Imprinting and disease

被引:72
作者
Walter, J [1 ]
Paulsen, M [1 ]
机构
[1] Univ Saarland, FR Genet 8 2, D-66041 Saarbrucken, Germany
关键词
imprinting; DNA methylation; Beckwith-Wiedemann syndrome; epigenetics;
D O I
10.1016/S1084-9521(02)00142-8
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Deregulation of imprinted genes has been observed in a number of human diseases such as Beckwith-Wiedemann syndrome, Prader-Willi/Angelman syndromes and cancer. Imprinting diseases are characterised by complex patterns of mutations and associated phenotypes affecting pre- and postnatal growth and neurological functions. Regulation of imprinted gene expression is mediated by allele-specific epigenetic modifications of DNA and chromatin. These modifications preferentially affect central regulatory elements that control in cis over long distances allele-specific expression of several neighbouring genes. Investigations of imprinting diseases have a strong impact on biomedical research and provide interesting models for function and mechanisms of epigenetic gene control. (C) 2002 Elsevier Science Ltd. All rights reserved.
引用
收藏
页码:101 / 110
页数:10
相关论文
共 62 条
[1]   DISTRIBUTION OF PARTHENOGENETIC CELLS IN THE MOUSE-BRAIN AND THEIR INFLUENCE ON BRAIN-DEVELOPMENT AND BEHAVIOR [J].
ALLEN, ND ;
LOGAN, K ;
LALLY, G ;
DRAGE, DJ ;
NORRIS, ML ;
KEVERNE, EB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (23) :10782-10786
[2]   MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain [J].
Balmer, D ;
Arredondo, J ;
Samaco, RC ;
LaSalle, JM .
HUMAN GENETICS, 2002, 110 (06) :545-552
[3]   Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene [J].
Bell, AC ;
Felsenfeld, G .
NATURE, 2000, 405 (6785) :482-485
[4]   De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch [J].
Bielinska, B ;
Blaydes, SM ;
Buiting, K ;
Yang, T ;
Krajewska-Walasek, M ;
Horsthemke, B ;
Brannan, CI .
NATURE GENETICS, 2000, 25 (01) :74-78
[5]   Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation:: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS [J].
Bliek, J ;
Maas, SM ;
Ruijter, JM ;
Hennekam, RCM ;
Alders, M ;
Westerveld, A ;
Mannens, MMAM .
HUMAN MOLECULAR GENETICS, 2001, 10 (05) :467-476
[6]   Dnmt3L and the establishment of maternal genomic imprints [J].
Bourc'his, D ;
Xu, GL ;
Lin, CS ;
Bollman, B ;
Bestor, TH .
SCIENCE, 2001, 294 (5551) :2536-2539
[7]   A silencer element identified in Drosophila is required for imprinting of H19 reporter transgenes in mice [J].
Brenton, JD ;
Drewell, RA ;
Viville, S ;
Hilton, KJ ;
Barton, SC ;
Ainscough, JFX ;
Surani, MA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (16) :9242-9247
[8]   The SNRPN promoter is not required for genomic imprinting of the PraderWilli/Angelman domain in mice [J].
Bressler, J ;
Tsai, TF ;
Wu, MY ;
Tsai, SF ;
Ramirez, MA ;
Armstrong, D ;
Beaudet, AL .
NATURE GENETICS, 2001, 28 (03) :232-240
[9]   Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway [J].
Brown, KW ;
Villar, AJ ;
Bickmore, W ;
ClaytonSmith, J ;
Catchpoole, D ;
Maher, ER ;
Reik, W .
HUMAN MOLECULAR GENETICS, 1996, 5 (12) :2027-2032
[10]   A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp [J].
Buiting, K ;
Lich, C ;
Cottrell, S ;
Barnicoat, A ;
Horsthemke, B .
HUMAN GENETICS, 1999, 105 (06) :665-666