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

来源：

CYTOGENETIC AND GENOME RESEARCH | 2006年 / 113卷 / 1-4期

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

页码：194 / 201

页数：8

共 42 条

[1] XLαs, the extra-long form of the α-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex [J].

Abramowitz, J ;

Grenet, D ;

Birnbaumer, M ;

Torres, HN ;

Birnbaumer, L .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (22) :8366-8371

[2] Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib [J].

Bastepe, M ;

Fröhlich, LF ;

Linglart, A ;

Abu-Zahra, HS ;

Tojo, K ;

Ward, LM ;

Jüppner, H .

NATURE GENETICS, 2005, 37 (01) :25-27

[3] Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS [J].

Bastepe, M ;

Fröhlich, LF ;

Hendy, GN ;

Indridason, OS ;

Josse, RG ;

Koshiyama, H ;

Körkkö, J ;

Nakamoto, JM ;

Rosenbloom, AL ;

Slyper, AH ;

Sugimoto, T ;

Tsatsoulis, A ;

Crawford, JD ;

Jüppner, H .

JOURNAL OF CLINICAL INVESTIGATION, 2003, 112 (08) :1255-1263

[4] Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B:: evidence for a long-range regulatory element within the imprinted GNAS1 locus [J].

Bastepe, M ;

Pincus, JE ;

Sugimoto, T ;

Tojo, K ;

Kanatani, M ;

Azuma, Y ;

Kruse, K ;

Rosenbloom, AL ;

Koshiyama, H ;

Jüppner, H .

HUMAN MOLECULAR GENETICS, 2001, 10 (12) :1231-1241

[5] Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13 [J].

Bonthron, DT ;

Hayward, BE ;

Moran, V ;

Strain, L .

HUMAN GENETICS, 2000, 107 (02) :165-175

[6]

CATTANACH BM, 1986, J EMBRYOL EXP MORPH, V97, P137

[7] Two imprinted gene mutations: three phenotypes [J].

Cattanach, BM ;

Peters, J ;

Ball, S ;

Rasberry, C .

HUMAN MOLECULAR GENETICS, 2000, 9 (15) :2263-2273

[8] DIFFERENTIAL ACTIVITY OF MATERNALLY AND PATERNALLY DERIVED CHROMOSOME REGIONS IN MICE [J].

CATTANACH, BM ;

KIRK, M .

NATURE, 1985, 315 (6019) :496-498

[9]

CATTANACH BM, 1997, GENOMIC IMPRINTING F, V18, P118

[10]

CATTANACH BM, 1992, MOUSE GENOME, V90, P82

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