OMIA 002201-9913 : Abortion due to haplotype NH7 in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2019

Mapping: Mesbah-Uddin et al. (2019) mapped this locus to "chromosome 11 between positions 70,750,209 and 72,476,622 bp"

Molecular basis: Mesbah-Uddin et al. (2019) reported a likely causal variant as a "missense mutation CAD g.72399397T>C (p.Tyr452Cys)"

Prevalence: Mesbah-Uddin et al. (2019) "genotyped 33,323 Normande cattle for Chr11 g.72399397T>C (CAD p.Tyr452Cys) mutation (corresponding test in the chip: g.72399397A>G in the TOP format) using the Illumina EuroG10K BeadChip . . . . In this data set, the NH7 haplotype and g.72399397G allele frequencies were 2.58 and 2.92%, respectively . . . . We did not observe homozygotes for the g.72399397G allele, although 28 were expected under neutrality (P < 7 × 10−13), which largely corroborates the observed recessive-lethal inheritance of NH7".

Breed: Normande.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Bos taurus 11 NC_037338.1 (72414662..72393099) CAD 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Normande Abortion due to haplotype NH7 CAD missense 11 g.72,399,397T>C p.Tyr452Cys 2019 31056337

Reference


2019 Mesbah-Uddin, M., Hoze, C., Michot, P., Barbat, A., Lefebvre, R., Boussaha, M., Sahana, G., Fritz, S., Boichard, D., Capitan, A. :
A missense mutation (p.Tyr452Cys) in the CAD gene compromises reproductive success in French Normande cattle. J Dairy Sci :, 2019. Pubmed reference: 31056337. DOI: 10.3168/jds.2018-16100.

Edit History


  • Created by Frank Nicholas on 04 Jun 2019
  • Changed by Frank Nicholas on 04 Jun 2019