping to chromosome 18.

  5. Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings.

    Science.gov (United States)

    Prins, Doety; Hanekamp, Sandra; Cornelissen, Frans W

    2016-03-01

    Many eye diseases reduce visual acuity or are associated with visual field defects. Because of the well-defined retinotopic organization of the connections of the visual pathways, this may affect specific parts of the visual pathways and cortex, as a result of either deprivation or transsynaptic degeneration. For this reason, over the past several years, numerous structural magnetic resonance imaging (MRI) studies have examined the association of eye diseases with pathway and brain changes. Here, we review structural MRI studies performed in human patients with the eye diseases albinism, amblyopia, hereditary retinal dystrophies, age-related macular degeneration (AMD) and glaucoma. We focus on two main questions. First, what have these studies revealed? Second, what is the potential clinical relevance of their findings? We find that all the aforementioned eye diseases are indeed associated with structural changes in the visual pathways and brain. As such changes have been described in very different eye diseases, in our view the most parsimonious explanation is that these are caused by the loss of visual input and the subsequent deprivation of the visual pathways and brain regions, rather than by transsynaptic degeneration. Moreover, and of clinical relevance, for some of the diseases - in particular glaucoma and AMD - present results are compatible with the view that the eye disease is part of a more general neurological or neurodegenerative disorder that also affects the brain. Finally, establishing structural changes of the visual pathways has been relevant in the context of new therapeutic strategies to restore retinal function: it implies that restoring retinal function may not suffice to also effectively restore vision. Future structural MRI studies can contribute to (i) further establish relationships between ocular and neurological neurodegenerative disorders, (ii) investigate whether brain degeneration in eye diseases is reversible, (iii) evaluate the use

  6. Estimates of linkage disequilibrium and effective population size in rainbow trout

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    Vallejo Roger L

    2009-12-01

    Full Text Available Abstract Background The use of molecular genetic technologies for broodstock management and selective breeding of aquaculture species is becoming increasingly more common with the continued development of genome tools and reagents. Several laboratories have produced genetic maps for rainbow trout to aid in the identification of loci affecting phenotypes of interest. These maps have resulted in the identification of many quantitative/qualitative trait loci affecting phenotypic variation in traits associated with albinism, disease resistance, temperature tolerance, sex determination, embryonic development rate, spawning date, condition factor and growth. Unfortunately, the elucidation of the precise allelic variation and/or genes underlying phenotypic diversity has yet to be achieved in this species having low marker densities and lacking a whole genome reference sequence. Experimental designs which integrate segregation analyses with linkage disequilibrium (LD approaches facilitate the discovery of genes affecting important traits. To date the extent of LD has been characterized for humans and several agriculturally important livestock species but not for rainbow trout. Results We observed that the level of LD between syntenic loci decayed rapidly at distances greater than 2 cM which is similar to observations of LD in other agriculturally important species including cattle, sheep, pigs and chickens. However, in some cases significant LD was also observed up to 50 cM. Our estimate of effective population size based on genome wide estimates of LD for the NCCCWA broodstock population was 145, indicating that this population will respond well to high selection intensity. However, the range of effective population size based on individual chromosomes was 75.51 - 203.35, possibly indicating that suites of genes on each chromosome are disproportionately under selection pressures. Conclusions Our results indicate that large numbers of markers, more than

  7. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

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    Gahl William A

    2005-09-01

    Full Text Available Abstract Background Hermansky-Pudlak syndrome (HPS is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings reflect defects in the formation of melanosomes in melanocytes and dense bodies in platelets. HPS type-3 (HPS-3 results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE at residues 172–176. Results Clathrin was co-immunoprecipitated by HPS3 antibodies from normal but not HPS3 null melanocytes. Normal melanocytes expressing a GFP-HPS3 fusion protein demonstrated partial co-localization of GFP-HPS3 with clathrin following a 20°C temperature block. GFP-HPS3 in which the predicted clathrin-binding domain of HPS3 was mutated (GFP-HPS3-delCBD did not co-localize with clathrin under the same conditions. Immunoelectron microscopy of normal melanocytes expressing GFP-HPS3 showed co-localization of GFP-HPS3 with clathrin, predominantly on small vesicles in the perinuclear region. In contrast, GFP-HPS3-delCBD did not co-localize with clathrin and exhibited a largely cytoplasmic distribution. Conclusion HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3. These results suggest a role for HPS3 and its protein complex, BLOC-2, in vesicle formation and trafficking.

  8. Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: Is there a role for the P gene?

    Energy Technology Data Exchange (ETDEWEB)

    Pellegrino, J.E.; Schnur, R.E.; Kline, R. [Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Hypomelanosis of Ito (HMI) is a heterogeneous and clinically variable disorder characterized by specific patterns of hypopigmentation on the limbs and trunk. Many different mosaic chromosomal abnormalities have been reported with this condition leading to the hypothesis that HMI may be a non-specific marker of chromosome mosaicism. We studied a patient with dysmorphia, mental retardation, behavioral disturbances and HMI. Cytogenetic analysis demonstrated that he was mosaic for an unbalanced translocation, 45,XY,-7,-15,+der(7)t(7;15)(q34;q13)/46,XY in both blood and skin rendering him monosomic for 7q34 to qter and 15pter to q13 in the cells containing the translocation. The human homologue (P) of the p gene, the product of the mouse pink-eyed dilution locus, maps to 15q11q13. Loss of this locus is believed to be the cause of the hypopigmentation seen in patients with deletions of 15q11q13 and the Prader-Willi and Angelman syndromes. Mutations within the P gene have also been associated with tyrosinase positive (type II) oculocutaneous albinism. By fluorescence in situ hybridization we demonstrated that our patient is deleted for one copy of the P gene in the cells with the unbalanced translocation as well as for two probes from the Prader-Willi/Angelman critical region. The myl gene, which maps to 15q22, was present on the translocated chromosome as expected. There is a previous report in the literature of an HMI patient who was mosaic for del(15)(q11), although the copy number of the P gene was not specifically determined. Although hypomelanosis of Ito is a heterogeneous disorder, we postulate that in our case, and potentially in others, this phenotype may result from loss of a specific pigmentation gene.

