Haplotype with homozygous deficiency HH5, TFB1M-related
- Phene ID
- 3742
- Name
- Haplotype with homozygous deficiency HH5, TFB1M-related
- Phene Name
- Haplotype HH5
- OMIA ID
- 1941
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 963 | Abortion due to haplotype HH5 | 388273918 | 1 | 9 | N/A | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
[FN thanks Ekkehard Schütz for feedback on an earlier version of the text on this page]
Schütz et al. (2016) identified the likely causal mutation as "a deletion of 138kbp, spanning position 93,233kb to 93,371kb on chromosome 9 (BTA9), harboring only dimethyl-adenosine transferase 1 (TFB1M). The deletion breakpoints are flanked by bovine long interspersed nuclear elements Bov-B (upstream) and L1ME3 (downstream), suggesting a homologous recombination/deletion event. TFB1M di-methylates adenine residues in the hairpin loop at the 3’-end of mitochondrial 12S rRNA, being essential for synthesis and function of the small ribosomal subunit of mitochondria." The causality of this deletion is reinforced by the fact that homozygous TFB1M knockout mice are not viable and suffer fetal death (Schütz et al., 2016).