title: Novel harmful recessive haplotypes identified for fertility traits in Nordic Holstein cattle.
abstract: Using genomic data, lethal recessives may be discovered from haplotypes that are common in the population but never occur in the homozygote state in live animals. This approach only requires genotype data from phenotypically normal (i.e. live) individuals and not from the affected embryos that die. A total of 7,937 Nordic Holstein animals were genotyped with BovineSNP50 BeadChip and haplotypes including 25 consecutive markers were constructed and tested for absence of homozygotes states. We have identified 17 homozygote deficient haplotypes which could be loosely clustered into eight genomic regions harboring possible recessive lethal alleles. Effects of the identified haplotypes were estimated on two fertility traits: non-return rates and calving interval. Out of the eight identified genomic regions, six regions were confirmed as having an effect on fertility. The information can be used to avoid carrier-by-carrier mattings in practical animal breeding. Further, identification of causative genes/polymorphisms responsible for lethal effects will lead to accurate testing of the individuals carrying a lethal allele.
authors.affiliation: Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, Tjele, Denmark.
authors.forename: Goutam
authors.initials: G
authors.lastname: Sahana
authors.affiliation: Knowledge Center for Agriculture, Aarhus, Denmark.
authors.forename: Ulrik Sander
authors.initials: US
authors.lastname: Nielsen
authors.affiliation: Nordic Cattle Genetic Evaluation, Aarhus, Denmark.
authors.forename: Gert Pedersen
authors.initials: GP
authors.lastname: Aamand
authors.affiliation: Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, Tjele, Denmark.
authors.forename: Mogens Sandø
authors.initials: MS
authors.lastname: Lund
authors.affiliation: Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, Tjele, Denmark.
authors.forename: Bernt
authors.initials: B
authors.lastname: Guldbrandtsen
mesh_terms: D000818:Animals; D001947:Breeding / Q000706:statistics & numerical data*; D002417:Cattle; D005260:Female; D005298:Fertility / Q000235:genetics*; D005804:Genes, Lethal; D005819:Genetic Markers; D060005:Genotyping Techniques; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers