Imprinting control within the compact Gnas locus

被引:18
作者
Peters, J [1 ]
Holmes, R
Monk, D
Beechey, CV
Moore, GE
Williamson, CM
机构
[1] MRC, Mammalian Genet Unit, Harwell OX11 0RD, Oxon, England
[2] Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, London, England
[3] Cornell Univ, Div Nutr Sci, Ithaca, NY 14853 USA
基金
英国医学研究理事会;
关键词
D O I
10.1159/000090832
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Mouse distal chromosome 2 was one of the earliest described imprinting regions. Maternal and paternal inheritance of the region is associated with opposite phenotypes affecting growth, development and behaviour. Mis-expression of proteins determined by the imprinted Gnas locus can account for the phenotypes. The imprinting domain in mouse distal chromosome 2 is small, comprising the Gnas locus. This locus is unusually complex, containing biallelic, maternally and paternally expressed transcripts that share exons. It also contains two germline differentially methylated regions that have the characteristics of imprinting control regions. One of these specifically controls the tissue-specific imprinting of the Gnas exon 1 transcript but does not affect the imprinting of other transcripts. Imprinting of other transcripts may be controlled by the other germline differentially methylated region by a mechanism involving antisense RNA.
引用
收藏
页码:194 / 201
页数:8
相关论文
共 42 条
[21]  
Kelson Marcia C., 1999, Health Expect, V2, P129, DOI 10.1046/j.1369-6513.1999.00042.x
[22]   Two overlapping reading frames in a single exon encode interacting proteins - a novel way of gene usage [J].
Klemke, M ;
Kehlenbach, RH ;
Huttner, WB .
EMBO JOURNAL, 2001, 20 (14) :3849-3860
[23]   Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus [J].
Li, T ;
Vu, TH ;
Zeng, ZL ;
Nguyen, BT ;
Hayward, BE ;
Bonthron, DT ;
Hu, JF ;
Hoffman, AR .
GENOMICS, 2000, 69 (03) :295-304
[24]   Identification of a methylation imprint mark within the mouse Gnas locus [J].
Liu, J ;
Yu, SH ;
Litman, D ;
Chen, WP ;
Weinstein, LS .
MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (16) :5808-5817
[25]   A GNAS1 imprinting defect in pseudohypoparathyroidism type IB [J].
Liu, J ;
Litman, D ;
Rosenberg, MJ ;
Yu, SH ;
Biesecker, LG ;
Weinstein, LS .
JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (09) :1167-1174
[26]   Identification of the control region for tissue-specific imprinting of the stimulatory G protein α-subunit [J].
Liu, J ;
Chen, M ;
Deng, CX ;
Bourc'his, D ;
Nealon, JG ;
Erlichman, B ;
Bestor, TH ;
Weinstein, LS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (15) :5513-5518
[27]   Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB [J].
Liu, J ;
Nealon, JG ;
Weinstein, LS .
HUMAN MOLECULAR GENETICS, 2005, 14 (01) :95-102
[28]   MAPPING STUDIES OF THE DISTAL IMPRINTING REGION OF MOUSE CHROMOSOME-2 [J].
PETERS, J ;
BEECHEY, CV ;
BALL, ST ;
EVANS, EP .
GENETICAL RESEARCH, 1994, 63 (03) :169-174
[29]   A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2 [J].
Peters, J ;
Wroe, SF ;
Wells, CA ;
Miller, HJ ;
Bodle, D ;
Beechey, CV ;
Williamson, CM ;
Kelsey, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (07) :3830-3835
[30]   The imprinted signaling protein XLαs is required for postnatal adaptation to feeding [J].
Plagge, A ;
Gordon, E ;
Dean, W ;
Boiani, R ;
Cinti, S ;
Peters, J ;
Kelsey, G .
NATURE GENETICS, 2004, 36 (08) :818-826