High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22

Genomics. 2000 Jul 1;67(1):96-101. doi: 10.1006/geno.2000.6232.

Abstract

Vascular anomalies are congenital lesions that usually occur sporadically, but can be inherited. Previously, we have described that venous malformations, localized bluish-purple skin lesions, are caused by an activating mutation in the TIE2/TEK receptor. Moreover, we mapped another locus to chromosome 1p21-p22, for venous malformations with glomus cells (VM-GLOM). Here we report a physical map, based on 18 overlapping YAC clones, spanning this 5-Mb VMGLOM locus, from marker GATA63C06 to D1S2664. In addition, we report a sequence-ready PAC map of 46 clones covering 1.48 Mb within the YAC contig, a region to which we have restricted VMGLOM. We describe 21 new STSs and nine novel CA repeats, seven of which are polymorphic. These data will enable positional cloning of genes for diseases mapped to this locus, including the VMGLOM gene, likely a currently unknown regulator of vasculogenesis and/or angiogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosomes, Artificial / genetics*
  • Chromosomes, Human, Pair 1 / genetics*
  • Contig Mapping
  • Gene Expression Profiling
  • Genetic Linkage
  • Genetic Markers
  • Glomus Tumor / genetics*
  • Glomus Tumor / pathology
  • Humans
  • Physical Chromosome Mapping
  • Polymorphism, Genetic
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • Genetic Markers