Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-11-23
pubmed:databankReference
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-291X
pubmed:author
pubmed:copyrightInfo
Copyright 1998 Academic Press.
pubmed:issnType
Print
pubmed:day
29
pubmed:volume
250
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
547-54
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein.
pubmed:affiliation
Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't