  9. Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

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    Kashima T

    2011-12-01

    the authors’ knowledge, this is the first case report of a patient with Waardenburg syndrome and diabetic retinopathy.Keywords: asymmetry, diabetic retinopathy, Waardenburg syndrome, albinism, hypopigmentation

  10. BIOLOGICAL SAFETY EVALUATION OF CHITOSAN ANTIBACTERIAL SPRAY%一种壳聚糖抗菌喷膜剂的生物安全性评价

    Institute of Scientific and Technical Information of China (English)

    杨美玲; 张紫虹; 刘宇; 古梅英; 王凤岩

    2012-01-01

    目的 了解一种壳聚糖抗菌喷膜剂的毒性及生物相容性.方法 通过动物实验和细胞毒性试验方法,对该制剂的生物安全性进行了评价.结果 该壳聚糖制剂为一种抗菌喷膜制剂,其有效成分为含质量分数1%壳聚糖.该抗菌喷膜对体外培养的L -929细胞形态无明显影响,对细胞生长和增殖无明显抑制作用,细胞毒性均为0级.在新西兰家兔的阴道使用该抗菌喷膜黏膜后发现黏膜有轻微充血,组织病理学观察到血管充血程度较强,刺激指数为1.44,属极轻刺激性.该抗菌喷膜对豚鼠完整皮肤无致红斑和水肿反应,属不致敏级.结论 该抗菌喷膜无体外细胞毒作用,对试验动物完整皮肤无致敏性,但对动物阴道黏膜有极轻度刺激性,具有较好的生物安全性.%Objective To understand the toxicity and biocompatibiliry of chitosan antibacterial spray in order to assess its safety. Methods Animal test and cytotoxicity test in vitro were performed to evaluate the biological safety of this biological disinfectant. Results Chitosan antibacterial spray containing 1 % chitosan had no significant effect on the L - 929 cell morphology and had no significant inhibition on cell growth and proliferation; The cytotoxicity gradation was 0 degree in various concentration of leaching liquors of test materials. Mild irritation was found in vaginal mucosa of rabbit, vas congestion was found in pathological test and irritation index was 1.44 which belonged to mild irritation grade. No skin erythema and edema was found in albinism animal test, which belonged to no - hypersensitivity. Conclusion This chitosan antibacterial spray used for mucosa has mild stimulation, good biocompatibility and biological safety.

  11. Effects of aluminum sulfate on delta-aminolevulinate dehydratase from kidney, brain, and liver of adult mice

    Directory of Open Access Journals (Sweden)

    Schetinger M.R.C.

    1999-01-01

    Full Text Available The purpose of the present study was to investigate the in vitro and in vivo effects of aluminum sulfate on delta-aminolevulinic acid dehydratase (ALA-D activity from the brain, liver and kidney of adult mice (Swiss albine. In vitro experiments showed that the aluminum sulfate concentration needed to inhibit the enzyme activity was 1.0-5.0 mM (N = 3 in brain, 4.0-5.0 mM (N = 3 in liver and 0.0-5.0 mM (N = 3 in kidney. The in vivo experiments were performed on three groups for one month: 1 control animals (N = 8; 2 animals treated with 1 g% (34 mM sodium citrate (N = 8 and 3 animals treated with 1 g% (34 mM sodium citrate plus 3.3 g% (49.5 mM aluminum sulfate (N = 8. Exposure to aluminum sulfate in drinking water inhibited ALA-D activity in kidney (23.3 ± 3.7%, mean ± SEM, P<0.05 compared to control, but enhanced it in liver (31.2 ± 15.0%, mean ± SEM, P<0.05. The concentrations of aluminum in the brain, liver and kidney of adult mice were determined by graphite furnace atomic absorption spectrometry. The aluminum concentrations increased significantly in the liver (527 ± 3.9%, mean ± SEM, P<0.05 and kidney (283 ± 1.7%, mean ± SEM, P<0.05 but did not change in the brain of aluminum-exposed mice. One of the most important and striking observations was the increase in hepatic aluminum concentration in the mice treated only with 1 g% sodium citrate (34 mM (217 ± 1.5%, mean ± SEM, P<0.05 compared to control. These results show that aluminum interferes with delta-aminolevulinate dehydratase activity in vitro and in vivo. The accumulation of this element was in the order: liver > kidney > brain. Furthermore, aluminum had only inhibitory properties in vitro, while in vivo it inhibited or stimulated the enzyme depending on the organ studied.

