OMIA:002862-9940 : Haplotype with homozygous deficiency, SLC33A1-related in Ovis aries (sheep) |
Categories: Mortality / aging (incl. embryonic lethal)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603690 (gene) , 614482 (trait) , 612539 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Manech Tête Rousse (MTR) deficient homozygous haplotype 2; MTRDHH2
Mapping: Ben Braiek et al. (2024, PMID: 38424485) "used phased 50 k single nucleotide polymorphism (SNP) genotypes and pedigree data to scan the genome of 6845 Manech Tête Rousse dairy sheep to search for deficiency in homozygous haplotypes (DHH). Five Manech Tête Rousse deficient homozygous haplotypes (MTRDHH1 to 5) were identified, with a homozygous deficiency ranging from 84 to 100%." The MTRDHH2 haplotype is located on chromosome 1 (251.9–256.4MB) with a carrier frequency of 8.7% in teh studied population.
Molecular basis:
Ben Braiek et al. (2024, PMID: 38922751) "fine-mapped [the MTRDHH2] region through whole-genome sequencing of five MTRDHH2 heterozygous carriers and 95 non- carriers from various ovine breeds. [The authors] identified a single base pair
duplication within the SLC33A1 gene [NC_040252.1:252649023dupG], leading to a frameshift mutation and a premature stop codon (p.Arg246Alafs*3)."
Clinical features: Ben Braiek et al. (2024, PMID: 38922751) mated heterozygous SLC33A1 variant carriers to investigate the impact of the mutation in homozygous sheep and observed lamb mortality in homozygous SLC33A1 dupG/dupG lambs and decreased AI success in at-risk matings.
Breed:
Manech Tête Rousse, France (Sheep) (VBO_0015121).
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 |
|---|---|---|---|---|---|---|
| SLC33A1 | solute carrier family 33 member 1 | Ovis aries | 1 | NC_056054.1 (232559408..232582817) | SLC33A1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1707 | Manech Tête Rousse, France (Sheep) | Haplotype with homozygous deficiency, SLC33A1-related | SLC33A1 | MTRDHH2 | duplication | Naturally occurring variant | Oar_rambouillet_v1.0 | 1 | NC_040252.1:g.252649023dupG | XM_012100950.3:c.735dupG | XP_011956340.1:p.(R246Afs*3) | 2024 | 38922751 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002862-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Ben Braiek, M., Moreno-Romieux, C., André, C., Astruc, J.M., Bardou, P., Bordes, A., Debat, F., Fidelle, F., Granado-Tajada, I., Hozé, C., Plisson-Petit, F., Rivemale, F., Sarry, J., Tadi, N., Woloszyn, F., Fabre, S. : |
| Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability. Genet Sel Evol 56:16, 2024. Pubmed reference: 38424485. DOI: 10.1186/s12711-024-00886-7. | |
| Ben Braiek, M., Szymczak, S., André, C., Bardou, P., Fidelle, F., Granado-Tajada, I., Plisson-Petit, F., Sarry, J., Woloszyn, F., Moreno-Romieux, C., Fabre, S. : | |
| A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep. Anim Genet 55:644-657, 2024. Pubmed reference: 38922751. DOI: 10.1111/age.13459. |
Edit History
- Created by Imke Tammen2 on 01 Aug 2024