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