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Evidence against GRB10 as the gene responsible for Silver-Russell syndrome.

Abstract：

:Recent evidence shows that Silver-Russell syndrome (SRS), the major functional deficit of which is limited growth, both intrauterine and postnatal, is due to a double dose of a gene within 7p11.2-p13 that is normally expressed exclusively from the maternal copy. Of the several growth-related genes in this chromosomal region, only GRB10 has been demonstrated to be imprinted; however, imprinting was limited to brain and muscle and was incomplete. Using reverse-transcript PCR, we now confirm GRB10 imprinting in these two tissues is isoform-specific and, more importantly, demonstrate absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth. Thus, it is unlikely that GRB10 is the gene responsible for SRS.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

McCann JA,Zheng H,Islam A,Goodyer CG,Polychronakos C

doi

10.1006/bbrc.2001.5500

subject

Has Abstract

pub_date

2001-09-07 00:00:00

pages

943-8

issue

5

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(01)95500-7

journal_volume

286

pub_type

杂志文章

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