Imprinting in Angelman and Prader-Willi syndromes

被引:95
作者
Jiang, YH
Tsai, TF
Bressler, J
Beaudet, AL [1 ]
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Howard Hughes Med Inst, Houston, TX 77030 USA
关键词
D O I
10.1016/S0959-437X(98)80091-9
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiencies of gene expression from paternal or maternal chromosome 15q11-q13, respectively. Many advances have occurred during the past year. The gene for necdin was mapped in the PWS candidate region and found to be paternally expressed in mouse and human. The bisulfite method for analysis of methylation was established for genomic sequencing and diagnostics, and the methylation of Snrpn was studied in detail in the mouse. A region near the Snrpn promoter was shown to function as a silencer in Drosophila. Point mutations were found in the gene for EG-AP ubiquitin-protein ligase (UBE3A) identifying it as the AS gene, and tissue-specific imprinting (maternal expression) was shown in the human brain and in hippocampal neurons and Purkinje cells in the mouse.
引用
收藏
页码:334 / 342
页数:9
相关论文
共 75 条
  • [11] Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb
    Christian, SL
    Bhatt, NK
    Martin, SZ
    Sutcliffe, JS
    Kubota, T
    Huang, B
    Mutirangura, A
    Chinault, AC
    Beaudet, AL
    Ledbetter, DH
    [J]. GENOME RESEARCH, 1998, 8 (02): : 146 - 157
  • [12] Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
    Conroy, JM
    Grebe, TA
    Becker, LA
    Tsuchiya, K
    Nicholls, RD
    Buiting, K
    Horsthemke, B
    Cassidy, SB
    Schwartz, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (02) : 388 - 394
  • [13] Cook EH, 1997, AM J HUM GENET, V60, P928
  • [14] DEFICIENCY OF THE BETA-3 SUBUNIT OF THE TYPE-A GAMMA-AMINOBUTYRIC-ACID RECEPTOR CAUSES CLEFT-PALATE IN MICE
    CULIAT, CT
    STUBBS, LJ
    WOYCHIK, RP
    RUSSELL, LB
    JOHNSON, DK
    RINCHIK, EM
    [J]. NATURE GENETICS, 1995, 11 (03) : 344 - 346
  • [15] Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    Dittrich, B
    Buiting, K
    Korn, B
    Rickard, S
    Buxton, J
    Saitoh, S
    Nicholls, RD
    Poustka, A
    Winterpacht, A
    Zabel, B
    Horsthemke, B
    [J]. NATURE GENETICS, 1996, 14 (02) : 163 - 170
  • [16] MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMAN AND PRADER-WILLI PATIENTS
    GLENN, CC
    NICHOLLS, RD
    ROBINSON, WP
    SAITOH, S
    NIIKAWA, N
    SCHINZEL, A
    HORSTHEMKE, B
    DRISCOLL, DJ
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (09) : 1377 - 1382
  • [17] Genomic imprinting: Potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes
    Glenn, CC
    Driscoll, DJ
    Yang, TP
    Nicholls, RD
    [J]. MOLECULAR HUMAN REPRODUCTION, 1997, 3 (04) : 321 - 332
  • [18] THE CRITICAL REGION FOR ANGELMAN SYNDROME LIES BETWEEN D15S122 AND D15S113
    GREGER, V
    REIS, A
    LALANDE, M
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 53 (04): : 396 - 398
  • [19] Greger V, 1997, AM J HUM GENET, V60, P574
  • [20] ARREST OF CELL-GROWTH BY NECDIN, A NUCLEAR-PROTEIN EXPRESSED IN POSTMITOTIC NEURONS
    HAYASHI, Y
    MATSUYAMA, K
    TAKAGI, K
    SUGIURA, H
    YOSHIKAWA, K
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 213 (01) : 317 - 324