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Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1.

Abstract
Trichilemmal cysts (also named pilar cyst) derived from the outer root sheath of the deeper parts of the hair follicle can segregate dominantly, and are caused by a yet unknown gene. In order to identify candidate genes for this trait we have ascertained a Danish family with 38 persons (11 affected), and carried out a genome wide scan with 580 DNA micro-satellite markers to identify the locus for a gene, which we termed TRICY1 (for trichilemmal cysts). We found tight linkage to D3S1277 (Z = 4.63; theta(M = F) = 0.00), with flanking markers D3S2432 (Z = 1.59; theta(M = F) = 0.08), and D3S3685 (Z = 2.69; theta(M = F) = 0.08) spanning 10.3 Mb on chromosome 3p24-p21.2. We sequenced two candidate genes previously reported in inherited hair defects, CTNNB1 and MLH1 but failed to detect mutations in exons and intron-exon bounders.
AuthorsHans Eiberg, Lars Hansen, Claus Hansen, Jan Mohr, Peter Stubbe Teglbjaerg, Klaus Wilbrandt Kjaer
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 133A Issue 1 Pg. 44-7 (Feb 15 2005) ISSN: 1552-4825 [Print] United States
PMID15637721 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright(c) 2005 Wiley-Liss, Inc.
Chemical References
  • Adaptor Proteins, Signal Transducing
  • CTNNB1 protein, human
  • Carrier Proteins
  • Cytoskeletal Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Trans-Activators
  • beta Catenin
  • MutL Protein Homolog 1
Topics
  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 (genetics)
  • Cytoskeletal Proteins (genetics)
  • DNA Mutational Analysis
  • Denmark
  • Epidermal Cyst (genetics, pathology)
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease (genetics)
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • MutL Protein Homolog 1
  • Neoplasm Proteins (genetics)
  • Nuclear Proteins
  • Pedigree
  • Scalp (pathology)
  • Trans-Activators (genetics)
  • beta Catenin

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