Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

被引：185

作者：

Bastepe, M ^{[1
]}

Fröhlich, LF

Linglart, A

Abu-Zahra, HS

Tojo, K

Ward, LM

Jüppner, H

机构：

[1] Massachusetts Gen Hosp, Dept Med, Endocrine Unit, Boston, MA 02114 USA

[2] Harvard Univ, Sch Med, Boston, MA USA

[3] Jikei Univ, Sch Med, Dept Internal Med, Div Diabet & Endocrinol, Tokyo, Japan

[4] Childrens Hosp Eastern Ontario, Div Endocrinol & Metab, Ottawa, ON, Canada

[5] Massachusetts Gen Hosp, Massgen Hosp Children, Pediat Nephrol Unit, Boston, MA USA

来源：

NATURE GENETICS | 2005年 / 37卷 / 01期

关键词：

D O I：

10.1038/ng1487

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this disorder, we now report deletions that remove the differentially methylated region encompassing exon NESP55 and exons 3 and 4 of the antisense transcript. When inherited from a female, either deletion abolishes all maternal GNAS imprints and derepresses maternally silenced transcripts, suggesting that the deleted region contains a cis-acting element that controls imprinting of the maternal GNAS allele.

引用

页码：25 / 27

页数：3

共 15 条

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