Literature DB >> 10793007

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

R C Betz1, Y A Lee, A Bygum, F Brandrup, A I Bernal, J Toribio, J I Alvarez, G M Kukuk, H H Ibsen, H B Rasmussen, T F Wienker, A Reis, P Propping, R Kruse, S Cichon, M M Nöthen.   

Abstract

Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.

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Year:  2000        PMID: 10793007      PMCID: PMC1378055          DOI: 10.1086/302934

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  15 in total

1.  Hereditary hypotrichosis simplex of the scalp.

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Journal:  Clin Genet       Date:  1987-08       Impact factor: 4.438

2.  Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.

Authors:  H H Ibsen; O J Clemmensen; F Brandrup
Journal:  Acta Derm Venereol       Date:  1991       Impact factor: 4.437

3.  Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.

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Journal:  Br J Dermatol       Date:  1974-12       Impact factor: 9.302

4.  Hereditary hypotrichosis of the scalp.

Authors:  R O Hess; H Uno
Journal:  Am J Med Genet       Date:  1991-05-01

5.  Involvement of a novel Tnf receptor homologue in hair follicle induction.

Authors:  D J Headon; P A Overbeek
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

6.  The genetic basis of alopecia areata: HLA associations with patchy alopecia areata versus alopecia totalis and alopecia universalis.

Authors:  B W Colombe; C D Lou; V H Price
Journal:  J Investig Dermatol Symp Proc       Date:  1999-12

7.  Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.

Authors:  H Winter; M A Rogers; L Langbein; H P Stevens; I M Leigh; C Labrèze; S Roul; A Taieb; T Krieg; J Schweizer
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

8.  Hereditary hypotrichosis simplex of the scalp.

Authors:  E Rodríguez Díaz; G Fernández Blasco; A Martín Pascual; M Armijo
Journal:  Dermatology       Date:  1995       Impact factor: 5.366

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

Review 10.  Tumor necrosis factor ligand superfamily: involvement in the pathology of malignant lymphomas.

Authors:  H J Gruss; S K Dower
Journal:  Blood       Date:  1995-06-15       Impact factor: 22.113

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  11 in total

1.  APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

Authors:  Yutaka Shimomura; Dritan Agalliu; Alin Vonica; Victor Luria; Muhammad Wajid; Alessandra Baumer; Serena Belli; Lynn Petukhova; Albert Schinzel; Ali H Brivanlou; Ben A Barres; Angela M Christiano
Journal:  Nature       Date:  2010-04-15       Impact factor: 49.962

2.  Association analysis of the HLA-C gene in Japanese alopecia areata.

Authors:  Yuko Haida; Shigaku Ikeda; Atsushi Takagi; Etsuko Komiyama; Tomotaka Mabuchi; Akira Ozawa; Jerzy K Kulski; Hidetoshi Inoko; Akira Oka
Journal:  Immunogenetics       Date:  2013-04-16       Impact factor: 2.846

3.  Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Authors:  Lynn Petukhova; Edilson C Sousa; Amalia Martinez-Mir; Anna Vitebsky; Lina G Dos Santos; Lawrence Shapiro; Chad Haynes; Derek Gordon; Yutaka Shimomura; Angela M Christiano
Journal:  Genomics       Date:  2008-09-13       Impact factor: 5.736

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

Authors:  Muhammad Arshad Rafique; Muhammad Ansar; Syed Muhammad Jamal; Sajid Malik; Muhammad Sohail; Mohammad Faiyaz-Ul-Haque; Sayedul Haque; Suzanne M Leal; Wasim Ahmad
Journal:  Eur J Hum Genet       Date:  2003-08       Impact factor: 4.246

Review 5.  [Androgenetic alopecia. Current aspects of a common phenotype].

Authors:  S Hanneken; S Ritzmann; M M Nöthen; R Kruse
Journal:  Hautarzt       Date:  2003-08       Impact factor: 0.751

6.  A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle.

Authors:  Thibaud Kuca; Brandy M Marron; Joana G P Jacinto; Julia M Paris; Christian Gerspach; Jonathan E Beever; Cord Drögemüller
Journal:  Genes (Basel)       Date:  2021-04-26       Impact factor: 4.096

7.  Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.

Authors:  Khalid Al Aboud; Daifullah Al Aboud
Journal:  Dermatol Reports       Date:  2011-08-03

8.  A transcription map of the 6p22.3 reading disability locus identifying candidate genes.

Authors:  Eric R Londin; Haiying Meng; Jeffrey R Gruen
Journal:  BMC Genomics       Date:  2003-06-30       Impact factor: 3.969

9.  Hereditary hypotrichosis simplex of the scalp.

Authors:  Hamideh Moravvej-Farshi; Azin Ayatollahi; Somayeh Hejazi
Journal:  Indian J Dermatol       Date:  2014-11       Impact factor: 1.494

10.  A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle.

Authors:  Joana G P Jacinto; Alysta D Markey; Inês M B Veiga; Julia M Paris; Monika Welle; Jonathan E Beever; Cord Drögemüller
Journal:  Genes (Basel)       Date:  2021-07-04       Impact factor: 4.096

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