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

Hans Eiberg; Lars Hansen; Claus Hansen; Jan Mohr; Peter Stubbe Teglbjærg; Klaus Wilbrandt Kjaer

doi:10.1002/ajmg.a.30568

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

Hans Eiberg, Lars Hansen, Claus Hansen, Jan Mohr, Peter Stubbe Teglbjærg, Klaus Wilbrandt Kjaer^*

^*Corresponding author for this work

17 Citations (Scopus)

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; 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.

Original language	English
Journal	American Journal of Medical Genetics
Volume	133 A
Issue number	1
Pages (from-to)	44-47
Number of pages	4
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.30568
Publication status	Published - 15 Feb 2005

Keywords

Chromosome 3
Pilar cyst
Trichilemmal cyst

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title = "Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of β-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; 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.",

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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

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M3 - Journal article

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SN - 1552-4825

VL - 133 A

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JO - American Journal of Medical Genetics, Part A

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ER -

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

Abstract

Keywords

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