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PMID: 11499680 Published · ppublish English Journal Article

The genes for the human VPS10 domain-containing receptors are large and contain many small exons.

Human genetics ·Vol. 108 ·No. 6 ·2001-06-00 ·Pages 529-36

Hampe W, Rezgaoui M, Hermans-Borgmeyer I, Schaller HC

Abstract

The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, except for the N-terminal VPS10 domain, differs from that of SorLA and sortilin. Using the databases of the human genome project we elucidated the exon-intron structures of the human VPS10-receptor genes. They contain many short exons, separated by introns, several of which extend over more than 50 kb. The three SorCS genes encompass more than 500 kb of genomic DNA and therefore represent some of the largest known human genes. All these genes map to chromosomal localisations of known genetic diseases, many of them neurological disorders, corresponding to the strong expression of these receptors in the brain. CpG islands are located in the first exon of each of the VPS10-receptor genes and might be involved in developmental or tissue-specific regulation of gene expression.

MeSH Terms
Amino Acid Sequence Binding Sites Blotting, Northern Chromosome Mapping CpG Islands/genetics DNA, Complementary/chemistry,genetics Evolution, Molecular Exons/genetics Genes/genetics Molecular Sequence Data Phylogeny Protein Isoforms/genetics RNA, Messenger/genetics,metabolism Receptors, Neuropeptide/genetics Sequence Alignment Sequence Analysis, DNA Sequence Homology, Amino Acid Tissue Distribution
Chemicals
DNA, Complementary Protein Isoforms RNA, Messenger Receptors, Neuropeptide
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Hampe W
Zentrum für Molekulare Neurobiologie, Universität Hamburg, Germany. hampe@uke.uni-hamburg.de
Rezgaoui M
Hermans-Borgmeyer I
Schaller H C
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
2001-06-00
Pages
529-36
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Databases
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