OMIA 001565-9913 : Abortion and stillbirth, MIMT1-related in Bos taurus |
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2010
Molecular basis:
Flisikowski et al. (2010) described a Finnish Ayrshire bull with an incidence of almost 50% of late abortion/stillbirth in his progeny. A half-sib linkage analysis with the BovineSNP50 BeadChip implicated the maternally imprinted PEG3 domain on chromosome BTA18. Genes in this region are not expressed when inherited from the female parent. Close examination of this region disclosed that this bull was heterozygous for a 110 kb deletion in the MIMT1 gene. All of his offspring will have received a non-functional (maternally imprinted) version of this gene from their dam. The 50% of his offspring that receive the deletion from the bull will therefore have no functional MIMT1 gene. The vast majority of these offspring die in late pregnancy, resulting in late abortion/stillbirth. From a gene-expression study in affected and normal foetuses, Flisikowski et al. (2012) implicated a number of genes, especially NRSP1, which encodes neuropeptide S receptor 1.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MIMT1 | MER1 repeat containing imprinted transcript 1 (non-protein coding) | Bos taurus | - | no genomic information (-..-) | MIMT1 | Homologene, Ensembl, NCBI gene |
Variants
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Finnish Ayrshire | Abortion and stillbirth due to mutation in MIMT1 | MIMT1 | deletion, gross (>20) | a 110 kb deletion in the MIMT1 gene | 2010 | 21152099 |
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.
| 2013 | Venhoranta, H., Bauersachs, S., Taponen, J., Lohi, H., Taira, T., Andersson, M., Kind, A., Schnieke, A., Flisikowski, K. : | |
| Fetal growth restriction caused by MIMT1 deletion alters brain transcriptome in cattle. Int J Dev Neurosci 31:463-7, 2013. Pubmed reference: 23726833. DOI: 10.1016/j.ijdevneu.2013.05.003. | ||
| 2012 | Flisikowski, K., Venhoranta, H., Bauersachs, S., Hänninen, R., Fürst, R.W., Saalfrank, A., Ulbrich, S.E., Taponen, J., Lohi, H., Wolf, E., Kind, A., Andersson, M., Schnieke, A. : | |
| Truncation of MIMT1 gene in the PEG3 domain leads to major changes in placental gene expression and stillbirth in cattle. Biol Reprod 87:140, 2012. Pubmed reference: 23100617. DOI: 10.1095/biolreprod.112.104240. | ||
| 2010 | Flisikowski, K., Venhoranta, H., Nowacka-Woszuk, J., McKay, SD., Flyckt, A., Taponen, J., Schnabel, R., Schwarzenbacher, H., Szczerbal, I., Lohi, H., Fries, R., Taylor, JF., Switonski, M., Andersson, M. : | |
| A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). PLoS One 5:e15116, 2010. Pubmed reference: 21152099. DOI: 10.1371/journal.pone.0015116. |
Edit History
- Created by Frank Nicholas on 17 May 2011
- Changed by Frank Nicholas on 05 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 May 2013