TY - JOUR
T1 - Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of β-Catenin and MLH1
AU - Eiberg, Hans
AU - Hansen, Lars
AU - Hansen, Claus
AU - Mohr, Jan
AU - Teglbjærg, Peter Stubbe
AU - Kjaer, Klaus Wilbrandt
PY - 2005/2/15
Y1 - 2005/2/15
N2 - 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; θM = F = 0.00), with flanking markers D3S2432 (Z = 1.59; θM = F = 0.08), and D3S3685 (Z = 2.69; θM = 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.
AB - 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; θM = F = 0.00), with flanking markers D3S2432 (Z = 1.59; θM = F = 0.08), and D3S3685 (Z = 2.69; θM = 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.
KW - Chromosome 3
KW - Pilar cyst
KW - Trichilemmal cyst
UR - http://www.scopus.com/inward/record.url?scp=12944335173&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30568
DO - 10.1002/ajmg.a.30568
M3 - Journal article
C2 - 15637721
AN - SCOPUS:12944335173
SN - 1552-4825
VL - 133 A
SP - 44
EP - 47
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -