A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep
2024
Ben Braiek, Maxime | Szymczak, Soline | André, Céline | Bardou, Philippe | Fidelle, Francis | Granado-Tajada, Itsasne | Plisson-Petit, Florence | Sarry, Julien | Woloszyn, Florent | Moreno-Romieux, Carole | Fabre, Stéphane | Génétique Physiologie et Systèmes d'Elevage (GenPhySE) ; Ecole Nationale Vétérinaire de Toulouse (ENVT) ; Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT) ; Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole d'Ingénieurs de Purpan (INP - PURPAN) ; Institut National Polytechnique (Toulouse) (Toulouse INP) ; Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE) | Centre Départemental de l'Elevage Ovin (CDEO64) | Système d'Information des GENomes des Animaux d'Elevage (SIGENAE) ; Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE) | Neiker-Instituto Vasco de Investigación y Desarrollo Agrario (SPAIN) ; Instituto Vasco de Investigación y Desarrollo Agrario [Derio] (NEIKER) | APIS-GENE | Ministère de l'Agriculture et de l'Alimentation, Grant/Award Number:PRESAGE/CASDAR n°20ART1532777 | Région Occitanie Pyrénées-Méditerranée | European Project: 772787,H2020-EU.3.2.1.1.;H2020-EU.3.2.,SMARTER(2018)
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Afficher plus [+] Moins [-]anglais. We recently discovered that the Manech Tête Rousse (MTR) deficient homozygous haplotype 2 (MTRDHH2) probably carries a recessive lethal mutation in sheep. In this study, we fine‐mapped this region through whole‐genome sequencing of five MTRDHH2 heterozygous carriers and 95 non‐carriers from various ovine breeds. We identified a single base pair duplication within the SLC33A1 gene, leading to a frameshift mutation and a premature stop codon (p.Arg246Alafs*3). SLC33A1 encodes a transmembrane transporter of acetyl‐coenzyme A that is crucial for cellular metabolism. To investigate the lethality of this mutation in homozygous MTR sheep, we performed at‐risk matings using artificial insemination (AI) between heterozygous SLC33A1 variant carriers ( SLC33A1_dupG ). Pregnancy was confirmed 15 days post‐AI using a blood test measuring interferon Tau‐stimulated MX1 gene expression. Ultrasonography between 45 and 60 days post‐AI revealed a 12% reduction in AI success compared with safe matings, indicating embryonic/fetal loss. This was supported by the MX1 differential expression test suggesting fetal losses between 15 and 60 days of gestation. We also observed a 34.7% pre‐weaning mortality rate in 49 lambs born from at‐risk matings. Homozygous SLC33A1_dupG lambs accounted for 47% of this mortality, with deaths occurring mostly within the first 5 days without visible clinical signs. Therefore, appropriate management of SLC33A1_dupG with an allele frequency of 0.04 in the MTR selection scheme would help increase overall fertility and lamb survival.
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