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Scientific article
English

Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3

Contributors

Chen, H.; Bouras, Constantin; Antonarakis, Stylianos

Published in

Human genetics, vol. 98, no. 6, p. 672-677

Publication date

1996

Abstract

Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc 18h10 (GenBank no. X88329), showed homology to a sequence (GenBank no. S65225) that includes the first three codons of the rat PEP-19 gene and 5' untranslated leader region. We have cloned the corresponding cDNA for a human homolog of the rat PEP-19 gene and mapped it to the region between markers ERG and D21S56 of chromosome 21q22.2-q22.3. Rat PEP-19 is a neuron-specific polypeptide expressed in several regions of the central nervous system. It serves as a cell-specific marker in Purkinje cells and its expression is developmentally regulated in the cerebellum, but its precise function is unknown. It is also presently unknown whether overexpression of the PEP-19 gene is involved in certain phenotypes of Down syndrome.

Keywords

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21
  • Exons
  • Humans
  • Molecular Sequence Data
  • Nerve Tissue Proteins/ genetics
  • Rats
  • Sequence Alignment

UNIGE affiliation entities

Citation (ISO format)

CHEN, H., BOURAS, Constantin, ANTONARAKIS, Stylianos. Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3. In: Human genetics, 1996, vol. 98, n° 6, p. 672–677.

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Additional URL for this publication

http://www.springerlink.com/content/c5ap303jxyy6m5a8/fulltext.pdf

Journal ISSN

0340-6717
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