Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3 |
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| Authors: | Haiming Chen Constantin Bouras Stylianos E Antonarakis |
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| Institution: | (1) Laboratory of Human Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School, Geneva, Switzerland, CH;(2) Department of Neuropsychiatry, Geneva University Hospitals, Geneva, Switzerland, CH;(3) Division of Medical Genetics, Cantonal Hospital, Geneva, Switzerland, CH;(4) Division de Genetique Medicale, Centre Medical Universitaire, 1 rue Michel Servet, CH-1211 Geneva, Switzerland Tel.: +41-22-7025707; Fax: +41-22-7025706; E-mail sea@medsun.unige.ch, CH |
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| Abstract: | Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc18h10 (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.
Received: 3 May 1996 / Revised: 2 July 1996 |
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