OMIA:000439-9986 : Hair, long in Oryctolagus cuniculus (rabbit)

In other species: dog , domestic cat , ass (donkey) , Arabian camel , llama , taurine cattle , goat , sheep , golden hamster , domestic guinea pig , domestic yak , alpaca

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 190330 (trait) , 165190 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Long hair = angora

Species-specific symbol: l

Species-specific description: See Robinson (1958, pp. 292-297).

Mapping: Mulsant et al. (2004) reported linkage between angora and FGF5. Chantry-Darmon et al. (2006) constructed a genetic map with cytogenetically mapped microsatellites and verified the mapping of angora to chromosome 15q. Fatima et al. (2023) "whole-genomic resequencing of long-haired rabbits (Angora rabbits) and short-haired rabbits (Rex and New Zealand rabbits) was performed. ...By genome-wide selective sweeping analysis based on population comparison, we identified a total of 5.85 Mb regions (containing 174 candidate genes) with strong selection signals. Six of these genes (Dusp1, Ihh, Fam134a, Map3k1, Spata16, and Fgf5) were enriched in the MAPK signalling and Hedgehog signalling pathways, both of which are closely associated with hair growth regulation. Among these genes, Fgf5 encodes the FGF5 protein, which is a well-established regulator of hair growth."

Molecular basis: Fatima et al. (2023) "discovered that the homozygous missense mutation T19234C within Fgf5 might contribute to the long-hair trait of Angora rabbits by reducing its receptor binding capacity."

Breed: Angora (Rabbit) (VBO_0001228).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FGF5 fibroblast growth factor 5 Oryctolagus cuniculus 15 NC_067388.1 (67027220..67005633) FGF5 Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Year Published PubMed ID(s) Acknowledgements
1575 Angora (Rabbit) Hair, long FGF5 missense Naturally occurring variant OryCun2.0 15 g.70103616A>G c.571T>C p.(L191S) XM_008267686.2; XP_008265908.1; published as c.T19234C in exon 2; coordinates in this table are based on a recent reference genome 2023 37268908

