OMIA:002347-9940 : Haplotype with homozygous deficiency, LDHH11 in Ovis aries (sheep)
Categories: Mortality / aging (incl. embryonic lethal)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive, semi-lethal
Considered a defect: yes
Key variant known: no
Species-specific description: Braiek et al. (2021): “By scanning the genome of 19,102 Lacaune sheep using 50 k single nucleotide polymorphism (SNP) phased genotypes and pedigree data, we identified 11 Lacaune deficient homozygous haplotypes (LDHH1 to LDHH11) showing a highly significant deficit of homozygous animals ranging from 79 to 100%. These haplotypes located on chromosomes 3, 4, 13, 17 and 18, spanned regions from 1.2 to 3.0 Mb long with a frequency of heterozygous carriers between 3.7 and 12.1%. When we compared at-risk matings (between carrier rams and daughters of carrier rams) and safe matings, seven of the 11 haplotypes were associated with a significant alteration of two fertility traits, a reduced success of artificial insemination (LDHH1, 2, 8 and 9), and/or an increased stillbirth rate (LDHH3, 6, 8, 9, and 10). The 11 haplotypes were also tested for a putative selective advantage of heterozygous carrier rams based on their daughter yield deviation for six dairy traits (milk, fat and protein yields, fat and protein contents and lactation somatic cell score). LDHH1, 3, 4, 5, 7, 9 and 11 were associated with positive effects on at least one selected dairy trait, in particular milk yield.”
Mapping: Position on ovine genome assembly Oar_v3.1: LDHH11 OAR3: 128.9–131.1 Mb
Have human generated variants been created, e.g. through genetic engineering and gene editing
Lacaune (Sheep) (VBO_0001474).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|2021||Ben Braiek, M., Fabre, S., Hozé, C., Astruc, J.M., Moreno-Romieux, C. :|
|Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep. Genet Sel Evol 53:41, 2021. Pubmed reference: 33932977. DOI: 10.1186/s12711-021-00634-1.|
- Created by Imke Tammen2 on 26 May 2021