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Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24‐p21.2 and exclusion of β‐ CATENIN and MLH1
Author(s) -
Eiberg Hans,
Hansen Lars,
Hansen Claus,
Mohr Jan,
Teglbjærg Peter Stubbe,
Kjaer Klaus Wilbrandt
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30568
Subject(s) - biology , genetics , mlh1 , exon , locus (genetics) , gene , candidate gene , intron , genetic linkage , chromosome , dna repair , dna mismatch repair
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; θ M = F = 0.00), with flanking markers D3S2432 (Z = 1.59; θ M = F = 0.08), and D3S3685 (Z = 2.69; θ 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. © 2005 Wiley‐Liss, Inc.