  12. Caracterización patogénica de los recién nacidos con malformaciones múltiples

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    Francisca Alonso Lotti

    1998-06-01

    Full Text Available El Registro Cubano de Malformaciones Congénitas (RECUMAC ha analizado 520 578 recién nacidos en 36 hospitales ginecobstétricos de 13 provincias de Cuba en un período de 12 años (de marzo de 1985 a diciembre de 1996, en el cual la prevalencia de malformaciones congénitas al nacimiento es de 179,8 por 10 000 nacimientos. El 24,6 % de los casos presentó 2 ó más malformaciones asociadas entre sí. Se realizó la clasificación de los multimalformados y los síndromes resultaron ser los más frecuentes. Entre los cromosómicos, el síndrome de Down ocupó el primer lugar, con una prevalencia al nacimiento de 7,8 por 10 000 nacimientos. En relación con los monogénicos heredados con modelos autosómicos dominante y recesivo la acondroplasia y el albinismo presentaron el mayor número de casos para una prevalencia al nacimiento de 0,44 y 0,21 por 10 000 nacimientos, respectivamente.The Cuban Registry of Congenital Malformations (CRCM has analyzed 520 578 newborns at 36 gynecobstetric hospitals in 13 provinces af Cuba for 12 years (from March, 1985 to December, 1996, in which the prevalence of malformations at birth is of 179.8 per 10 000 births. 24.6 % of the cases presented 2 or more malformations associated among themselves. The classification of those suffering from multimalformation was carried out and syndromes proved to be the most frequent. Within the cromosomic syndromes the Down´s syndrome was in the first place with a prevalence at birth of 7.8 per 10 000 births´. In connection with monogenic syndromes inherited with dominant and recessive autosomal models, achondroplasia and albinism had the highest number of cases for a prevalence at birth of 0.44 and 0.21 per 10 000 births, respectively.

  13. Four kinds of ENU-induced white spot mice and chromosome locations of the mutant genes

    Institute of Scientific and Technical Information of China (English)

    WU Baojin; MAO Huihua; SHAO Yixiang; XUE Zhengfeng; LI Houda

    2003-01-01

    Phenotype-driven is the name for an approach used to study gene functions through mutagenesis, location and cloning of the mutant gene. In this study, 150 male C57BL/6J(B6) mice were treated with ENU and reproduced a total offspring of 3860. Of these descendants, 210 exhibited mutation phenotypes by screening, and more than 10 of them are hereditable. Four kinds of mutant mice, named Wbct, W-1Bao, W-2Bao, and W-3Bao, showed dominant hereditary white spot mutation with partial albinism on their belly, distal limbs and tail terminal. To map these mutant genes, 39 microsatellites, equally distributed on the mouse genome and with difference between B6 and DBA/2J (D2), were selected to scan the genome after discrimination of the white spots in the F2 mice [(B6×D2)×D2]. It is found that, the log odds score (LODS) between W-1Bao and D5Mit168 is 0.56, and the LODS of W-1Bao and D5Mit352 is 4.47. With the gradual application of microsatellites D5Mit290, D5Mit312, D5Mit308 and D5Mit356 that are close to the mutant gene, and the number of F2 mice going up to 537, the mutant W-1Bao is located between D5Mit356 and D5Mit308 on chromosome 5, about 42.19 cM from the centromere. In the same way, W-2Bao and W-3Bao are mapped nearby W-1Bao, and Wbct is located on chromosome 1, about 41.6 cM from the centromere. After searching for the mouse genome database (MGD) and performing a one-by-one study of all genes located on chromosome subregion, it is believed that the kit gene is an excellent candidate for the white spot mutations of W-1Bao, W-2Bao and W-3Bao.

  14. Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban.

    Science.gov (United States)

    Okpala, Nonso Ejikeme; Umeh, Rich Enujioke; Onwasigwe, Ernest Nnemeka

    2015-01-01

    A cross-sectional survey of the prevalence of eye injuries among primary school children in two noncontiguous local government areas of Enugu State of Nigeria was undertaken. One of the local government areas was urban, while the other one was rural. Children who were corporal punishment. Corporal punishment-related eye injury, according to this study, appears to be common in the rural area and affects boys predominantly. Other human intermediary agents that cause an eye injury include passersby (2.04%), RTA (2.04%), siblings (2.04%), and others (1.02%). The primary agents that caused an eye injury were sticks/wood, 29 (29.60%); stone, 21 (21.43%); pieces of metal, 19 (19.39%); fall, 10 (10.20%); fight/fist blow, 9 (9.918%); plastic, 2 (2.04%); fingernails, 2 (2.04%); farm tools/fruits, 2 (2.04%); and RTA, glass, and headbutt, each 1.02%. Farm implements/fruits as well as fingernails appear to be fairly common primary agents that cause an eye injury in the rural Enugu, Nigeria. In terms of prevalence, there was no significant difference between the urban and rural areas. The findings from this study showed a high prevalence of eye injury among primary school children. In terms of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis

  15. A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice.

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    Alejandra Young

    Full Text Available PURPOSE: Ocular Albinism type 1 (OA1 is a disease caused by mutations in the OA1 gene and characterized by the presence of macromelanosomes in the retinal pigment epithelium (RPE as well as abnormal crossing of the optic axons at the optic chiasm. We showed in our previous studies in mice that Oa1 activates specifically Gαi3 in its signaling pathway and thus, hypothesized that a constitutively active Gαi3 in the RPE of Oa1-/- mice might keep on the Oa1 signaling cascade and prevent the formation of macromelanosomes. To test this hypothesis, we have generated transgenic mice that carry the constitutively active Gαi3 (Q204L protein in the RPE of Oa1-/- mice and are now reporting the effects that the transgene produced on the Oa1-/- RPE phenotype. METHODS: Transgenic mice carrying RPE-specific expression of the constitutively active Gαi3 (Q204L were generated by injecting fertilized eggs of Oa1-/- females with a lentivirus containing the Gαi3 (Q204L cDNA. PCR, Southern blots, Western blots and confocal microscopy were used to confirm the presence of the transgene in the RPE of positive transgenic mice. Morphometrical analyses were performed using electron microscopy to compare the size and number of melanosomes per RPE area in putative Oa1-/-, Gαi3 (Q204L transgenic mice with those of wild-type NCrl and Oa1-/- mice. RESULTS: We found a correlation between the presence of the constitutively active Gαi3 (Q204L transgene and the rescue of the normal phenotype of RPE melanosomes in Oa1-/-, Gαi3 (Q204L mice. These mice have higher density of melanosomes per RPE area and a larger number of small melanosomes than Oa1-/- mice, and their RPE phenotype is similar to that of wild-type mice. CONCLUSIONS: Our results show that a constitutively active Gαi3 protein can by-pass the lack of Oa1 protein in Oa1-/- mice and consequently rescue the RPE melanosomal phenotype.

