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

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

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Title		Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3
Authors		Chen, H. Bouras, Constantin Antonarakis, Stylianos
Published in		Human Genetics. 1996, vol. 98, no. 6, p. 672-677
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
Identifiers		PMID: 8931698
Full text		Article - Limited access to UNIGE Other version: http://www.springerlink.com/content/c5ap303jxyy6m5a8/fulltext.pdf
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine interne des spécialités
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. https://archive-ouverte.unige.ch/unige:8674