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

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

13 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 language	English
Pages (from-to)	218-220
Number of pages	3
Journal	Cytogenetics and Cell Genetics
Volume	83
Issue number	3-4
Publication status	Published - 1998
Externally published	Yes

ASJC Scopus subject areas

Genetics
Cell Biology

Cite this

@article{08723ed7ce9742ee935e667f6cf1c17b,

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

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.",

author = "M. Guipponi and Scott, {H. S.} and Masahira Hattori and K. Ishii and Y. Sakaki and Antonarakis, {S. E.}",

year = "1998",

language = "English",

volume = "83",

pages = "218--220",

journal = "Cytogenetics and Cell Genetics",

issn = "0301-0171",

publisher = "S. Karger AG",

number = "3-4",

}

TY - JOUR

T1 - Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2

AU - Guipponi, M.

AU - Scott, H. S.

AU - Hattori, Masahira

AU - Ishii, K.

AU - Sakaki, Y.

AU - Antonarakis, S. E.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0032453895&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032453895&partnerID=8YFLogxK

M3 - Article

C2 - 10072581

AN - SCOPUS:0032453895

SN - 0301-0171

VL - 83

SP - 218

EP - 220

JO - Cytogenetics and Cell Genetics

JF - Cytogenetics and Cell Genetics

IS - 3-4

ER -

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

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this