当前位置： SCI文献检索 > PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA期刊下所有文献 > The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.

The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.

Abstract：

:The callipyge mutation (CLPG) is an A to G transition that affects a muscle-specific long-range control element located in the middle of the 90-kb DLK1-GTL2 intergenic (IG) region. It causes ectopic expression of a 327-kb cluster of imprinted genes in skeletal muscle, resulting in the callipyge muscular hypertrophy and its non-Mendelian inheritance pattern known as polar overdominance. We herein demonstrate that the CLPG mutation alters the muscular epigenotype of the DLK1-GTL2 IG region in cis, including hypomethylation, acquisition of novel DNase-I hypersentivite sites, and, most strikingly, strongly enhanced bidirectional, long-range IG transcription. The callipyge phenotype thus emerges as a unique model to study the functional significance of IG transcription, which recently has proven to be a widespread, yet elusive, feature of the mammalian genome.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Takeda H,Caiment F,Smit M,Hiard S,Tordoir X,Cockett N,Georges M,Charlier C

doi

10.1073/pnas.0602844103

subject

Has Abstract

pub_date

2006-05-23 00:00:00

pages

8119-24

issue

21

eissn

0027-8424

issn

1091-6490

pii

0602844103

journal_volume

103

pub_type

杂志文章

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