OMIA:002201-9913 : Haplotype with homozygous deficiency NH7, CAD-related in Bos taurus (taurine cattle) |
Categories: Mortality / aging (incl. embryonic lethal)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616457 (trait) , 114010 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Disease-related: 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)"
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. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 | 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. |
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. |
Edit History
- Created by Frank Nicholas on 04 Jun 2019
- Changed by Frank Nicholas on 04 Jun 2019
- Changed by Frank Nicholas on 15 May 2020