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

    July 2021 in “ Genes ”
    Joana G. P. Jacinto, Alysta D. Markey, Inês Berenguer Veiga … Cord Drögemüller
    Studysummary This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 21

    1. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020
    2. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018
    3. An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses Scientific Reports · 2018
    4. Histological and Dermatoscopic Description of Sphynx Cat Skin Veterinary Dermatology · 2014
    5. Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012
    6. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    7. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    8. The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71 Mammalian genome · 2010
    9. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010
    10. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    11. The Molecular Basis of Human Keratin Disorders Human Genetics · 2009
    12. The Hair Follicle as a Dynamic Mini-Organ Current Biology · 2009
    13. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    14. Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71 Rco12 and Krt71 Rco13 Mammalian Genome · 2006
    15. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    16. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    17. Functional Analysis of Keratin Components in the Mouse Hair Follicle Inner Root Sheath British Journal of Dermatology · 2004
    18. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003
    19. K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2003
    20. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    21. A Novel Type II Cytokeratin, mK6irs, Is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath Journal of Investigative Dermatology · 2001

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    2. TRPV3 Gain-of-Function Mutation Impairs Differentiation of Hair Follicle Inner Root Sheath ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2019
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