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.
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Authors | Hans Eiberg, Lars Hansen, Claus Hansen, Jan Mohr, Peter Stubbe Teglbjaerg, Klaus Wilbrandt Kjaer |
Journal | American 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 |
PMID | 15637721
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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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
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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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