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000439-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2024 Xie, K., Ning, C., Yang, A., Zhang, Q., Wang, D., Fan, X. :
Resequencing analyses revealed genetic diversity and selection signatures during rabbit breeding and improvement. Genes (Basel) 15:433, 2024. Pubmed reference: 38674368. DOI: 10.3390/genes15040433.
2023 Fatima, N., Jia, L., Liu, B., Li, L., Bai, L., Wang, W., Zhao, S., Wang, R., Liu, E. :
A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits. BMC Genomics 24:298, 2023. Pubmed reference: 37268908. DOI: 10.1186/s12864-023-09405-2.
2021 Dorożyńska, K., Maj, D. :
Rabbits - their domestication and molecular genetics of hair coat development and quality. Anim Genet 52:10-20, 2021. Pubmed reference: 33216407. DOI: 10.1111/age.13024.
2020 Ding, H., Cheng, G., Leng, J., Yang, Y., Zhao, X., Wang, X., Qi, Y., Huang, D., Zhao, H. :
Analysis of histological and microRNA profiles changes in rabbit skin development. Sci Rep 10:454, 2020. Pubmed reference: 31949201. DOI: 10.1038/s41598-019-57327-5.
Liang, S., Bao, Z., Zhao, B., Zhou, T., Li, J., Liu, M., Hu, S., Yang, N., Chen, Y., Wu, X. :
Characterization and functional analysis of Krtap11-1 during hair follicle development in Angora rabbits (Oryctolagus cuniculus). Genes Genomics 42:1281-1290, 2020. Pubmed reference: 32955717. DOI: 10.1007/s13258-020-00995-9.
Zhao, B., Chen, Y., Hu, S., Yang, N., Liu, M., Li, J., Bao, Z., Wu, X. :
Characterization of HTATIP2 and its role during hair follicle cycles in Angora rabbit. Genome 63:179-187, 2020. Pubmed reference: 31917611. DOI: 10.1139/gen-2019-0132.
2019 Ding, H., Zhao, H., Cheng, G., Yang, Y., Wang, X., Zhao, X., Qi, Y., Huang, D. :
Analyses of histological and transcriptome differences in the skin of short-hair and long-hair rabbits. BMC Genomics 20:140, 2019. Pubmed reference: 30770723. DOI: 10.1186/s12864-019-5503-x.
Zhang, J., Cui, C., Xu, H. :
Downregulation of miR-145-5p elevates retinal ganglion cell survival to delay diabetic retinopathy progress by targeting FGF5. Biosci Biotechnol Biochem 83:1655-1662, 2019. Pubmed reference: 31272285. DOI: 10.1080/09168451.2019.1630251.
2018 Chen, Y., Zhao, B., Liu, M., Wang, J., Qiu, X., Zhu, C., Wu, X. :
MicroRNAs Profiling Identifies miR-125a and Its Target Gene Wnt2 in Skins of Different Haired Rabbits. Front Genet 9:628, 2018. Pubmed reference: 30619457. DOI: 10.3389/fgene.2018.00628.
2010 Allain, D., Renieri, C. :
Genetics of fibre production and fleece characteristics in small ruminants, Angora rabbit and South American camelids. Animal 4:1472-81, 2010. Pubmed reference: 22444694. DOI: 10.1017/S1751731110000029.
2009 Rafat, S.A., Allain, D., de Rochambeau, H. :
Genetic description of a divergent selection experiment in Angora rabbits with overlapping generations. J Anim Breed Genet 126:189-97, 2009. Pubmed reference: 19646147. DOI: 10.1111/j.1439-0388.2008.00769.x.
2007 Rafat, S.A., de Rochambeau, H., Brims, M., Thébault, R.G., Deretz, S., Bonnet, M., Allain, D. :
Characteristics of Angora rabbit fiber using optical fiber diameter analyzer. J Anim Sci 85:3116-22, 2007. Pubmed reference: 17644779. DOI: 10.2527/jas.2007-0109.
2006 Chantry-Darmon, C., Urien, C., de Rochambeau, H., Allain, D., Pena, B., Hayes, H., Grohs, C., Cribiu, E.P., Deretz-Picoulet, S., Larzul, C., Save, J.C., Neau, A., Chardon, P., Rogel-Gaillard, C. :
A first-generation microsatellite-based integrated genetic and cytogenetic map for the European rabbit (Oryctolagus cuniculus) and localization of angora and albino. Anim Genet 37:335-41, 2006. Pubmed reference: 16879342. DOI: 10.1111/j.1365-2052.2006.01462.x.
2004 Mulsant, P., Rochambeau, H., Thébault, R. :
A note on linkage between the Angora and Fgf5 genes in rabbits. World Rabbit Science 12:1-6, 2004.
2001 Van den Broeck, W., Mortier, P., Simoens, P. :
Scanning electron microscopic study of different hair types in various breeds of rabbits. Folia Morphol (Warsz) 60:33-40, 2001. Pubmed reference: 11234696.
2000 van Schaik, J.J. :
[Some misunderstandings about the angora rabbit]. Tijdschr Diergeneeskd 125:620, 2000. Pubmed reference: 11060929.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1924 Castle, W.E. :
Linkage of Dutch, English, and Angora in Rabbits. Proc Natl Acad Sci U S A 10:107-8, 1924. Pubmed reference: 16576789.
1905 Punnett, R.C. :
Mendelism. Macmillan and Bowes, Cambridge , 1905.
1903 Castle, W.E. :
The heredity of 'Angora' coat in mammals. Science 18:760-761, 1903. Pubmed reference: 17844480. DOI: 10.1126/science.18.467.760.b.

Edit History


  • Created by Frank Nicholas on 01 Jul 2013
  • Changed by Frank Nicholas on 29 Apr 2016
  • Changed by Imke Tammen2 on 26 Oct 2021
  • Changed by Imke Tammen2 on 04 Jun 2023
  • Changed by Imke Tammen2 on 15 Nov 2023