  16. 大亚湾典型生态系统状况调查与分析%Survey and analysis of typical ecosystem status in Daya Bay

    Institute of Scientific and Technical Information of China (English)

    柯东胜; 彭晓娟; 吴玲铃; 兰圣迎

    2009-01-01

    大亚湾典型生态系统状况调查表明:过度捕捞,乱捕及违禁捕捞使大亚湾水产资源大幅下降,传统的渔汛早已不复存在;岸线、海滩过度开发、非法盗猎、航道阻隔、海域环境污染和诸多人为误捕、滥杀和破坏产卵环境等原因,大亚湾绿海龟的生存环境受到严重威胁;港口开发和水下爆破等致使珊瑚礁群落的优势种发生改变及石珊瑚出现白化现象;大型海岸工程的建设和过度对滩涂的围垦养殖,导致大亚湾红树林多以小簇或单株零散分布,红树林生态系统已处于一种极不健康的状态;大亚湾地区的滨海湿地面积逐年减少,人工湿地面积逐渐增大,天然湿地林相退化严重,湿地的外貌和结构日趋简单,降低了湿地生态和环境的功能.%The survey of the typical ecosystem status was carried out in Daya Bay. The paper deals with the overfishing and violating fishing resulted in the aquatic stocks in Daya Bay, and then no regular fishing season formed, the excessive exploitation of shoreline and beach, unlawful poaching, shipping lane obstructing, and the marine polluting, spawning conditions destroyed by the green turtle habitat. The seaport construction and submarine explosion obviously affected the coral reef ecosystem and resulted in the dominant variation of coral reef community as well as albinism phinomena of coral reef. The excessive buildings in the seashore led to the mangrove distributing in little cluster or individual, hence the mangrove ecosystem was in unhealthy status. The coast wetland in Daya Bay was decreased year by year. While the man-made wetland area was gradually increased, the natural wetland forest phase was decreased seriously. The wetland appearance and pattern was of blankness and wetland ecosystem function dropped.

  17. Autofecundação e fecundação cruzada em Australorbis glabratus Self and cross-fertilization in Australorbis glabratus

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    W. Lobato Paraense

    1955-12-01

    Full Text Available Um espécime de A. glabratus criado isoladamente é capaz de reproduzir-se perfeitamente bem por autofecundação. Entretanto, quando em companhia de outro indivíduo da mesma espécie, reproduz-se exclusivamente por cruzamento. A possibilidade da formação de uma população a partir de um único indivíduo permite explicar a ocorrência de certas colônias de planorbídeos com características peculiares e pequena variação individual, além de explicar a reconstituição de populações tratadas com planorbicidas, desde que um único indivíduo possa escapar à destruição. Utilizando o fator de albinismo como marcador genético em experiências de cruzamento, torna-se fácil distinguir na geração F[1] os produtos resultantes de fecundação cruzada daqueles produzidos por autofecundação. O emprêgo de espécimes albinos na experimentação genética aplicada à sistemática permitirá uma caracterização biológica segura das espécies, reforçando assim o critério morfológico.A single specimen of A. glabratus grown in isolation is able to reproduce quite well by self-fertilization. If it joins another conspecific individual, however, it reproduces exclusively by cross-fertilization. The possibility of a single specimen being able to give rise to a population may explain the occurrence of some colonies of planorbids showing particular characteristics and rather little individual variation, besides denoting that after treatment with planorbicides a single surviving specimen will be able to restore the population. By using the factor of albinism as genetic marker in crossing experiments, in F[1] generation a distinction can be easily made between the specimens obtained through cross- and self-fertilization. The use of albino snails in genetical experimentation applied to systematics will contribute to the biological recognition of species, thus reinforcing the morphological criterion.

  18. A comparison of two methods of logMAR visual acuity data scoring for statistical analysis

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    O. A. Oduntan

    2009-12-01

    Full Text Available The purpose of this study was to compare two methods of logMAR visual acuity (VA scoring. The two methods are referred to as letter scoring (method 1 and line scoring (method 2. The two methods were applied to VA data obtained from one hundred and forty (N=140 children with oculocutaneous albinism. Descriptive, correlation andregression statistics were then used to analyze the data.  Also, where applicable, the Bland and Altman analysis was used to compare sets of data from the two methods.  The right and left eyes data were included in the study, but because the findings were similar in both eyes, only the results for the right eyes are presented in this paper.  For method 1, the mean unaided VA (mean UAOD1 = 0.39 ±0.15 logMAR. The mean aided (mean ADOD1 VA = 0.50 ± 0.16 logMAR.  For method 2, the mean unaided (mean UAOD2 VA = 0.71 ± 0.15 logMAR, while the mean aided VA (mean ADOD2 = 0.60 ± 0.16 logMAR. The range and mean values of the improvement in VA for both methods were the same. The unaided VAs (UAOD1, UAOD2 and aided (ADOD1, ADOD2 for methods 1 and 2 correlated negatively (Unaided, r = –1, p<0.05, (Aided, r = –1, p<0.05.  The improvement in VA (differences between the unaided and aided VA values (DOD1 and DOD2 were positively correlated (r = +1, p <0.05. The Bland and Altman analyses showed that the VA improvement (unaided – aided VA values (DOD1 and DOD2 were similar for the two methods. Findings indicated that only the improvement in VA could be compared when different scoring methods are used. Therefore the scoring method used in any VA research project should be stated in the publication so that appropriate comparisons could be made by other researchers.

