An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses

April 2018 in “ Scientific Reports ”

Annika Thomer, Maren Gottschalk, Anna Christmann, Fanny Naccache, Klaus Jung, M. Hewicker-Trautwein, O. Distl, Julia Metzger

KRT25 SP6 curly hair hypotrichosis epistatic effect protein modifying effects

TLDR The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

The 2018 study involving 216 horses discovered that genetic variants in two different genes, KRT25 and SP6, independently affect the development of curly hair in horses. The KRT25 variant was found to cause both curly hair and hypotrichosis (hair loss), while the SP6 variant only resulted in curly hair. Horses with mutations in both genes developed curly hair and hypotrichosis. The study concluded that the KRT25 variant masks the effect of the SP6 variant, a phenomenon known as an epistatic effect. The research also suggested that the development of curly hair is not due to differential gene expression, but rather protein modifying effects.

View this study on nature.com →

Discuss this study in the Community →

Research cited in this study

19 / 19 results

research A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

29 citations , July 2015 in “Journal of Medical Genetics”

A genetic variant in the KRT25 gene causes tightly curled hair.

research Keratin 79 Identifies a Novel Population of Migratory Epithelial Cells That Initiates Hair Canal Morphogenesis and Regeneration

60 citations , November 2013 in “Development”

Keratin 79 marks a new group of cells that are key for creating and repairing the hair follicle's structure.

research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats

40 citations , June 2013 in “Scientific Reports”

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71

75 citations , October 2010 in “Mammalian genome”

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene

45 citations , January 2010 in “Journal of Veterinary Medical Science”

A gene mutation causes curly hair and hair loss in rats.

research The Development of Several Organs and Appendages Is Impaired in Mice Lacking Sp6

32 citations , February 2008 in “Developmental dynamics”

Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament

27 citations , November 2007 in “Genomics”

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

research Three-Dimensional Modelling of Interchain Sequence Similarities and Differences in the Coiled-Coil Segments of Keratin Intermediate Filament Heterodimers Highlight Features Important in Assembly

13 citations , November 2007 in “Journal of Structural Biology”

Keratin heterodimers are preferred for their specific and structural advantages.

research Human Hair Keratin Network And Curvature

85 citations , October 2007 in “International Journal of Dermatology”

Curly hair shape is due to uneven growth patterns in the hair follicle.

research Wnt-Dependent De Novo Hair Follicle Regeneration in Adult Mouse Skin After Wounding

829 citations , May 2007 in “Nature”

Hair follicles can regrow in wounded adult mouse skin using a process like embryo development.

research Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71 Rco12 and Krt71 Rco13

51 citations , December 2006 in “Mammalian Genome”

research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle

93 citations , July 2006 in “Journal of Investigative Dermatology”

K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.

research Stem Cells in the Hair Follicle Bulge Contribute to Wound Repair but Not to Homeostasis of the Epidermis

1279 citations , November 2005 in “Nature Medicine”

research The Krüppel-Like Factor Epiprofin Is Expressed by Epithelium of Developing Teeth, Hair Follicles, and Limb Buds and Promotes Cell Proliferation

88 citations , December 2003 in “Journal of Biological Chemistry”

Epiprofin helps cells grow in developing teeth, hair, and limbs.

research A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

research Structure and Biochemistry of Mammalian Hard Keratin

252 citations , January 1991 in “Electron Microscopy Reviews”

research Electron Microscope Studies of Hair and Wool

191 citations , November 1959 in “Annals of the New York Academy of Sciences”

Hair and wool have complex microscopic structures with microfibrils and varying cystine content.

Similar Research

5 / 682 results

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies

2 citations , August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

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

2 citations , July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

Altered Hair Root Gene Expression Profiles Highlight Calcium Signaling and Lipid Metabolism Pathways Associated With Curly Hair Initiation and Maintenance in Mangalitza Pigs

research Altered Hair Root Gene Expression Profiles Highlight Calcium Signaling and Lipid Metabolism Pathways Associated With Curly Hair Initiation and Maintenance in Mangalitza Pigs

June 2023 in “Frontiers in Genetics”

Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.

Comparative Histomorphometric and Transcriptomic Analysis Reveals Potential Genetic Determinants of Pelage Variation Between Hairy and Coarse-Woolly Sheep

research Comparative Histomorphometric and Transcriptomic Analysis Reveals Potential Genetic Determinants of Pelage Variation Between Hairy and Coarse-Woolly Sheep

November 2025 in “BMC Genomics”

Genetic differences in sheep affect wool type, with fat and immune genes influencing hair traits.

research Sequencing KRT71 as a Candidate Gene for Hair Shape Variation in Dromedary Camels

January 2025 in “Kuwait Journal of Science”

KRT71 gene variants may influence camel hair shape but don't fully explain it.