Mammalian Genome

, Volume 7, Issue 9, pp 686–690

Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for α-N-acetylglucosaminidase with two cDNA isoforms

Authors

  • Z. Zhao
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Howard Hughes Medical InstituteBaylor College of Medicine
  • A. Yazdani
    • Department of MedicineBaylor College of Medicine
    • Department of Internal Medicine, Division of Gastroenterology
  • Y. Shen
    • Human Genome CenterBaylor College of Medicine
  • Z. -S. Sun
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Clayton Foundation for ResearchBaylor College of Medicine
  • J. Bailey
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • C. T. Caskey
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Howard Hughes Medical InstituteBaylor College of Medicine
  • C. -C. Lee
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Clayton Foundation for ResearchBaylor College of Medicine
Original Contribution

DOI: 10.1007/s003359900206

Cite this article as:
Zhao, Z., Yazdani, A., Shen, Y. et al. Mammalian Genome (1996) 7: 686. doi:10.1007/s003359900206

Abstract

A cosmid mapped to human Chromosome (Chr) 17q21, c140c10, was found to contain a CpG island. We completed the sequence analysis of cl40cl0 because of two considerations: the cosmid contained an STS from the 17-β-hydroxysteroid dehydrogenase gene (17-HSD), which was believed to be a neighbor of the breast cancer susceptibility gene, BRCA1; CpG islands are usually associated downstream and/or upstream of human genes. Computer-based exon trapping of the cosmid sequence revealed putative additional exons. With two of those exons used as a probe to screen human placental cDNA libraries, two cDNA isoforms for a novel gene, designated as ufHSD, were isolated. The amino acid sequence of the open reading frames of the cDNA showed no significant homology to any protein in the data base. However, it is possible that our cDNAs are from the gene for α-acetylglucosaminidase, which has recently been localized to the same region. Northern analyses show that the major isoform is expressed in all tissues tested, with the highest expression in blood leukocytes and lowest in brain. Finally, our study has shown that the 46.7-kb cosmid c140c10 encompasses loci for five genes and pseudo-genes: ΨTP4A, ufHSD, 17-HSDI, 17-HSDII, and 22A1. Correspondence to: Z. Zhao at

Download to read the full article text

Copyright information

© Springer-Verlag 1996