Human Genetics

, Volume 103, Issue 6, pp 674–680

A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1

  • Shigui Zhu
  • D. S. Gerhard
Original investigation

DOI: 10.1007/s004390050890

Cite this article as:
Zhu, S. & Gerhard, D. Hum Genet (1998) 103: 674. doi:10.1007/s004390050890

Abstract

The exon-amplification method was used to identify putative transcribed sequences from an 800-kb region that includes the genes for phospholipase Cβ3 and PYGM on human chromosome 11q13. The clone contig consisted of ten cosmids, three bacterial artificial chromosomes, and one P1 artificial chromosome. A total of 83 exons were generated of which 23 were derived from known genes and expressed sequence tags (ESTs). Five different EST cDNA clones were identified and mapped on the contig. One is a homolog of the human p70S6 kinase (p70s6 k) gene whose function involves the translational regulation of ribosomal protein synthesis and thereby impacts on ribosomal biogenesis. The gene for p70s6 k is expressed universally, including within adipose cells and retina, and it could play a role in Bardet-Biedl syndrome type 1, which has been mapped to 11q13.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Shigui Zhu
    • 1
  • D. S. Gerhard
    • 1
  1. 1.Department of Genetics, Washington University School of Medicine, 4566 Scott Avenue, Box 8232, St. Louis, MO 63110, USA e-mail: gerhard@genetics.wustl.edu, Tel.: +1 314 362 2736, Fax: +1 314 362 7855US

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