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Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein.

Abstract：

:We initiated the present work as part of an effort to identify and characterize genes from the EST2-HMG14 region from human chromosome 21 potentially responsible for some of the Down syndrome (DS) features. Genomic sample sequencing with cosmid clone A1047 located in the ETS2-HMG14 region of chromosome 21 has led to the identification and sequencing of a novel 1080-bp cDNA. This cDNA contains a potential ORF of 867 bp predicting a 288-amino-acid protein rich in leucine with a molecular weight of 32.8 kD. Northern blot analysis and RT-PRC indicate that the expression of this novel gene is high in testis and in the human leukemic T cell line Jurkat and lower in other tissues including all fetal tissues studied. We have called to this novel gene c21-LRP (chromosome 21 leucine-rich protein) and, because of its location in the DS-2 region, it could be a candidate for some of the DS anomalies. Mapping experiments have narrowed the location of the c21-LRP gene between markers D21S343 and D21S268 from chromosome 21. Analysis of the c21-LRP protein predicts two transmembrane helices and detects several signatures and potential homologies to known proteins pointing toward several potential roles for this protein.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Vidal-Taboada JM,Sanz S,Egeo A,Scartezzini P,Oliva R

doi

10.1006/bbrc.1998.9352

subject

Has Abstract

pub_date

1998-09-29 00:00:00

pages

547-54

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(98)99352-4

journal_volume

250

pub_type

杂志文章

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