OMIA:002761-51751 : Skin colour, TFEC-related in Python regius (ball python)
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 604732 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Recessive
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Garcia-Elfring et al. (2023): "investigate the genetic basis of the recessive piebald phenotype, a pattern defect characterized by patches of unpigmented skin (leucoderma). We performed whole-genome sequencing and used a case-control approach to discover a nonsense mutation in the gene encoding the transcription factor tfec, implicating this gene in the leucodermic patches in ball pythons. We functionally validated tfec in a lizard model (Anolis sagrei) using the gene editing CRISPR/Cas9 system and TEM imaging of skin."
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TFEC||Transcription factor EC||Python regius||-||no genomic information (-..-)||TFEC||Ensembl|
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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|
|1619||Skin colour, piebald||TFEC||nonsense (stop-gain)||Naturally occurring variant||c.493C>T||p.(R165*)||Coordinates based on a Python bivittatus assembly||2023||36702128|
Cite this entry
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||Garcia-Elfring, A., Sabin, C.E., Iouchmanov, A.L., Roffey, H.L., Samudra, S.P., Alcala, A.J., Osman, R.S., Lauderdale, J.D., Hendry, A.P., Menke, D.B., Barrett, R.D.H. :|
|Piebaldism and chromatophore development in reptiles are linked to the tfec gene. Curr Biol 33:755-763.e3, 2023. Pubmed reference: 36702128. DOI: 10.1016/j.cub.2023.01.004.|
|Guo, L., Kruglyak, L. :|
|Genetics and biology of coloration in reptiles: The curious case of the Lemon Frost geckos. Physiol Genomics , 2023. Pubmed reference: 37642275. DOI: 10.1152/physiolgenomics.00015.2023.|
- Created by Imke Tammen2 on 31 Aug 2023
- Changed by Imke Tammen2 on 31 Aug 2023