  19. Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing

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    de Gruijter Johanna

    2011-12-01

    Full Text Available Abstract Background Numerous genome-wide scans conducted by genotyping previously ascertained single-nucleotide polymorphisms (SNPs have provided candidate signatures for positive selection in various regions of the human genome, including in genes involved in pigmentation traits. However, it is unclear how well the signatures discovered by such haplotype-based test statistics can be reproduced in tests based on full resequencing data. Four genes (oculocutaneous albinism II (OCA2, tyrosinase-related protein 1 (TYRP1, dopachrome tautomerase (DCT, and KIT ligand (KITLG implicated in human skin-color variation, have shown evidence for positive selection in Europeans and East Asians in previous SNP-scan data. In the current study, we resequenced 4.7 to 6.7 kb of DNA from each of these genes in Africans, Europeans, East Asians, and South Asians. Results Applying all commonly used neutrality-test statistics for allele frequency distribution to the newly generated sequence data provided conflicting results regarding evidence for positive selection. Previous haplotype-based findings could not be clearly confirmed. Although some tests were marginally significant for some populations and genes, none of them were significant after multiple-testing correction. Combined P values for each gene-population pair did not improve these results. Application of Approximate Bayesian Computation Markov chain Monte Carlo based to these sequence data using a simple forward simulator revealed broad posterior distributions of the selective parameters for all four genes, providing no support for positive selection. However, when we applied this approach to published sequence data on SLC45A2, another human pigmentation candidate gene, we could readily confirm evidence for positive selection, as previously detected with sequence-based and some haplotype-based tests. Conclusions Overall, our data indicate that even genes that are strong biological candidates for positive

  20. Treatment of cutaneous tumors with topical 5% imiquimod cream

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    Sabrina Sisto Alessi

    2009-01-01

    Full Text Available INTRODUCTION: There are various approaches to the treatment of cutaneous tumors; one of them is treatment with imiquimod, a synthetic toll-like receptor agonist with a low molecular weight that offers a topical, noninvasive, and non-surgical therapeutic option. The main objective of our study was to provide data on 89 patients who used a 5% imiquimod cream for the treatment of cutaneous tumors at the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas from 2003 to 2008. MATERIALS AND METHODS: Here, we present our experience in the treatment of 123 cutaneous tumors of various types, including basal cell carcinoma (BCC, squamous cell carcinoma (SCC, Bowen's disease, erythroplasia of Queyrat, Paget's disease, and trichoepithelioma, with 5% imiquimod cream from 2003 to 2008 in the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas. Patients were divided into two separate groups according to their diagnosis and comorbidities; these comorbidities included epidermodysplasia verruciformis, xeroderma pigmentosum, albinism, basal cell nevus syndrome, Brooke-Spiegler syndrome, HIV, chronic lymphocytic leukemia, B-cell lymphoma, and kidney transplantation. Treatment duration, response to imiquimod, follow-up, recurrence, and local and systemic reactions associated with use of the drug were analyzed. Epidemiological data were obtained and cure rates were calculated. RESULTS: The ratio of women to men was 1.28:1, and the mean age was 63.1 years. Tumors were located mainly on the face, back, trunk, and legs. For patients with comorbidities, the overall cure rate was 38%. These specific patients demonstrated cure rates of 83.5% for superficial BCC and 50% for Bowen's disease. Aggressive BCC and superficial and nodular BCC did not present a good response to treatment. Trichoepitheliomas and nodular BCC showed a partial response, and erythroplasia of Queyrat showed a complete response. For patients without

  1. Book Reviews

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    N.J. Gubser

    1968-01-01

    Full Text Available - Ward H. Goodenough, Frederick Barth, Models of social organization. Royal Anthropological Institute Occasional Paper No. 23. Royal Anthropological Institute of Great Britain and Ireland, London 1966. Pp. vi, 33. - E. Postel-Coster, Carl A. Schmitz, Grundformen der Verwandtschaft. Basler Beiträge zur Geographie und Ethnologie, Ethnologische Reihe Heft I. Pharos-Verlag Hansrudolf Schwabe AG, Basel 1964. 134 pp. - B. Siertsema, John J. Gumperz, “The ethnography of communication”; Special publication of American Anthropologist, Part 2, Vol. 66, no. 6, December 1964. American Anthropological Association, Menasha, Wisconsin, U.S.A., 1964, 186 pp., Dell Hymes (eds. - J. Voorhoeve, William J. Samarin, Field Linguistics. A guide to linguistic fieldwork. Holt, Rinehart & Winston Inc., New York, etc., 1967. X + 246 pp. - P.J.R. Modderman, André Leroi-Gourhan, La geste et la parole. Albin Michel, Paris 1964. 2 dln., 300 en 268 pp. Vele ills. - David F. Pocock, Andre Beteille, Caste, class and power. Changing patterns of stratification in a Tanjore village. University of California Press, Berkeley 1965. 225 pp. - A. Trouwborst, P.C. Lloyd, The new elites of tropical Africa. Studies presented and discussed at the sixth international African seminar at the University of Ibadan, Nigeria, July 1964 . Foreword by Daryll Forde. Introduction by P.C. Lloyd. Published for the International African Institute by the Oxford University Press. London 1966. X + 390 pp. - F.L. van Holthoon, Darryll Forde, West African Kingdoms in the 19th. century. O.U.P. for the International African Institute, London 1967. 281 pp., P.M. Kaberry (eds. - J.J. Romkes, David W. Brokensha, Social change at Larteh, Ghana. Clarendon Press. Oxford University Press. London 1966. 294 pp., 5 plates, 3 maps. - A.J.C. Lach de Bère, Merran Fraenkel, Tribe and class in Monrovia. Oxford University Press for the International African Institute, London, Ibadan, Accra, 1964; 244 blz. - F.L. van

