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Scientific article
Open access
English

Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21

Published inHuman genetics, vol. 107, no. 2, p. 127-131
Collection
  • Open Access - Licence nationale Springer
Publication date2000
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.

Keywords
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21
  • Exons
  • Genome, Human
  • Humans
  • In Situ Hybridization, Fluorescence
  • Introns
  • Karyotyping
  • Membrane Proteins/chemistry/ genetics
  • Microfilament Proteins/chemistry/genetics
  • Molecular Sequence Data
  • Molecular Weight
  • Protein Tyrosine Phosphatases/chemistry/ genetics
  • Sequence Homology, Amino Acid
Citation (ISO format)
GUIPPONI, Michel et al. Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21. In: Human genetics, 2000, vol. 107, n° 2, p. 127–131. doi: 10.1007/s004390000343
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Article (Published version)
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ISSN of the journal0340-6717
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