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
  • [51] SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE-N (SNRPN), AN EXPRESSED GENE IN THE PRADER-WILLI SYNDROME CRITICAL REGION
    OZCELIK, T
    LEFF, S
    ROBINSON, W
    DONLON, T
    LALANDE, M
    SANJINES, E
    SCHINZEL, A
    FRANCKE, U
    [J]. NATURE GENETICS, 1992, 2 (04) : 265 - 269
  • [52] REIS A, 1994, AM J HUM GENET, V54, P741
  • [53] A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    Reiter, LT
    Murakami, T
    Koeuth, T
    Pentao, L
    Muzny, DM
    Gibbs, RA
    Lupski, JR
    [J]. NATURE GENETICS, 1996, 12 (03) : 288 - 297
  • [54] The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    Rougeulle, C
    Glatt, H
    Lalande, M
    [J]. NATURE GENETICS, 1997, 17 (01) : 14 - 15
  • [55] Saitoh S, 1997, AM J MED GENET, V68, P195, DOI 10.1002/(SICI)1096-8628(19970120)68:2<195::AID-AJMG15>3.0.CO
  • [56] 2-P
  • [57] Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
    Saitoh, S
    Buiting, K
    Rogan, PK
    Buxton, JL
    Driscoll, DJ
    Arnemann, J
    Konig, R
    Malcolm, S
    Horsthemke, B
    Nicholls, RD
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (15) : 7811 - 7815
  • [58] PROTEIN UBIQUITINATION INVOLVING AN E1-E2-E3 ENZYME UBIQUITIN THIOESTER CASCADE
    SCHEFFNER, M
    NUBER, U
    HUIBREGTSE, JM
    [J]. NATURE, 1995, 373 (6509) : 81 - 83
  • [59] Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
    Schulze, A
    Hansen, C
    Skakkebaek, NE
    BrondumNielsen, K
    Ledbetter, DH
    Tommerup, N
    [J]. NATURE GENETICS, 1996, 12 (04) : 452 - 454
  • [60] Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
    Shemer, R
    Birger, Y
    Riggs, AD
    Razin, A
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (19) : 10267 - 10272