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

被引：11

作者：

Guipponi, M

Scott, HS

Hattori, M

Ishii, K

Sakaki, Y

Antonarakis, SE

机构：

[1] Univ Geneva, Sch Med, Div Med Genet, Cantonal Hosp Geneva,Lab Human Mol Genet, Geneva, Switzerland

[2] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Tokyo, Japan

[3] RIKEN, Genom Sci Ctr, Wako, Saitama, Japan

来源：

CYTOGENETICS AND CELL GENETICS | 1998年 / 83卷 / 3-4期

关键词：

D O I：

10.1159/000015182

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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 similar to 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.

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页码：218 / 220

页数：3

相关论文

共 12 条

[1] 10 years of genomics, chromosome 21, and Down syndrome [J].

Antonarakis, SE .

GENOMICS, 1998, 51 (01) :1-16

[2] The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) [J].

Berry, GT ;

Mallee, JJ ;

Blouin, JL ;

Antonarakis, SE .

CYTOGENETICS AND CELL GENETICS, 1996, 73 (1-2) :77-78

[3] Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation [J].

Billuart, P ;

Bienvenu, T ;

Ronce, N ;

Des Portes, V ;

Vinet, MC ;

Zemni, R ;

Roest Crollius, H ;

Carrié, A ;

Fauchereau, F ;

Cherry, M ;

Briault, S ;

Hamel, B ;

Fryns, JP ;

Beldjord, C ;

Kahn, A ;

Moraine, C ;

Chelly, J .

NATURE, 1998, 392 (6679) :923-926

[4] Computational methods for the identification of genes in vertebrate genomic sequences [J].

Claverie, JM .

HUMAN MOLECULAR GENETICS, 1997, 6 (10) :1735-1744

[5] Mutations in GDI1 are responsible for X-linked non-specific mental retardation [J].

D'Adamo, P ;

Menegon, A ;

Lo Nigro, C ;

Grasso, M ;

Gulisano, M ;

Tamanini, F ;

Bienvenu, T ;

Gedeon, AK ;

Oostra, B ;

Wu, SK ;

Tandon, A ;

Valtorta, F ;

Balch, WE ;

Chelly, J ;

Toniolo, D .

NATURE GENETICS, 1998, 19 (02) :134-139

[6] Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon [J].

Guipponi, M ;

Scott, HS ;

Chen, H ;

Schebesta, A ;

Rossier, C ;

Antonarakis, SE .

GENOMICS, 1998, 53 (03) :369-376

[7] A novel method for making nested deletions and its application for sequencing of a 300 kb region of human APP locus [J].

Hattori, M ;

Tsukahara, F ;

Furuhata, Y ;

Tanahashi, H ;

Hirose, M ;

Saito, M ;

Tsukuni, S ;

Sakaki, Y .

NUCLEIC ACIDS RESEARCH, 1997, 25 (09) :1802-1808

[8] A MOUSE MODEL FOR DOWN-SYNDROME EXHIBITS LEARNING AND BEHAVIOR DEFICITS [J].

REEVES, RH ;

IRVING, NG ;

MORAN, TH ;

WOHN, A ;

KITT, C ;

SISODIA, SS ;

SCHMIDT, C ;

BRONSON, RT ;

DAVISSON, MT .

NATURE GENETICS, 1995, 11 (02) :177-184

[9] Dap160, a neural-specific Eps15 homology and multiple SH3 domain-containing protein that interacts with Drosophila dynamin [J].

Roos, J ;

Kelly, RB .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (30) :19108-19119

[10] Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities [J].

Sago, H ;

Carlson, EJ ;

Smith, DJ ;

Kilbridge, J ;

Rubin, EM ;

Mobley, WC ;

Epstein, CJ ;

Huang, TT .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (11) :6256-6261