| SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers. | |
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MedLine Citation:
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PMID: 10746565 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have cloned the human full-length cDNA SEL1L, which is highly similar to the C. elegans sel-1 gene, an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mapping, which determines its molecular distance to microsatellite markers isolated in the region. We have found two new polymorphic (CA)n microsatellites located in the gene, and have identified the exon-intron boundaries. The gene is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protein exhibits a high degree of similarity compared to the mouse and nematode homologs. |
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Authors:
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I Biunno; L Bernard; P Dear; M Cattaneo; S Volorio; L Zannini; A Bankier; M Zollo |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 106 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 2000 Feb |
Date Detail:
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Created Date: 2000-04-13 Completed Date: 2000-04-13 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 227-35 Citation Subset: IM |
Affiliation:
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Istituto Tecnologie Biomediche Avanzate del CNR, Milano, Italy. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/AF052059; AF063095 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Animals Base Sequence Caenorhabditis elegans / genetics* DNA, Complementary Exons Genetic Markers* Humans Introns Mice Molecular Sequence Data Physical Chromosome Mapping* Polymorphism, Genetic* Proteins / genetics* Sequence Homology, Amino Acid |
| Grant Support | |
ID/Acronym/Agency:
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TGM06S01//Telethon |
| Chemical | |
Reg. No./Substance:
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0/DNA, Complementary; 0/Genetic Markers; 0/Proteins; 0/SEL1L protein, human; 0/Sel1h protein, mouse |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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