Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

C. Pucharcos, J. J. Fuentes, C. Casas, S. De la Luna, S. Alcantara, M. L. Arbones, E. Soriano, Xavier P. Estivill, M. Pritchard

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

By Alu-splice PCR we have trapped two exons and subsequently identified the full length cDNA of a human gene, Intersectin (ITSN), which maps to chromosome 21q22.1 between markers D21S320 and D21S325. The gene has the potential to code for at least two different protein isoforms by alternative splicing (ITSN-L and ITSN-S). Intersectin exists with a high degree of similarity in flies, frogs and mammals, suggesting a conserved role in higher eukaryotes. Analysis of the expression pattern of human and mouse Intersectin detected mRNAs in all adult and foetal tissues tested, with the longer isoform present in brain. In situ hybridisation studies in the developing mouse brain showed ITSN expression in both proliferating and differentiating neurons. The genomic structure of ITSN was determined using the chromosome 21 sequences deposited in the public databases. The protein contains several known motifs which implicate ITSN in clathrin mediated endocytosis and synaptic vesicle recycling. The expression pattern of Intersectin in mouse brain, its presumed function and its overexpression in brains from Down syndrome patients, suggest that Intersectin may contribute in a gene dosage-dependent manner to some of the abnormalities of Down syndrome.

Original languageEnglish
Pages (from-to)704-712
Number of pages9
JournalEuropean Journal of Human Genetics
Volume7
Issue number6
DOIs
Publication statusPublished - 1999
Externally publishedYes

Fingerprint

Down Syndrome
Organism Cloning
Carrier Proteins
Neurons
Brain
Protein Isoforms
intersectin 1
Chromosomes, Human, Pair 21
Clathrin
Gene Dosage
Synaptic Vesicles
Alternative Splicing
Endocytosis
Eukaryota
Diptera
Anura
Genes
In Situ Hybridization
Mammals
Exons

Keywords

  • Chromosome 21q22
  • Down syndrome
  • Endocytosis
  • Intersectin

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. / Pucharcos, C.; Fuentes, J. J.; Casas, C.; De la Luna, S.; Alcantara, S.; Arbones, M. L.; Soriano, E.; Estivill, Xavier P.; Pritchard, M.

In: European Journal of Human Genetics, Vol. 7, No. 6, 1999, p. 704-712.

Research output: Contribution to journalArticle

Pucharcos, C. ; Fuentes, J. J. ; Casas, C. ; De la Luna, S. ; Alcantara, S. ; Arbones, M. L. ; Soriano, E. ; Estivill, Xavier P. ; Pritchard, M. / Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. In: European Journal of Human Genetics. 1999 ; Vol. 7, No. 6. pp. 704-712.
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AU - Casas, C.

AU - De la Luna, S.

AU - Alcantara, S.

AU - Arbones, M. L.

AU - Soriano, E.

AU - Estivill, Xavier P.

AU - Pritchard, M.

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