Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34

Eur J Hum Genet. 1995;3(2):78-86. doi: 10.1159/000472280.


Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). The TSC2 gene has recently been isolated, while the TSC1 gene has been mapped to a 5-cM region between the markers D9S149 and D9S114. In our effort to localise and clone TSC1, we have obtained three adjacent cosmid contigs that cover the core of the candidate region. The three contigs comprise approximately 600 kb and include 80 cosmids, 2 P1 clones, 1 YAC, 5 anonymous markers and 4 sequence-tagged sites. The ABO blood group locus, the Surfeit gene cluster, the dopamine beta-hydroxylase gene (DBH) and VAV2, a homologue of the vav oncogene, have all been mapped within the contigs. Exon trapping and mutation screening experiments, aimed at identifying the TSC1 gene, are currently in progress.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bacteriophage P1 / genetics
  • Base Sequence
  • Chromosome Walking
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 9*
  • Cosmids / genetics*
  • Dopamine beta-Hydroxylase / genetics
  • Genetic Markers
  • Humans
  • Membrane Proteins / genetics
  • Molecular Sequence Data
  • Oncogene Proteins / genetics
  • Polymorphism, Restriction Fragment Length
  • Proteins / genetics*
  • Proto-Oncogene Proteins c-vav
  • Restriction Mapping
  • Sequence Tagged Sites
  • Tuberous Sclerosis / genetics*


  • Genetic Markers
  • Membrane Proteins
  • Oncogene Proteins
  • Proteins
  • Proto-Oncogene Proteins c-vav
  • SURF4 protein, human
  • VAV2 protein, human
  • Dopamine beta-Hydroxylase