当前位置： SCI文献检索 > BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS期刊下所有文献 > High-resolution physical map and identification of potentially regulatory sequences of the human SH3BGR located in the Down syndrome chromosomal region.

High-resolution physical map and identification of potentially regulatory sequences of the human SH3BGR located in the Down syndrome chromosomal region.

Abstract：

:We have isolated, mapped and sequenced the 5' promoter region of the human SH3BGR (SH3-Binding Glutamine Rich) gene located in the Down syndrome region-2, between markers D21S55 and MX1 of human chromosome 21. This region has been postulated as the minimal region for congenital heart disease and 6 facial and dermatoglyphic features present in Down syndrome. The SH3BGR gene is expressed in fetal and adult heart and in skeletal muscle and therefore it is a candidate gene for the congenital heart defect and muscle hypotonia. The 5' region of the gene has been positioned in a 115 kb PAC/cosmid contig with full EcoRI/SmaI restriction map covering cosmid pockets 122-123 as well as cosmid pocket 124 located between markers D21S268 and D21S220. Sequencing of the SH3BGR promoter region has allowed the identification of several potential regulatory elements of this candidate gene for the congenital heart disease and other potential DS features. Several of the elements identified are also present in other muscle-expressed genes.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Vidal-Taboada JM,Bergoñon S,Scartezzini P,Egeo A,Nizetic D,Oliva R

doi

10.1006/bbrc.1997.7816

subject

Has Abstract

pub_date

1997-12-18 00:00:00

pages

321-6

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(97)97816-5

journal_volume

241

pub_type

杂志文章

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