OMIA 002107-9940 : Fecundity, Barbarine, FecX(Bar) in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 300510

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2017

Species-specific description: Lassoued et al. (2017) summarised the effect of this variant as: "Calculated in the “W” flock, the FecX Bar allele increased OR by 0.7 ova and LS by 0.3 lambs (p = 0.08)."

Molecular basis: Lassoued et al. (2017): the likely causal variant is "a composite polymorphism associating a single nucleotide substitution (c.301G > T), a 3 bp deletion (c.302_304delCTA) and a C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101".

Breed: Tunisian Barbarine.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BMP15 bone morphogenetic protein 15 Ovis aries X NC_019484.2 (50986718..50980229) BMP15 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
Tunisian Barbarine Fecundity, Barbarine, FecX(Bar) BMP15 complex rearrangement "a composite polymorphism associating a single nucleotide substitution (c.301G > T), a 3 bp deletion (c.302_304delCTA) and a C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101" 2017 28506298

Reference


2017 Lassoued, N., Benkhlil, Z., Woloszyn, F., Rejeb, A., Aouina, M., Rekik, M., Fabre, S., Bedhiaf-Romdhani, S. :
FecX (Bar) a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine Sheep. BMC Genet 18:43, 2017. Pubmed reference: 28506298. DOI: 10.1186/s12863-017-0510-x.

Edit History


  • Created by Frank Nicholas on 19 May 2017
  • Changed by Frank Nicholas on 19 May 2017