OMIA 000001-9913 : Haplotype with homozygous deficiency HH1, APAF1-related in Bos taurus |
Adams et al. (2016) published the causal mutation as being "a nonsense mutation in APAF1 (apoptotic protease activating factor 1; APAF1 p.Q579X) within HH1 using whole-genome resequencing of Chief and 3 of his sons. This mutation is predicted to truncate 670 AA (53.7%) of the encoded APAF1 protein that contains a WD40 domain critical to protein–protein interactions."
Prevalence: Adams et al. (2016) :"Subsequent commercial genotyping of 246,773 Holsteins revealed 5,299 APAF1 heterozygotes and zero homozygotes for the mutation. . . . This mutation has caused an estimated 525,000 spontaneous abortions worldwide over the past 35 years, accounting for approximately $420 million in losses." Breed: Holstein. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
APAF1 | apoptotic peptidase activating factor 1 | Bos taurus | 5 | NC_037332.1 (62781941..62871540) | APAF1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
286 | Friesian Holstein | Abortion due to a nonsense mutation in APAF1 on haplotype HH1 | APAF1 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.2 | 5 | g.62810245C>T | c.1741C>T | p.(Q581*) | rs448942533 | rs448942533 | 2016 | 27289157 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
References
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 | Albertino, L.G., Albuquerque, A.L.H., Ferreira, J.F., Oliveira, J.P.M., Borges, A.S., Patelli, T.H.C., Oliveira-Filho, J.P. : | |
Allele Frequency of <i>APAF</i>1 Mutation in Holstein Cattle in Brazil. Front Vet Sci 9:822224, 2022. Pubmed reference: 35280144. DOI: 10.3389/fvets.2022.822224. | ||
2021 | Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. : | |
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y. | ||
2016 | Adams, H.A., Sonstegard, T.S., VanRaden, P.M., Null, D.J., Van Tassell, C.P., Larkin, D.M., Lewin, H.A. : | |
Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle. J Dairy Sci 99:6693-701, 2016. Pubmed reference: 27289157. DOI: 10.3168/jds.2015-10517. | ||
2013 | Fritz, S., Capitan, A., Djari, A., Rodriguez, S.C., Barbat, A., Baur, A., Grohs, C., Weiss, B., Boussaha, M., Esquerré, D., Klopp, C., Rocha, D., Boichard, D. : | |
Detection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2. PLoS One 8:e65550, 2013. Pubmed reference: 23762392. DOI: 10.1371/journal.pone.0065550. | ||
2012 | Adams, H.A., Sonstegard, T., VanRaden, P.M., Null, D.J., Van Tassell, C., Lewin, H. : | |
Identification of a Nonsense Mutation in APAF1 that is Causal for a Decrease in Reproductive Efficiency in Dairy Cattle Plant & Animal Genome (PAG) XX :Abstract P0555, 2012. | ||
2011 | VanRaden, P.M., Olson, K.M., Null, D.J., Hutchison, J.L. : | |
Harmful recessive effects on fertility detected by absence of homozygous haplotypes. J Dairy Sci 94:6153-61, 2011. Pubmed reference: 22118103. DOI: 10.3168/jds.2011-4624. | ||
1971 | Wijeratne, WVS, Stewart, DL : | |
Population study of abortion in cattle with special reference to genetic factors Animal Production 13:229-235, 1971. | ||
1963 | Mylrea, P.J. : | |
A suspected genetic cause of abortion in cattle Australian Veterinary Journal 39:35-36, 1963. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 03 Oct 2011
- Changed by Frank Nicholas on 19 Jan 2012
- Changed by Frank Nicholas on 12 Jun 2013
- Changed by Frank Nicholas on 14 Jun 2013
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 10 Jun 2016
- Changed by Frank Nicholas on 14 Jun 2016