OMIA:001313-9685 : Hair morphology, glitter in Felis catus (domestic cat) |
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: Renamed from "Coat colour, glitter" [07/04/2024]
Species-specific description: Glitter is a coat condition that softens hair texture and causes an iridescent sheen to the coat.
Mapping: Kaelin et al. (2024) conducted “a case-control GWAS for glitter. From photographs submitted with DNA samples, [the authors] could confidently distinguish 359 glitter and 179 non-glitter individuals among cats genotyped by lcWGS-based imputation and 144 glitter and 82 non-glitter individuals among cats genotyped by RAD-seq. Both datasets identified a broad, 2.47-Mb association interval (chrD2: 77,904,283–80,383,333) … .”
Molecular basis: Kaelin et al. (2024) “discovered a 585-bp cat-specific Endogenous Retroviral Long Terminal Repeat (ERV1-3_FCa-type LTR) element insertion that was a strong candidate … . The LTR insertion site (chrD2: 79,707,475–79,707,478, felCat9) is defined by a 4-bp flanking direct repeat that is situated 287-bp upstream of an evolutionarily conserved Fgfr2 super-enhancer (Khan and Zhang 2014). Among 57 domestic cats for whom high-coverage WGS was available, the LTR insertion was only present in Bengal cats and two additional breeds, Egyptian Mau and Toyger, in which glitter was introduced through shared ancestry with a Bengal cat progenitor.”
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breeds:
Bengal (Cat) (VBO_0100040),
Egyptian Mau (Cat) (VBO_0100090),
Toyger (Cat) (VBO_0100245).
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 |
|---|---|---|---|---|---|---|
| FGFR2 | fibroblast growth factor receptor 2 | Felis catus | D2 | NC_058378.1 (77547909..77438134) | FGFR2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1675 | Bengal (Cat) Egyptian Mau (Cat) Toyger (Cat) | Coat texture, glitter | FGFR2 | insertion, gross (>20) | Naturally occurring variant | Felis_catus_9.0 | D2 | g.79707475_79,707,478insN[585] | a 585-bp cat-specific Endogenous Retroviral Long Terminal Repeat (ERV1-3_FCa-type LTR) element insertion | 2024 | 38531359 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001313-9685: 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 | Kaelin, C.B., McGowan, K.A., Hutcherson, A.D., Delay, J.M., Li, J.H., Kiener, S., Jagannathan, V., Leeb, T., Murphy, W.J., Barsh, G.S. : |
| Ancestry dynamics and trait selection in a designer cat breed. Curr Biol :S0960-9822(24)00304-X, 2024. Pubmed reference: 38531359. DOI: 10.1016/j.cub.2024.02.075. | |
| 2016 | Khan, A., Zhang, X. : |
| dbSUPER: a database of super-enhancers in mouse and human genome. Nucleic Acids Res 44:D164-71, 2016. Pubmed reference: 26438538. DOI: 10.1093/nar/gkv1002. | |
| 1999 | Binns, K.E., Tuhela-Reuning, L. : |
| A scanning electron microscopy study of glitter coat trait in the fur of the Bengal cat breed Scanning 21:150-151, 1999. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 20 Aug 2020
- Changed by Imke Tammen2 on 07 Apr 2024