Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene

Background  Oculocutaneous albinism (OCA) refers to a group of inherited disorders where the patients have little or no pigment in the eyes, skin and hair. Mutations in genes regulating multi‐step melanin biosynthesis are the basis of four ‘classical’ OCA types with overlapping clinical features. There are a few reports on defects in TYR and a single report on SLC45A2 in Indians affected with OCA but no report on OCA2 (a major locus related to the disease) and TYRP1.

[1]  K. Ray,et al.  Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. , 2010, Human genetics.

[2]  A. Scheuerle,et al.  A case of Asian Indian OCA3 patient , 2009, American journal of medical genetics. Part A.

[3]  Vijayalakshmi Perumalsamy,et al.  Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. , 2009, Human genetics.

[4]  R. Spritz,et al.  Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. , 2008, The Journal of investigative dermatology.

[5]  D. Rice,et al.  Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice , 2008, Veterinary pathology.

[6]  T. Dadd,et al.  SLC24A5 Encodes a trans-Golgi Network Protein with Potassium-dependent Sodium-Calcium Exchange Activity That Regulates Human Epidermal Melanogenesis* , 2008, Journal of Biological Chemistry.

[7]  D. Cox,et al.  A genomewide association study of skin pigmentation in a South Asian population. , 2007, American journal of human genetics.

[8]  Karen Brondum-Nielsen,et al.  Oculocutaneous albinism , 2007, Orphanet journal of rare diseases.

[9]  K. Ray,et al.  SLC45A2 variations in Indian oculocutaneous albinism patients. , 2007, Molecular vision.

[10]  Wei Chen,et al.  A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. , 2007, American journal of human genetics.

[11]  K. Ray,et al.  OCA1 in Different Ethnic Groups of India is Primarily Due to Founder Mutations in the Tyrosinase Gene , 2006, Annals of human genetics.

[12]  M. Das,et al.  Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. , 2005, Molecular vision.

[13]  H. Shimizu,et al.  Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. , 2004, American journal of human genetics.

[14]  H. Shimizu,et al.  Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. , 2003, The Journal of investigative dermatology.

[15]  S. Orlow,et al.  Pink-eyed dilution protein controls the processing of tyrosinase. , 2002, Molecular biology of the cell.

[16]  A. Shimada,et al.  Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka , 2001, Nature Genetics.

[17]  M. Ramsay,et al.  In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. , 2001, American journal of human genetics.

[18]  M. Kono,et al.  Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. , 2000, Pigment cell research.

[19]  P. Herse,et al.  Characteristics of a paediatric low vision population in a private eye hospital in India. , 2000, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

[20]  B. Weber,et al.  Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population , 1999, Human Genetics.

[21]  P. Lund,et al.  Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. , 1995, Journal of medical genetics.

[22]  R. Spritz,et al.  Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. , 1994, The New England journal of medicine.

[23]  R. Spritz,et al.  A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism , 1993, Nature.

[24]  M. Johns,et al.  Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol. , 1989, Analytical biochemistry.