Linkage analysis of genes involved in human hereditary hair loss disorder
Paper Details
Linkage analysis of genes involved in human hereditary hair loss disorder
Abstract
Hair can be observed at different levels, its structure and function can be modified by its constituent molecules, especially proteins, but sometimes hair follicles can also be genetically altered. Damage to the hair follicle life cycle affects the structure and morphology of the hair. Hypotrichosis is a heterogeneous group of hereditary offenses that pass from one generation to the next in both dominant and recessive forms. Hypotrichosis manifests itself in both symptomatic and non-syndromic forms, exhibiting a broad phenotype. The phenotype ranges from sparse to completely scalp free. Manes, pubic hairs, eyebrows and eyelashes are also affected to varying degrees in different forms of hair. These hairs are present in different parts of the body’s roots, forming organized, multi-layered, regenerative and epidermal appendages called hair follicles. . Any mutation in a gene known to be involved in hair follicle development and hair cycle is a causative agent of hereditary hypotrichosis. So far, 7 sites of non-syndromic autosomal dominant hypotrichosis and 8 sites of non-syndromic autosomal recessive hypotrichosis have been localized on different autosomes. Syndromic forms of hereditary hypotrichosis are known to have varying degrees of abnormality.In this study, a family from the region Karak was described as having a non-syndromic autosomal recessive form. A homozygous mapping study using highly polymorphic microsatellite markers established a linkage between the family and the LPAR6 gene located on chromosomes 13q14.11-21.32.DNA sequence analysis using the LPAR6 gene revealed that G replaced A, at nucleotide 436 (c.436G>A, p.Gly146Arg) was derived from (A) control individuals.
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E. 2006. “An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis”. J Invest Dermatol.
Wali A. 2007a. “Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q 21.32”, Clinical Genetics, 72, 23.
Panteleyev AA, Botchkareva NV, Sundberg JP, Christiano AM, Paus R. 1999. “The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation”, American Journal of Pathology 155, 159.
Ali G, Chishti MS, Raza SI, John P, Ahmad W. 2007. “A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis”, Human Genetics 121, 319.
JC Vary Jr. November 2015.”Selected Disorders of Skin Appendages–Acne, Alopecia, Hyperhidrosis”. The Medical clinics of North America.
Yang J, Liang Y, Zeng K, Huang L, Zheng M. 2014. “Marie Unna hereditary hypotrichosis: a recurrent c.74C > T mutation in the U2HR gene and literature review” International Journal of Dermatology 53, 206.
Yanagida K, Masago K, Nakanishi H, Kihara Y, Hamano F, Tajima Y, Taguchi R, Shimizu T, Ishii S. 2009.“Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6”. J Biol Chem.
McElwee KJ, Shapiro JS. 2012.”Promising therapies for treating and/or preventing androgenic alopecia”. Skin therapy letter 17(6).
Leavitt M. 2008. “Understanding and Management of Female Pattern Alopecia”. Facial Plastic Surgery. 24(4), 414–427. PMID 19034818. http://dx.doi.org/10.1055/s-0028-1102905.
Farooq M, Ito M, Naito M, Shimomura Y. 2011. “A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene”. Br J Dermatol.
Wajid M, Bazzi H, Rockey J. 2007. “Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family”, Journal of Investigative Dermatology, 127, 1779.
Kurban M, Wajid M, Shimomura Y, Christiano AM. 2013. “Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis”.JEur Acad Dermatol Venereol. May 27(5), 545-9. 2012 Mar 5.
Ayub M, Basit S, Jelani M. 2009. “A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles”, American Journal of Human Genetics 85, 515.
Nalluri R, Harries M. 2016.”Alopecia in general medicine”. Clinical Medicine. 16(1), 74–8.
Khan S, Habib R, Mir H. 2011, “Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan” Clinical and Experimental Dermatology 36(6), 652.
Duzenli S, Redler S, Muller M. 2009, “Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis” Clinical and Experimental Dermatology 34, 953.
Pasternack SM, Von Kügelgen I, Al Aboud K, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC. 2008 “G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth”. Nat Genet.
Ralevic V, Burnstock G. 1998. “Receptors for purines and pyrimidines”.Pharmacol Rev.
Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. 2008. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet.
Hafeezul Haq, Amir Atlas, Bilal Abbas, Arshad Abbas, Nargis Jamila, Muhammad Rehman, Hameed Ur Rehman, Ali Nawaz, Hazrat Usman, 2018. Linkage analysis of genes involved in human hereditary hair loss disorder. J. Biodiv. Environ. Sci., 13(6), 32-39.
Copyright © 2018 by the Authors. This article is an open access article and distributed under the terms and conditions of the Creative Commons Attribution 4.0 (CC BY 4.0) license.