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
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 190330 (trait) , 165190 (gene)
Links to MONDO diseases:
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."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
Angora (Rabbit) (VBO_0001228).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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.
| 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