OMIA:002761-51751 : Skin colour, TFEC-related in Python regius (ball python)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604732 (gene)

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TFEC Transcription factor EC Python regius - no genomic information (-..-) TFEC Ensembl

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
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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002761-51751: 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 Tzika, A.C. :
On the role of TFEC in reptilian coloration. Front Cell Dev Biol 12:1358828, 2024. Pubmed reference: 38385026. DOI: 10.3389/fcell.2024.1358828.
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.

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  • Created by Imke Tammen2 on 31 Aug 2023
  • Changed by Imke Tammen2 on 31 Aug 2023