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

M. Guipponi, H. S. Scott, Masahira Hattori, K. Ishii, Y. Sakaki, S. E. Antonarakis

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 ~ 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.

Original languageEnglish
Pages (from-to)218-220
Number of pages3
JournalCytogenetics and Cell Genetics
Volume83
Issue number3-4
Publication statusPublished - 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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    Guipponi, M., Scott, H. S., Hattori, M., Ishii, K., Sakaki, Y., & Antonarakis, S. E. (1998). Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2. Cytogenetics and Cell Genetics, 83(3-4), 218-220.