  2. Congenital eye and adnexial disorders in tertiary health institutions in Abakaliki,Nigeria%尼日利亚阿巴卡利基地区三级医院的先天性眼及附属器疾病

    Institute of Scientific and Technical Information of China (English)

    Chijioke G Onyekonwu; Chinwe L Onyekonwu

    2009-01-01

    AIM: To ascertain the types and frequencies of congenital eye and adnexial disorders seen at two tertiary health facilities in Abakaliki,Nigeria. METHODS: A retrospective review of the case records of new patients with congenital eye disorders who were a year old or less and presented to the eye clinics of both tertiary institutions between May 2001 and April 2008 was done. Collected data were analysed for age and sex of the patients,types,frequencies,ocular and systemic associations of the disorders using simple statistical METHODS: .RESULTS: There were a total of 199 children with ocular pathologies recorded within the study period. Of these,50 (25.1%) children had congenital disorders. There were 27 (54%) males and 23 (46%) females. Thirty two (64%) children were less than 6 months of age. The commonest disorders were nasolacrimal duct obstruction 10(20%),congenital ptosis 7(14%),dermoid cyst 5(10%),buphthalmos 4(8%) and congenital cataract 3(6%). All these may cause avoidable childhood blindness. The least common pathologies included albinism 1(2%),anophthalmos 1(2%),retinoblastoma 2(4%) and optic atrophy 2(4%). These may cause irreversible blindness and poor vision.CONCLUSION: Although congenital eye disorders are not common,they are potential causes of childhood blindness and low vision. Early childhood screening is advocated to enable early detection and prompt intervention.%目的:确定在尼日利亚阿巴卡利基地区两个三级医院就诊的先天性眼及附属器疾病的类型和发病率.方法:回顾分析2001-05/2008-04就诊于两个三级医院眼科的1岁及1岁以下的先天性眼病患者的病历记录,用简单的统计方法分析年龄、性别、病种、发病率、眼部及全身的相关疾病等信息.结果:研究共记录有199例眼病患儿.其中先天性眼病的50 例(25.1%).包括男27例(54%),女23 例(46%).患儿<6个月龄的占2/3(64%).最常见的疾病为鼻泪管阻塞10例(20%),先天性上睑下垂10例(14%)

  3. 系统性红斑狼疮继发深部真菌感染的临床研究%Clinical study of invasive fungal infection secondary to systemic lupus erythematosus

    Institute of Scientific and Technical Information of China (English)

    邓红香; 游运辉; 刘萍; 赵洪军; 周亚欧; 谢艳莉; 左晓霞

    2013-01-01

    Objective: To study the clinical characteristics of invasive fungal infection secondary to systemic lupus erythematosus (SLE). Methods: We observed the clinical features and experimental examination in 91 patients treated in Xiangya Hospital in recent years, of which 48 patients with invasive fungal infection and 41 patients without invasive fungal infection. Results: The invasive fungal infection secondary to SLE mainly occurred in the lungs, nervous system, and urinary system. The fungi were mainly Candida albins and Aspergillus. The rate of invasive fungal infection in SLE patients and the level of CRP and TNF-a in these patients were significantly increased. The occurrence of invasive fungal infection was positively correlated with the prolonged course of disease, long-term use of immunosuppressants and antibiotics, and occurrence of complications, such as hypoproteinemia, leukocytopenia, and so on. The levels of C-reactive protein (CRP) and tumor necrosis factor-a(TNF-α) were increased in SLE patients with invasive fungal infection. Conclusion: The clinical features of SLE patients with invasive fungal infections are long course of disease, long-time use of immunosuppressants or antibiotics, and occurrence of complications, such as hypoproteinemia or leukopenia. The level of CRP and TNF-α can be used as an important reference index for diagnosing invasive fungal infections.%目的:探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)继发深部真菌感染的临床特点.方法:对中南大学湘雅医院近年收治的48例合并深部真菌感染的SLE患者及41例未合并感染的SLE患者进行临床观察研究.结果:SLE合并深部真菌感染的部位以肺部、神经系统、泌尿系统为主,致病真菌以白色念珠菌、曲霉菌为主.随着病程、免疫抑制药及抗生素使用时间的延长,低蛋白血症、白细胞减少等合并症的出现,SLE患者深部真菌感染的发生率明显增加,SLE继发深部真菌感染

