title: Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.
abstract: The testis-expressed human TPTE is a putative transmembrane tyrosine phosphatase, probably involved in signal transduction pathways of the endocrine and/or the spermatogenetic function of the testis. TPTE was mapped to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. It is unknown which of the TPTE copies are transcribed, contain intronic sequences, and/or have open reading frames. Here, in silico analysis of the genomic sequence of human chromosome 21 allowed the determination of the genomic structure of a copy of the TPTE gene. This copy consists of 24 exons and spans approximately 87 kb. The mapping position of this copy of TPTE on the short arm of chromosome 21 was confirmed by FISH using the BAC 15L0C0 clone as a probe that contains almost the entire TPTE gene. This is the first description of the genomic sequence of a non-RNR gene on the short arm of human acrocentric chromosomes.
authors.affiliation: Division of Medical Genetics, University of Geneva Medical School, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Guipponi
authors.forename: M L
authors.initials: ML
authors.lastname: Yaspo
authors.forename: L
authors.initials: L
authors.lastname: Riesselman
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: De Sario
authors.forename: G
authors.initials: G
authors.lastname: Roizès
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D005091:Exons; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D007621:Karyotyping; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics; D008969:Molecular Sequence Data; D008970:Molecular Weight; D017027:Protein Tyrosine Phosphatases / Q000737:chemistry / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D000070876:Tensins
chemical_list: D008565:Membrane Proteins; D008840:Microfilament Proteins; D000070876:Tensins; D017027:Protein Tyrosine Phosphatases