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Cytogenet Cell Genet. 1998;83(3-4):218-20.

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.

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  • 1Laboratory of Human Molecular Genetics, University of Geneva Medical School, Division of Medical Genetics, Cantonal Hospital of Geneva, Geneva, Switzerland.

Abstract

The ubiquitously expressed and brain-specific human intersectin (ITSN) isoforms are scaffold proteins probably involved in general endocytosis and synaptic vesicle recycling, respectively. Here, analysis of 21q22.1-->q22.2 genomic sequence revealed that ITSN consists of 41 exons spanning approximately 250 kb and maps between GART and D21S325. The probable function of the ITSN isoforms and mapping position of ITSN suggest that disproportionate expression of this gene may be implicated in the phenotypic characteristics of Down syndrome.

PMID:
10072581
[PubMed - indexed for MEDLINE]
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