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Transcription map of the tuberous sclerosis complex I candidate region in human chromosome segment 9q34

Journal Article · · American Journal of Human Genetics
OSTI ID:133391
; ;  [1]
  1. Massachusetts General Hospital, Boston, MA (United States); and others

A high resolution and transcription map of the tuberous sclerosis (TSCI) region on human chromosome 9 has been constructed between the polymorphic dinucleotide markers DBH and D9S114. This 600 kb region was originally thought to be 2 Mb which is much less than expected given a genetic distance of 4 cM. A minimum of three YACs from the flow-sorted human chromosome 9 library and two cosmids span this distance. Each YAC was used to identify cosmids from the flow-sorted human chromosome 9 cosmid libraries from Los Alamos National Laboratories and Lawrence Livermore National Laboratories. All cosmids were then subjected to exon amplification, and the resulting exons mapped back to the cosmids and YACs. Fifty exons, 25 sequence tagged sites which include YAC ends and four simple sequence repeats were used to order the map creating a marker every 5-10 Kb. Exons were also used to obtain cDNAs. Two genes with interesting similarity to known sequences were mapped in this region. One 2.7 Kb cDNA that detected a 5.5 Kb transcript on a Northern has homology to a tumor suppressor gene. The other 2.3 Kb cDNA detected a 7 Kb transcript with Northern analysis. This previously unmapped cDNA has sequence similarity to a homeobox gene. Both transcripts are excellent candidate genes for TSCI.

OSTI ID:
133391
Report Number(s):
CONF-941009--
Journal Information:
American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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