Deviations from Mendelian Inheritance on Bovine X-Chromosome Revealing Recombination, Sex-of-Offspring Effects and Fertility-Related Candidate Genes

[EN] Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. TRD was analyzed on 3832 heterosomal single nucleotide polymorphisms (SNPs) and 400 pseudoauto...

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Detalhes bibliográficos
Autores: Id-Lahoucine, Samir, Casellas, Joaquim, Souza Fonseca, Pablo Augusto de, Suárez Vega, Aroa, Schenkel, Flavio S., Cánovas, Ángela
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2022
País:España
Recursos:Ajuntament de Barcelona
Repositório:BULERIA. Repositorio Institucional de la Universidad de León
OAI Identifier:oai:buleria.unileon.es:10612/22848
Acesso em linha:https://www.mdpi.com/2073-4425/13/12/2322
https://hdl.handle.net/10612/22848
Access Level:Acceso aberto
Palavra-chave:Genética
Producción animal
Transmission ratio distortion
Chromosome X
Recombination
Bovine
3104.11 Reproducción
3104 Producción Animal
Descrição
Resumo:[EN] Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. TRD was analyzed on 3832 heterosomal single nucleotide polymorphisms (SNPs) and 400 pseudoautosomal SNPs spanning the length of the X-chromosome using 436,651 genotyped Holstein cattle. On the pseudoautosomal region, an opposite sire-TRD pattern between male and female offspring was identified for 149 SNPs. This finding revealed unique SNPs linked to a specific-sex (Y- or X-) chromosome and describes the accumulation of recombination events across the pseudoautosomal region. On the heterosomal region, 13 SNPs and 69 haplotype windows were identified with dam-TRD. Functional analyses for TRD regions highlighted relevant biological functions responsible to regulate spermatogenesis, development of Sertoli cells, homeostasis of endometrium tissue and embryonic development. This study uncovered the prevalence of different TRD patterns across both heterosomal and pseudoautosomal regions of the X-chromosome and revealed functional candidate genes for bovine reproduction