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OMIA:002201-9913 : Haplotype with homozygous deficiency NH7, CAD-related in Bos taurus (taurine cattle)

Categories: Mortality / aging (incl. embryonic lethal)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616457 (trait) , 114010 (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: 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)"

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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 (Cattle) (VBO_0000322).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

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 (72414665..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.

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
1087 Normande (Cattle) Abortion due to haplotype NH7 CAD missense Naturally occurring variant ARS-UCD1.2 11 g.72409143T>C p.(Y452C) published as CAD g.72399397T>C; p.Tyr452Cys rs5334475092 2019 31056337 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002201-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2019 Mesbah-Uddin, M., Hoze, C., Michot, P., Barbat, A., Lefebvre, R., Boussaha, M., Sahana, G., Fritz, S., Boichard, D., Capitan, A., 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 102:6340-6356, 2019. Pubmed reference: 31056337. DOI: 10.3168/jds.2018-16100.

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  • Created by Frank Nicholas on 04 Jun 2019
  • Changed by Frank Nicholas on 04 Jun 2019
  • Changed by Frank Nicholas on 15 May 2020