RECORD NO.:  95315990
       AUTHOR:  Buiting K; Saitoh S; Gross S; Dittrich B; Schwartz S; 
                Nicholls RD; Horsthemke B
      ADDRESS:  Institut fur Humangenetik, Universitatsklinikum Essen, 
                Germany.
        TITLE:  Inherited microdeletions in the Angelman and Prader-Willi 
                syndromes define an imprinting centre on human chromosome 
                15.
       SOURCE:  Nat Genet (BRO), 1995 Apr; 9 (4): 395-400
     LANGUAGE:  English
 COUNTRY PUB.:  UNITED STATES
 ANNOUNCEMENT:  9510
    PUB. TYPE:  JOURNAL ARTICLE
     ABSTRACT:  A subset of patients with Angelman and Prader-Willi syndrome 
                have apparently normal chromosomes of biparental origin, but 
                abnormal DNA methylation at several loci within chromosome 
                15q11-13, and probably have a defect in imprinting. Using 
                probes from a newly established 160-kb contig including 
                D15S63 (PW71) and SNRPN, we have identified inherited 
                microdeletions in two AS families and three PWS families. 
                The deletions probably affect a single genetic element that 
                we term the 15q11-13 imprinting centre (IC). In our model, 
                the IC regulates the chromatin structure, DNA methylation 
                and gene expression in cis throughout 15q11-13. Mutations of 
                the imprinting centre can be transmitted silently through 
                the germline of one sex, but appear to block the resetting 
                of the imprint in the germline of the opposite sex.
MESH HEADINGS:  Angelman Syndrome--genetics (*GE); *Chromosomes, Human, Pair 
                15; *Genomic Imprinting; Prader-Willi Syndrome--genetics 
                (*GE); *Sequence Deletion; Autoantigens--genetics (GE); DNA--
                chemistry (CH)/genetics (GE); DNA Probes; Gene Expression; 
                Methylation; Models, Genetic; Pedigree; Restriction Mapping; 
                Ribonucleoproteins, Small Nuclear--genetics (GE); Female; 
                Human; Male; Support, Non-U.S. Gov't; Support, U.S. Gov't, 
                P.H.S.
  GENE SYMBOL:  SNRPN; PAR-1; PAR-5
CHEMICAL SUBS:  0 (Autoantigens); 0 (DNA Probes); 0 (Ribonucleoproteins, 
                Small Nuclear); 0 (Sm antigen); 9007-49-2 (DNA)
    GRANT NO.:  HD31491; HD; NICHD
 STANDARD NO.:  1061-4036
        DATES:  Entered 950803