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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1998-11-23
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0006-291X
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 1998 Academic Press.
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pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
250
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
547-54
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9784380-Amino Acid Sequence,
pubmed-meshheading:9784380-Base Sequence,
pubmed-meshheading:9784380-Chromosome Mapping,
pubmed-meshheading:9784380-Chromosomes, Human, Pair 21,
pubmed-meshheading:9784380-DNA, Complementary,
pubmed-meshheading:9784380-Genome, Human,
pubmed-meshheading:9784380-Humans,
pubmed-meshheading:9784380-Molecular Sequence Data,
pubmed-meshheading:9784380-Proteins
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pubmed:year |
1998
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pubmed:articleTitle |
Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein.
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pubmed:affiliation |
Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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