OMIA:002543-9031 : Cleft primary palate, ESRP2-related in Gallus gallus
Categories: Digestive / alimentary phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 612960 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific symbol: cpp
History: Youngworth and Delany (2020): "The [cpp] mutation was first described under the name ectrodactyly (ec) and arose in a line carrying another autosomal recessive mutation named scaleless (sc). The homozygous sc mutation, as its name implies, results in absence of scales, as well as foot pads, spurs and most feather follicles, but otherwise does not cause craniofacial or limb defects. (Abbott & MacCabe 1966). The double sc/ec mutants were observed with these sc defects as well as an absent upper palate and abnormal hindlimbs (Abbott & MacCabe 1966). Outcrosses of the sc/ec carriers to normally feathered birds produced carriers who were test mated and then crossed to produce mutants with the palate abnormality alone to show that the mutations were unlinked (notably, the hindlimb abnormality occurred only in the double sc/ec mutants). The ec mutation was later backcrossed for nine generations into a highly inbred Single Comb White Leghorn line (UCD 003) and renamed cleft primary palate to reflect the key phenotype of the single mutation. The line was then closed to create the separate congenic inbred line UCD cpp.003, estimated to have greater than 99% DNA identity to UCD 003 outside of the introgressed mutation-encoding region given the number of backcrosses of the cpp-containing line to the highly inbred UCD 003 background line (Abplanalp 1992). Birds of the UCD cpp.003 line are test mated to verify carrier status prior to annual reproduction."
Inheritance: As summarised by Youngworth and Delany (2020), "The fact that carriers are phenotypically normal with consistent Mendelian ratios of mutants to carriers and non-carriers shows that the mutation is probably a recessive single-gene defect (Abbott & MacCabe 1966)."
Mapping: As summarised by Youngworth and Delany (2020), "The fact that carriers are phenotypically normal with consistent Mendelian ratios of mutants to carriers and non-carriers shows that the mutation is probably a recessive single-gene defect (Abbott & MacCabe 1966)."
Molecular basis: As summarised by Youngworth and Delany (2020), "The fact that carriers are phenotypically normal with consistent Mendelian ratios of mutants to carriers and non-carriers shows that the mutation is probably a recessive single-gene defect (Abbott & MacCabe 1966)."
Clinical features: Youngworth and Delany (2020): "The cpp mutation results in a severely abnormal frontonasal prominence, which gives the appearance of a recessed and upturned upper beak (see figure 4P‐T in Schock et al. 2016). This tissue defect appears to start with the abnormal fusion of facial prominences, coincident with and possibly owing to the absence of prefusion filaments in the mutants (Yee & Abbott 1978; Youngworth 2019). The cpp mutation ... is embryonic lethal between 17 and 20 days of incubation (Abbott & MacCabe 1966)."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ESRP2||epithelial splicing regulatory protein 2||Gallus gallus||11||NC_052542.1 (2888827..2942778)||ESRP2||Homologene, Ensembl , NCBI gene|
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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|
|1169||Cleft primary palate||ESRP2||deletion, small (<=20)||Naturally occurring variant||GRCg6a||11||g.3284041del||ss5200091912||❌ rs3386590816||2020||32162363|
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.
|2022||Jaruga, A., Ksiazkiewicz, J., Kuzniarz, K., Tylzanowski, P. :|
|Orofacial cleft and mandibular prognathism-human genetics and animal models. Int J Mol Sci 23:953, 2022. Pubmed reference: 35055138 . DOI: 10.3390/ijms23020953.|
|2020||Youngworth, I.A., Delany, M.E. :|
|Mapping of the chicken cleft primary palate mutation on chromosome 11 and sequencing of the 4.9 Mb linked region. Anim Genet 51:423-429, 2020. Pubmed reference: 32162363 . DOI: 10.1111/age.12927.|
|2016||Schock, E.N., Chang, C.F., Youngworth, I.A., Davey, M.G., Delany, M.E., Brugmann, S.A. :|
|Utilizing the chicken as an animal model for human craniofacial ciliopathies. Dev Biol 415:326-337, 2016. Pubmed reference: 26597494 . DOI: 10.1016/j.ydbio.2015.10.024.|
|2004||MacDonald, ME., Abbott, UK., Richman, JM. :|
|Upper beak truncation in chicken embryos with the cleft primary palate mutation is due to an epithelial defect in the frontonasal mass. Dev Dyn 230:335-49, 2004. Pubmed reference: 15162512 . DOI: 10.1002/dvdy.20041.|
|1978||Yee, G.W., Abbott, U.K. :|
|Facial development in normal and mutant chick embryos. I. Scanning electron microscopy of primary palate formation. J Exp Zool 206:307-21, 1978. Pubmed reference: 712345 . DOI: 10.1002/jez.1402060302.|
|1966||Abbott, U.K., MacCabe, J.A. :|
|Ectrodactyly: a new embryonic lethal mutation in the chicken. J Hered 57:207-11, 1966. Pubmed reference: 5971042 .|
- Created by Imke Tammen2 on 25 Mar 2022