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Gene Review:

SY - Syndactyly

Bos taurus

Duchesne, A. et al., Drögemüller, C. et al., Doyle, P.E. et al., Johnson, J.L. et al., W??hlke, A. et al., et al.

Drögemüller, Distl,

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Disease relevance of SY

Twins also have significant reported deficits of polydactyly and syndactyly; congenital dislocation of the hip; anomalies of the tongue, branchial cleft and auricular sinus; post-anal dimple; and Down's syndrome [1].

High impact information on SY

Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15 [2].
We report genetic evidence for the exclusion of two genes previously suggested as candidates (EXT2 and ALX4) and describe the identification of a doublet mutation in complete linkage disequilibrium with syndactyly in one gene of the critical interval: LRP4 [3].
Hereditary bovine syndactyly: diagnosis in bovine fetuses [4].
Syndactylous donors, superovulation, embryo transfer, and fetal removal via cesarean section were used to test four Holstein-Friesian bulls suspected of being heterozygous for syndactyly [5].
The ALX4 gene was evaluated as a candidate gene for bovine syndactyly which has been mapped on the telomeric region of cattle chromosome 15 [6].

Biological context of SY

Bovine syndactyly or "mulefoot" has been previously shown to map on the telomeric end of bovine chromosome 15 and we performed PCR genotyping of microsatellite markers spanning 27 cM of this chromosomal region to test the new cases for genetic linkage with the phenotype [7].

Analytical, diagnostic and therapeutic context of SY

Here, we describe the fine-mapping of syndactyly in Holstein cattle to a 3.5-Mb critical interval using a comparative mapping approach and an extended pedigree generated by embryo transfer [3].
Testing for bovine hereditary syndactyly used artificial insemination, superovulation, and embryo transfer [8].

References

Congenital malformations in twins in England and Wales. Doyle, P.E., Beral, V., Botting, B., Wale, C.J. Journal of epidemiology and community health. (1991) [Pubmed]
Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15. Charlier, C., Farnir, F., Berzi, P., Vanmanshoven, P., Brouwers, B., Vromans, H., Georges, M. Genome Res. (1996) [Pubmed]
Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle. Duchesne, A., Gautier, M., Chadi, S., Grohs, C., Floriot, S., Gallard, Y., Caste, G., Ducos, A., Eggen, A. Genomics (2006) [Pubmed]
Hereditary bovine syndactyly: diagnosis in bovine fetuses. Hart-Elcock, L., Leipold, H.W., Baker, R. Vet. Pathol. (1987) [Pubmed]
Progeny testing for bovine syndactyly. Johnson, J.L., Leipold, H.W., Snider, G.W., Baker, R.D. J. Am. Vet. Med. Assoc. (1980) [Pubmed]
The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly. W??hlke, A., Kuiper, H., Distl, O., Dr??gem??ller, C. Cytogenet. Genome Res. (2006) [Pubmed]
Genetic analysis of syndactyly in German Holstein cattle. Drögemüller, C., Distl, O. Vet. J. (2006) [Pubmed]
Growth of the early bovine fetus. Hart-Elcock, L., Baker, R.D., Leipold, H.W. Zentralblatt für Veterinärmedizin. Reihe A. (1990) [Pubmed]

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