OMIA 002486-9031 : Frizzle, KRT75L4-related in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Mapping: Dong et al. (2018): "Kirin, a Chinese indigenous chicken breed that originated in the Guangdong province, is famous for its frizzle feathers. The KRT75 gene is considered as the dominant gene responsible for the frizzle trait in several chicken breeds, but this is not the case in the Kirin breed. ... A resource population was produced by crossing Kirin and Huaixiang chickens to produce F1 and F2 generations. DNA samples from 75 frizzle feather and normal feather individuals were sequenced with double-digest genotyping by sequencing (dd-GBS)."

Molecular basis: Dong et al. (2018): "Sanger sequencing was used to screen for mutations in the exons of five genes of this type II α-keratin cluster. A 15-bp deletion in exon 3 of KRT75L4 that showed complete segregation with the frizzle phenotype was detected within the F2 population. Transcriptome sequencing demonstrated that KRT75L4 was expressed but that the transcript was shorter in Kirin than in Huaixiang chickens. In addition, by using Sanger sequencing, we were able to confirm that the deletion was in complete linkage with frizzle feathers."

Chen et al. (2021) identified the same mutation in a different breed: "frizzle feather characteristics were observed in a local breed called Xiushui Yellow Chicken in Jiangxi, China. ... Using a comparative genome strategy and genome-wide association study, a missense mutation ... and a 15-bp deletion ... in KRT75L4 were identified ... . Based on genotyping performed in a large Xiushui Yellow Chicken population, the g.5285437-5285451delGATGCCGGCAGGACG mutation in KRT75L4 was confirmed as the putative causative mutation of frizzle feather."

Breeds: Kirin, Xiushui Yellow.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT75L4 keratin, type II cytoskeletal 75-like 4 Gallus gallus 34 NC_052565.1 (2014937..2022171) KRT75L4 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1398 Kirin Xiushui Yellow Frizzle KRT75L4 deletion, small (<=20) Naturally occurring variant GRCg6a 33 g.5285437-5285451del g.5285437-5285451delGATGCCGGCAGGACG 2018 30572816

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2022 Chen, B., Xi, S., El-Senousey, H.A.K., Zhou, M., Cheng, D., Chen, K., Wan, L., Xiong, T., Liao, M., Liu, S., Mao, H. :
Deletion in KRT75L4 linked to frizzle feather in Xiushui Yellow chickens. Anim Genet 53:101-107, 2022. Pubmed reference: 34904261. DOI: 10.1111/age.13158.
2018 Dong, J., He, C., Wang, Z., Li, Y., Li, S., Tao, L., Chen, J., Li, D., Yang, F., Li, N., Zhang, Q., Zhang, L., Wang, G., Akinyemi, F., Meng, H., Du, B. :
A novel deletion in KRT75L4 mediates the frizzle trait in a Chinese indigenous chicken. Genet Sel Evol 50:68, 2018. Pubmed reference: 30572816. DOI: 10.1186/s12711-018-0441-7.
Guo, X., Li, Y.Q., Wang, M.S., Wang, Z.B., Zhang, Q., Shao, Y., Jiang, R.S., Wang, S., Ma, C.D., Murphy, R.W., Wang, G.Q., Dong, J., Zhang, L., Wu, D.D., Du, B.W., Peng, M.S., Zhang, Y.P. :
A parallel mechanism underlying frizzle in domestic chickens. J Mol Cell Biol 10:589-591, 2018. Pubmed reference: 29868726. DOI: 10.1093/jmcb/mjy037.

Edit History


  • Created by Imke Tammen2 on 22 Dec 2021
  • Changed by Imke Tammen2 on 22 Dec 2021