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

ContributorsGuipponi, Michel; Scott, Hamish Steele; Hattori, M.; Ishii, K.; Sakaki, Y.; Antonarakis, Stylianos
Published inCytogenetics and cell genetics, vol. 83, no. 3-4, p. 218-220
Publication date1998
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.

Keywords
  • Adaptor Proteins, Vesicular Transport
  • Carrier Proteins/ genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21/ genetics
  • DNA/chemistry/ genetics
  • Exons
  • Genes/ genetics
  • Genetic Markers
  • Humans
  • Introns
  • Sequence Analysis, DNA
Affiliation
Citation (ISO format)
GUIPPONI, Michel et al. Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2. In: Cytogenetics and cell genetics, 1998, vol. 83, n° 3-4, p. 218–220.
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Commercial URLhttp://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=15182&Ausgabe=225350&ProduktNr=224037&filename=15182.pdf
ISSN of the journal0301-0171
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