FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4324144938> ?p ?o ?g. }

• W4324144938 abstract "Abstract Recently, we evidenced that the Manech Tête Rousse (MTR) deficient homozygous haplotype 2 (MTRDHH2) was likely to harbor a recessive lethal variant in ovine. In the present study, we fine mapped this region by analyzing the whole genome sequence of five MTRDHH2 heterozygous carriers compared to 95 sequences of non-carrier animals from MTR and others ovine breeds. We successfully identified a single base pair duplication in the SLC33A1 gene, resulting in a frameshift leading to a premature stop codon (p.Arg246Alafs*3). SLC33A1 acts as a transmembrane transporter of acetyl-Coenzyme A, essential for cellular metabolism. In order to assess for the lethal phenotype in homozygous MTR sheep, we generated at-risk matings by artificial insemination (AI) between rams and ewes heterozygous for the SLC33A1 variant named SLC33A1_ dupG. Gestation status was checked 15 days post-AI by a molecular test from blood expression of the interferon Tau-stimulated MX1 gene, and by ultrasonography performed between 45 days and 60 days post-AI. Based on ultrasonography, the AI success was reduced by 12% compared to safe matings suggesting embryonic/fetal losses further confirmed by the molecular test based on MX1 differential expression. Forty-nine lambs were born from at-risk matings with a mortality rate of 34.7% observed before weaning. Homozygous SLC33A1_ dupG lambs contributed to 47% of this mortality occurring mainly in the first five days after lambing with no obvious clinical signs. Thus, an appropriate management of SLC33A1_ dupG (allele frequency of 0.04) in the MTR selection scheme should increase the overall fertility and lamb survival." @default.
• W4324144938 created "2023-03-15" @default.
• W4324144938 creator A5002203453 @default.
• W4324144938 creator A5002469221 @default.
• W4324144938 creator A5005325578 @default.
• W4324144938 creator A5008021290 @default.
• W4324144938 creator A5023923586 @default.
• W4324144938 creator A5029918178 @default.
• W4324144938 creator A5036020770 @default.
• W4324144938 creator A5048661886 @default.
• W4324144938 creator A5051604804 @default.
• W4324144938 creator A5090564929 @default.
• W4324144938 date "2023-03-13" @default.
• W4324144938 modified "2023-10-18" @default.
• W4324144938 title "A single base pair duplication in<i>SLC33A1</i>gene causes fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep" @default.
• W4324144938 cites W1695973230 @default.
• W4324144938 cites W1976923563 @default.
• W4324144938 cites W1982559414 @default.
• W4324144938 cites W1988276998 @default.
• W4324144938 cites W1990748933 @default.
• W4324144938 cites W1991983786 @default.
• W4324144938 cites W1998513777 @default.
• W4324144938 cites W2005561576 @default.
• W4324144938 cites W2012099404 @default.
• W4324144938 cites W2024815113 @default.
• W4324144938 cites W2029641872 @default.
• W4324144938 cites W2043107286 @default.
• W4324144938 cites W2044881587 @default.
• W4324144938 cites W2046089195 @default.
• W4324144938 cites W2056886869 @default.
• W4324144938 cites W2066422189 @default.
• W4324144938 cites W2070451057 @default.
• W4324144938 cites W2082740138 @default.
• W4324144938 cites W2084027239 @default.
• W4324144938 cites W2086266189 @default.
• W4324144938 cites W2097252617 @default.
• W4324144938 cites W2103740237 @default.
• W4324144938 cites W2105309456 @default.
• W4324144938 cites W2117131162 @default.
• W4324144938 cites W2124881162 @default.
• W4324144938 cites W2133991017 @default.
• W4324144938 cites W2142043767 @default.
• W4324144938 cites W2143602768 @default.
• W4324144938 cites W2145450234 @default.
• W4324144938 cites W2149992227 @default.
• W4324144938 cites W2151489593 @default.
• W4324144938 cites W2155845480 @default.
• W4324144938 cites W2168909179 @default.
• W4324144938 cites W2284417855 @default.
• W4324144938 cites W2346732156 @default.
• W4324144938 cites W2406773437 @default.
• W4324144938 cites W2523032102 @default.
• W4324144938 cites W2556639243 @default.
• W4324144938 cites W2747511889 @default.
• W4324144938 cites W2762981192 @default.
• W4324144938 cites W2767989051 @default.
• W4324144938 cites W2784722431 @default.
• W4324144938 cites W2788915030 @default.
• W4324144938 cites W2801863610 @default.
• W4324144938 cites W2891533084 @default.
• W4324144938 cites W2902798405 @default.
• W4324144938 cites W2951942625 @default.
• W4324144938 cites W2983359295 @default.
• W4324144938 cites W3002568562 @default.
• W4324144938 cites W3005395810 @default.
• W4324144938 cites W3091309118 @default.
• W4324144938 cites W3159764505 @default.
• W4324144938 cites W4200609958 @default.
• W4324144938 cites W4239278431 @default.
• W4324144938 cites W4247521392 @default.
• W4324144938 cites W4323980363 @default.
• W4324144938 cites W3047438421 @default.
• W4324144938 doi "https://doi.org/10.1101/2023.03.13.532360" @default.
• W4324144938 hasPublicationYear "2023" @default.
• W4324144938 type Work @default.
• W4324144938 citedByCount "0" @default.
• W4324144938 crossrefType "posted-content" @default.
• W4324144938 hasAuthorship W4324144938A5002203453 @default.
• W4324144938 hasAuthorship W4324144938A5002469221 @default.
• W4324144938 hasAuthorship W4324144938A5005325578 @default.
• W4324144938 hasAuthorship W4324144938A5008021290 @default.
• W4324144938 hasAuthorship W4324144938A5023923586 @default.
• W4324144938 hasAuthorship W4324144938A5029918178 @default.
• W4324144938 hasAuthorship W4324144938A5036020770 @default.
• W4324144938 hasAuthorship W4324144938A5048661886 @default.
• W4324144938 hasAuthorship W4324144938A5051604804 @default.
• W4324144938 hasAuthorship W4324144938A5090564929 @default.
• W4324144938 hasBestOaLocation W43241449381 @default.
• W4324144938 hasConcept C104317684 @default.
• W4324144938 hasConcept C127716648 @default.
• W4324144938 hasConcept C16685009 @default.
• W4324144938 hasConcept C172680121 @default.
• W4324144938 hasConcept C180754005 @default.
• W4324144938 hasConcept C2779234561 @default.
• W4324144938 hasConcept C29906990 @default.
• W4324144938 hasConcept C54355233 @default.
• W4324144938 hasConcept C71924100 @default.
• W4324144938 hasConcept C7602840 @default.
• W4324144938 hasConcept C86803240 @default.
• W4324144938 hasConceptScore W4324144938C104317684 @default.

• next