A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3

Betz, Regina C.; Lee, Youngae; Bygum, Anette; Brandrup, Flemming; Bernal, Ana I.; Toribio, Jaime; Alvarez, J; Kukuk, Guido; Ibsen, Hans; Rasmussen, H. Boje; Wienker, Thomas F.; Reis, André; Propping, Peter; Kruse, Roland; Cichon, Sven; Nöthen, Markus M.

doi:10.1086/302934

Cited by 46 publications

(43 citation statements)

References 16 publications

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“…Hypotrichosis simplex (MIM 146520) can affect all body hair or be limited to the scalp. 5,6 The locus for hypotrichosis simplex (HSS) was mapped to chromosome 6p21.3. 6 Marie Unna hereditary hypotrichosis (MUHH) 7,8 (MIM 146550) is distinguished from hypotrichosis simplex by the presence of a twisting hair dystrophy.…”

Section: Introductionmentioning

confidence: 99%

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A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

et al. 2003

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Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (h ¼ 0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

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Section: Introductionmentioning

confidence: 99%

“…5,6 The locus for hypotrichosis simplex (HSS) was mapped to chromosome 6p21.3. 6 Marie Unna hereditary hypotrichosis (MUHH) 7,8 (MIM 146550) is distinguished from hypotrichosis simplex by the presence of a twisting hair dystrophy. This form of hypotrichosis is characterized by loss of hair on the scalp, eyebrows, eyelashes, and body.…”

Section: Introductionmentioning

confidence: 99%

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

et al. 2003

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“…Increasingly, large insert clone contig maps and more regional markers have localized traits to broad areas even within the MHC, including telomeric to the traditional human leukocyte antigen (HLA) class I region, corresponding to 6p21.3-6p22 of the cytogenetic map. Using these resources, a gene for hemochromatosis (HFE) (Feder et al 1996) and risk loci for Behçet's disease (Gül et al 2001), inflammatory bowel disease (IBD3) (Cho 2000;Dechairo et al 2001), hypotrichosis simplex (HSS) (Betz et al 2000), insulin dependent diabetes mellitus (IDDM) (Lie et al 1999a(Lie et al , 1999b, attention deficit hyperactivity disorder (ADHD) (Barr et al 2001), and reading disability (DYX2) (Kaplan et al 2002), have all been mapped to this telomeric region. Yet, precise localization of these loci, as delineated by recombination breakpoints or by peaks of linkage disequilibrium, requires an even higher density of markers, and greater accuracy in intermarker distances and order than currently available through the public domain servers.…”

Section: Introductionmentioning

confidence: 99%

A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression

Ahn¹,

Won²,

Kaplan

et al. 2002

Human Genetics

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Loci for several complex disorders have been genetically linked to markers located telomeric of the HLA class I region of the major histocompatibility complex on 6p21.3-22. However, this same region has been characterized by a large interval of recombination suppression with the potential to greatly complicate precise localization of these risk loci. Furthermore, a paucity of markers and physical mapping data has confounded precise localization of the boundaries of linkage and recombination suppression. In order to create a more detailed marker map of this region and define these boundaries we generated a minimal tiling pathway of BACs, PACs, and cosmids and a multiplexed panel of 29 short tandem repeat markers spanning 10 Mb. In addition to providing precise marker order and distances, the pathway and marker panel frame an inversion of recombination frequency that has distorted the resolution of linkage studies for 6p loci such as reading disability and others, and that should be accounted for in the design of future studies.

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“…Additionally, the mutations of two hair cortex keratin genes hHb1 and hHb6 localized on chromosome 12q13 could cause the inherited hair disease monilethrix (Winter et al, 1997a, b). The hypotrichosis simplex of the scalp (HTSS, OMIM: #146520) can be caused by mutation in the CDSN gene (Betz et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3

Yang

Gao

Cui

et al. 2005

Journal of Investigative Dermatology

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Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. A locus for this disorder was localized to chromosome 8p, but no gene responsible for it has been identified. To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH. We performed a genome-wide scan in this family. Two-point linkage analysis was performed using Linkage programs version 5.10 software and haplotype was constructed with Cyrillic Version 2.02 software. We failed to confirm the previous locus for MUHH at chromosome 8p and obtained the conformed evidence for linkage at chromosome 1. Two-point logarithm of odds ratio scores > or =3 were observed at markers D1S2746 and D1S2881. Haplotype analysis localized this locus to a 42 Mb region. The previous results and this study have shown that MUHH is a genetically heterogeneous disorder. Our family was mapped to a 17.5 cM region between markers D1S248 and D1S2345.

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A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3

Cited by 46 publications

References 16 publications

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3

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