  4. A population-based study of visual impairment in the Lower Tugela health district in KZN, SA

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    K.S. Naidoo

    2013-01-01

    Full Text Available A cross-sectional, population-based, epidemiological study of blindness and visual impairment was conducted to evaluate the prevalence of vision loss and various sight-threatening conditions in the Lower Tugela health district of the KwaZulu-Natal province, South Africa. This study was conducted on a randomly selected sample of 3444 individuals from the district. This number represented 84% of those who were visited and 80.1% of the total sample selected. The participants ranged in age from 5 to 93 years (mean of 29.2 years and a median of 20.0 years. The proportion of men to women differed between participants aged <30 years and those aged >30 years. In both age groups, women represented the majority of participants (66.5%, but the number of women to men in the older age group was approximately twice that found in the group aged less than 30 years. The difference in age between the men and women in the study was not statistically significant (p >0.5. The study revealed that 6.4% of the population studied were visually impaired. The distribution of uncorrected visual acuity was better for women than for men for both OD and OS (p = 0.000 for OD and OS. The main causes of visual impairment were refractive error (44.5%, cataract (31.2%, glaucoma (6.0%, hypertensive retinopathy (4.1% and diabetic retinopathy (4.1%. Unilateral blindness (OD was present in 0.78% (95% Confidence interval (CI: 0.42%-1.14% of participants and unilateral blindness (OS was present in 1.1% (95% CI: 0.70%-1.50%. Thirty-one participants (0.9% were bilaterally blind with the main causes being cataracts (54.8% and refractive error (12.9%. Glaucoma and hypertensive retinopathy were responsible for 6.4% of ..bilateral blindness. Diabetic retinopathy, other retinal conditions (coloboma and corneal scarring were each responsible for 3.2% of bilateral blindness. Albinism, coloboma and age-related macular degeneration accounted for 9.7%

  5. Evaluación morfológica de brotes regenerados de callos de arroz (variedad IACuba-28 resistentes a higromicina Morphological Evaluation of Shoots Regenerated from Hygromycin-Resistant Rice Callus (cv IACuba-28

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    Hernández Díaz Carlos Alberto

    2007-07-01

    (EHA105/ pCAMBIA1300, containing the hygromycin-phosphotransferase gene as selection marker. After two weeks on selection medium, hygromycin-resistant calli were transferred to regeneration medium. Regenerated shoots were extracted every 5 days (over a 30-day period and classified into three classes according to their morphological structure: class I: vigorous shoot having typical bipolar structure; class II: shoot having small root compared to apical length, or shoot without roots; class III: shoots having an abnormal appearance, such as malformed leaves or albinism. Individualised shoots were transferred to MS medium containing hygromycin for evaluating their resistance to antibiotics. A relationship was observed between regenerated shoots’ morphological characteristics and the percentage of shoots’ viability on hygromycin. Class I prevailed at early shoot extraction and was the most resistant to hygromycin. Drastic class I reduction was found with later shoot extraction, whilst classes II and III became increased. Likewise, shoot viability became radically reduced on MS medium containing hygromycin. This result might be applied for improving efficiency regarding obtaining transgenic rice plants, taking into account the best time for obtaining high percentages of hygromycin-resistant shoots having the best morphological characteristics.

  6. Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban

    Science.gov (United States)

    Okpala, Nonso Ejikeme; Umeh, Rich Enujioke; Onwasigwe, Ernest Nnemeka

    2015-01-01

    .04%), siblings (2.04%), and others (1.02%). The primary agents that caused an eye injury were sticks/wood, 29 (29.60%); stone, 21 (21.43%); pieces of metal, 19 (19.39%); fall, 10 (10.20%); fight/fist blow, 9 (9.918%); plastic, 2 (2.04%); fingernails, 2 (2.04%); farm tools/fruits, 2 (2.04%); and RTA, glass, and headbutt, each 1.02%. Farm implements/fruits as well as fingernails appear to be fairly common primary agents that cause an eye injury in the rural Enugu, Nigeria. In terms of prevalence, there was no significant difference between the urban and rural areas. The findings from this study showed a high prevalence of eye injury among primary school children. In terms of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis pigmentosa, 0.08% each. The annual incidence of an eye injury according to this study was 3.48%. The majority of the causes of an eye injury, as per this study, were preventable. Appropriate promotion of preventive eye care among children may go a long way in reducing the burden of blindness from eye injuries. PMID:26124686

  7. Lixiviação de clomazone + ametryn, diuron + hexazinone e isoxaflutole em dois tipos de solo Ametryn + clomazone, diuron + hexazinone, and isoxaflutole leaching in two types of soil

    Directory of Open Access Journals (Sweden)

    P.A. Monquero

    2008-01-01

    + clomazone (1500 + 1000 g ha-1, isoxaflutol (187.5 g ha-1 and diuron + hexazinone (1170 + 330 g ha-1 on top of PVC columns filled with soil. After spraying, simulated rainfall of 10, 20, 40 and 80 mm was applied to the top of the columns. Three days later, Cucumis sativus and Sorghum bicolor were used in bioassays to detect herbicide leaching. The herbicide mixture ametryn + clomazone applied on clayey soil was detected at depths of 20 and 35 cm in applications of 10 and 80 mm of water, respectively. In soil with medium texture, a greater herbicide effect was observed in all the rainfall simulations. With application of 40 and 80 mm water, the herbicide was detected up to 35 cm depth in clayey soil. The herbicide isoxaflutole in clayey soil caused albinism in the aerial part of the plants up to 15 and 25 cm of depth with rainfall of 10 and 80 mm, respectively. In soil with medium texture, the highest rainfall simulations made possible to detect this herbicide up to 30 cm. With rainfall simulation of 80 mm, the herbicide mixture diuron + hexazinone was found at the depth of 30 cm in both soils, causing toxic effects of 25 and 60% on the bio-indicator plants in clayey and medium soil, respectively. It was concluded that all the herbicides assessed show a tendency to be leached under rainfall or artificial irrigation influence, with more pronounced effects in medium soils with lower organic matter content.

