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*

*この研究の対応する著者

研究成果: Article査読

13 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)218-220
ページ数3
ジャーナルCytogenetics and Cell Genetics
83
3-4
出版ステータスPublished - 1998
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 細胞生物学

フィンガープリント

「Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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