Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability

Autor: Maxime Ben Braiek, Carole Moreno-Romieux, Céline André, Jean-Michel Astruc, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Francis Fidelle, Itsasne Granado-Tajada, Chris Hozé, Florence Plisson-Petit, François Rivemale, Julien Sarry, Némuel Tadi, Florent Woloszyn, Stéphane Fabre

Publikováno v: Genetics Selection Evolution, Vol 56, Iss 1, Pp 1-16 (2024)

Abstract Background Recessive deleterious variants are known to segregate in livestock populations, as in humans, and some may be lethal in the homozygous state. Results We used phased 50 k single nucleotide polymorphism (SNP) genotypes and pedigree

Externí odkaz: https://doaj.org/article/7b1755e444a340379fc3b8e77ff22cc4

A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep

Autor: Maxime Ben Braiek, Carole Moreno-Romieux, Charlotte Allain, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Cord Drögemüller, Florence Plisson-Petit, David Portes, Julien Sarry, Némuel Tadi, Florent Woloszyn, Stéphane Fabre

Publikováno v: Genes
Genes, Vol 13, Iss 45, p 45 (2022)
Braiek, Ben; Moreno-Romieux, Carole; Allain, Charlotte; Bardou, Philippe; Bordes, Arnaud; Debat, Frédéric; Drögemüller, Cord; Plisson-Petit, Florence; Portes, David; Sarry, Julien; Tadi, Némuel; Woloszyn, Florent; Fabre, Stéphane (2021). A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep. Genes, 13(1), p. 45. MDPI, Molecular Diversity Preservation International 10.3390/genes13010045
Genes; Volume 13; Issue 1; Pages: 45

We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6) potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on OAR3. In the present study, we have analyzed the whole-genome sequences of two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1662ed09b1ad5f91e6be41c8859e2c18
https://doi.org/10.3390/genes13010045