  8. 自制防晒乳膏体外及豚鼠在体防晒性能的评价%Photoprotective effect of a self-made sunscreen cream: an evaluation in vitro and in vivo by using guinea pigs

    Institute of Scientific and Technical Information of China (English)

    马志超; 林银花; 张晶; 周欣; 宋洪涛

    2012-01-01

    [目的]观察自制防晒乳膏的防晒指数SPF值和PFA值.[方法]体外法测定样品防晒指数:将样品以2μl/cm2的剂量涂抹于仿生皮肤3M膜上,然后用防晒指数测定仪测定样品的防晒指数.豚鼠在体防晒指数的测定:白化豚鼠48只,随机分为8组,其中4组不涂防晒样品,4组分别涂布自制防晒乳膏和对照样品(某市售防晒制剂),使用SUV-1000型日光紫外线模拟器模拟紫外线照射,测定样品防晒指数.[结果]体外法检测自制防晒乳膏和某市售制剂的SPF值分别为32.26±2.42和30.87±2.57,PFA值分别是24.28±2.44和17.53±2,28,两种制剂SPF相比,t=0.94,P>0.05(n=5);但自制防晒乳膏对UVA的防护效果优于某市售制剂,t=4.52,P< 0.01(n=5).豚鼠在体法检测自制防晒乳膏和某市售制剂的SPF值分别为30.39±6.65和28.79±7.36,PFA> 8.91和>8.93,两种制剂SPF值比较,f=0.38,P> 0.05(n=12).[结论]自制防晒乳膏和某市售制剂相比,对紫外线的防护效果相当.%[Objective] To determine the sun protection factor (SPF) and protection factor of ultraviolet A (PFA) of a self-made sunscreen cream.[Methods] The sample of a self-made sunscreen cream and a commercial sunscreen cream were painted to an artificial skin (3M film) at a dose of 2 μl/cm2,and a tester was used to evaluate their photoprotective effect.A total of 48 albinism guinea pigs were classified into 8 groups to remain unprotected or be protected by the self-made or commercial sunscreen cream.A solar ultraviolet light simulator (SUV-1000) was used to simulate the ultraviolet rays in sunlight to irradiate the guinea pigs,and the photoprotecfive effect of these sunscreen creams was determined.[Results] The in vitro evaluation revealed that the SPF value of the self-made sun-screen cream and commercial cream was 32.26 ± 2.42 and 30.87 ± 2.57respectively (n =5,t =0.94,P > 0.05),and the PFA value was 24.28 ± 2.44 and 17.53 ± 2.28 respectively (n =5,t =4.52,P< 0

  9. Book Reviews

    Directory of Open Access Journals (Sweden)

    Redactie KITLV

    1994-01-01

    Full Text Available -Peter Hulme, Simon Gikandi, Writing in limbo: Modernism and Caribbean literature. Ithaca: Cornell University Press, 1992. x + 260 pp. -Charles V. Carnegie, Alistair Hennessy, Intellectuals in the twentieth-century Caribbean (Volume 1 - Spectre of the new class: The Commonwealth Caribbean. London: Macmillan, 1992. xvii 204 pp. -Nigel Rigby, Anne Walmsley, The Caribbean artists movement, 1966-1972: A literary and cultural history. London: New Beacon Books, 1992. xx + 356 pp. -Carl Pedersen, Tyrone Tillery, Claude McKay: A black poet's struggle for identity. Amherst: University of Massachusetts Press, 1992. xii + 235 pp. -Simone Dreyfus, Irving Rouse, The Tainos: Rise and decline of the people who greeted Columbus. New Haven: Yale University Press, 1992. xii + 211 pp. -Louis Allaire, Antonio M. Stevens-Arroyo, Cave of the Jagua: The mythological world of the Taino. Alburquerque: University of New Mexico Press, 1988. xiii + 282 pp. -Irving Rouse, William F. Keegan, The people who discovered Columbus: The prehistory of the Bahamas. Gainesville: University of Florida Press, 1992. xx + 279 pp. -Neil L. Whitehead, Philip P. Boucher, Cannibal encounters: Europeans and Island Caribs, 1492-1763. Baltimore: John Hopkins University Press, 1992. xii + 217 pp. -Peter Kloos, Kaliña, des amérindiens à Paris: Photographies du prince Roland. Présentées par Gérard Collomb. Paris: Créaphis, 1992. 119 pp. -Maureen Warner-Lewis, Alan Gregor Cobley ,The African-Caribbean connection: Historical and cultural perspectives. Bridgetown, Barbados: Department of History, University of the West Indies, Cave Hill, 1990. viii + 171 pp., Alvin Thompson (eds -H. Hoetink, Jean-Luc Bonniol, La couleur comme maléfice: une illustration créole de la généalogie des 'Blancs' et des 'Noirs'. Paris: Albin Michel, 1992. 304 pp. -Michael Aceto, Richard Price ,Two evenings in Saramaka. Chicago and London: University of Chicago Press, 1991. xvi + 417 pp., Sally Price (eds -Jorge P

  10. Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

    Directory of Open Access Journals (Sweden)

    Clairton Marcolongo-Pereira

    2010-10-01

    muscular system (arthrogryposis, three (6.25% the cardiovascular system (patent ductus arteriosus and unclassified malformation, one (2.08% the lymphatic system (hereditary lymphatic hypoplasia, one (2.08% the alimentary system (atresia ani, and one (2.08% the eye (congenital blindness. In five cases (10.41% different systems were affected (diprosopus. Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia or diseases suspected of being hereditary (chondrodysplasia were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration. In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia. In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia. It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.