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

Samir Id-Lahoucine; Joaquim Casellas; Pablo A S Fonseca; Aroa Suárez-Vega; Flavio S Schenkel; Angela Cánovas

doi:10.3390/genes13122322

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

Genes (Basel). 2022 Dec 9;13(12):2322. doi: 10.3390/genes13122322.

Authors

Samir Id-Lahoucine¹, Joaquim Casellas², Pablo A S Fonseca¹, Aroa Suárez-Vega¹, Flavio S Schenkel¹, Angela Cánovas¹

Affiliations

¹ Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
² Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.

Abstract

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.

Keywords: bovine; chromosome X; recombination; transmission ratio distortion.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Animals
Cattle / genetics
Female
Fertility / genetics
Genotype
Male
Recombination, Genetic
Sex Chromosomes*
X Chromosome* / genetics

Grants and funding

This research (FDE.13.17) was supported by the Sustainable Beef and Forage Science Cluster funded by the Canadian Beef Cattle Check-Off, Beef Cattle Research Council (BCRC), Alberta Beef Producers, Alberta Cattle Feeders’ Association, Beef Farmers of Ontario, La Fédération des Productuers de bovins du Québec, and Agriculture and Agri-Food Canada’s Canadian Agricultural Partnership. The authors acknowledge the data provided by the Canadian Dairy Network (CND), a member of Lactanet (Guelph, Ontario, Canada). This study was also supported by NSERC (Natural Sciences and Engineering Research Council).