RECORD NO.: 95281484 AUTHOR: Brilliant MH; King R; Francke U; Schuffenhauer S; Meitinger T; Gardner JM; Durham-Pierre D; Nakatsu Y ADDRESS: Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111. TITLE: The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. SOURCE: Pigment Cell Res (PIG), 1994 Dec; 7 (6): 398-402 LANGUAGE: English COUNTRY PUB.: DENMARK ANNOUNCEMENT: 9509 PUB. TYPE: JOURNAL ARTICLE ABSTRACT: Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11-q13, a region associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), both of which involve profound imprinting effects. PWS patients lack sequences of paternal origin from 15q, whereas AS patients lack a maternal copy of an essential region from 15q. However, the critical regions for these syndromes are much smaller than the chromosomal region commonly deleted that often includes the P gene. Hypopigmentation in PWS and AS patients is correlated with deletions of one copy of the human P gene that is highly homologous with its mouse counterpart. A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the remaining chromosomal homologue of the P gene. Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected. MESH HEADINGS: Albinism, Oculocutaneous--genetics (*GE); Angelman Syndrome-- genetics (*GE); Carrier Proteins--physiology (PH)/genetics (*GE); Eye Color--genetics (*GE); Hypopigmentation--genetics (*GE); Membrane Proteins--physiology (PH)/genetics (*GE); Prader-Willi Syndrome--genetics (*GE); Cloning, Molecular; DNA, Complementary--genetics (GE); Genes, Structural; Genomic Imprinting; Mammals--genetics (GE); Mice; Mice, Mutant Strains; Models, Molecular; Pedigree; Animal; Comparative Study; Female; Human; Male; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S. GENE SYMBOL: COA2 CHEMICAL SUBS: 0 (pink-eyed dilution protein, human); 0 (Carrier Proteins); 0 (DNA, Complementary); 0 (Membrane Proteins) GRANT NO.: GM43840; GM; NIGMS; GM22167; GM; NIGMS; CA06927; CA; NCI; + STANDARD NO.: 0893-5785 DATES: Entered 950623