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OMIA:002850-9940 : Haplotype with homozygous deficiency, MTRDHH2 to 5 in Ovis aries (sheep)

Categories: Mortality / aging (incl. embryonic lethal)

Mendelian trait/disorder: unknown

Disease-related: yes

Mapping: 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%. These haplotypes are located on Ovis aries chromosome (OAR)1 (MTRDHH2 and 3), OAR10 (MTRDHH4), OAR13 (MTRDHH5), and OAR20 (MTRDHH1), and have carrier frequencies ranging from 7.8 to 16.6%." The likely causal variant for MTRDHH1 was identified in MMUT - see 'OMIA:002849-9940 : Methylmalonic-coA mutase deficiency in Ovis aries (sheep)' for details. Ben Braiek et al. (2024, PMID:38922751) later reported the likely causal variant for the MTRDHH2 haplotype - see OMIA:002862-9940 : Haplotype with homozygous deficiency, SLC33A1-related in Ovis aries (sheep) for details.

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).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002850-9940: 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 02 May 2024
  • Changed by Imke Tammen2 on 02 May 2024
  • Changed by Imke Tammen2 on 01 Aug 2024