Estimating the effect of the deleterious recessive haplotypes AH1 and AH2 on reproduction performance of Ayrshire cattle

Guarini, A.R.; Sargolzaei, Mehdi; Brito, Luiz F.; Kroezen, V.; Lourenço, Daniela; Baes, C.F.; Miglior, F.; Cole, John B.; Schenkel, F.S.

doi:10.3168/jds.2018-15366

Cited by 13 publications

(13 citation statements)

References 23 publications

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“…Economic damage on farms is due not only to calf loss, but also to a number of costs for additional veterinary maintenance of the cow (Mahnani et al 2018). Our data indicate that during insemination of the daughters of bulls AH1-C by bulls for service AH1-C, the stillbirth rate increases significantly, which is consistent with the data of Guarini et al (2019). According to Storlien (2018), in NRC the proportion of stillbirths is approximately 2% higher in calves whose father and grandfather have AH1 (4.93%) than in calves whose father and grandfather do not have AH1 (3.11%).…”

Section: Discussionsupporting

confidence: 89%

“…According to the Canadian Dairy Network, analysis of pedigrees and genotyping of bulls made it possible to determine that the occurrence of the AH1 genetic defect over the past 35 years ranged from 17% to 30% (Van Doormaal 2017). The main reasons for the high prevalence of his haplotype in the Ayrshire breed are the use of a limited number of bulls for service, small population, high inbreeding and a decline in genetic diversity (Melka et al 2013;Guarini et al 2019).…”

Section: Original Papermentioning

confidence: 99%

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Monitoring and significance of the recessive genetic defect AH1 of Ayrshire cattle

Pozovnikova¹,

Tulinova²,

Krutikova³

et al. 2020

CZECH J ANIM SCI

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Modern dairy farming is characterised by high selection intensity and the use of a limited number of bulls-producers. This increases the likelihood of widespread genetic defects in livestock populations. Genome-wide studies have identified DNA loci associated with the disruption of foetal embryonic development and its death, which have been called “fertility haplotypes”. The aim of this study is to analyse the occurrence of АН1 haplotype or rs475678587 in Ayrshire bulls (n = 186) used in the artificial insemination system of Russia and to evaluate the reproductive and productive qualities of their daughters. The proportion of genetic defect carrier bulls in the analysed sample cohort was 16.66%. Analysis of the proportion of carriers of unwanted haplotype depending on the place of birth of the bull for service showed that the highest frequency was observed in bulls of Canadian origin (26.66%). Based on data on 97 478 cow and heifer calvings, stillbirth and abortion rates were analysed and cow reproduction rates were based on an AH1 status for the bull-father and bull for service. We observed a significant increase (P < 0.05 and P < 0.001) in the incidence of stillbirths when crossing the daughters of AH1-C bulls with AH1-C bulls. There was no negative association of abortion rates and reproductive qualities with AH1 haplotype. The high incidence of AH1 haplotype among animals of Ayrshire breed requires regular screening for the carriers of this haplotype not only among bulls, but also in cows.

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Section: Discussionsupporting

confidence: 89%

Section: Original Papermentioning

confidence: 99%

Monitoring and significance of the recessive genetic defect AH1 of Ayrshire cattle

Pozovnikova¹,

Tulinova²,

Krutikova³

et al. 2020

CZECH J ANIM SCI

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“…Consequently, this leads to an increase in the level of inbreeding, a reduction in the effective population size (N e ) and the random loss or fixation of alleles caused by genetic drift and selection. Furthermore, a loss of fitness and reduction in mean value of any trait of interest due to the exposure and accumulation of deleterious recessive homozygotes has been observed across numerous studies and is more evident for lowly heritable traits (VanRaden et al, 2011a;Bjelland et al, 2013;Pryce et al, 2014;Baes et al, 2019;Guarini et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Effect of genomic selection on rate of inbreeding and coancestry and effective population size of Holstein and Jersey cattle populations

Makanjuola

Miglior

Abdalla

et al. 2020

Journal of Dairy Science

124

111

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Genetic diversity in livestock populations is a significant contributor to the sustainability of animal production. Also, genetic diversity allows animal production to become more responsive to environmental changes and market demands. The loss of genetic diversity can result in a plateau in production and may also result in loss of fitness or viability in animal production. In this study, we investigated the rate of inbreeding (ΔF), rate of coancestry (Δf), and effective population size (N e ) as important quantitative indicators of genetic diversity and evaluated the effect of the recent implementation of genomic selection on the loss of genetic diversity in North American Holstein and Jersey dairy cattle. To estimate the rate of inbreeding and coancestry, inbreeding and coancestry coefficients were calculated using the traditional pedigree method and genomic methods estimated from segment-and marker-based approaches. Furthermore, we estimated N e from the rate of inbreeding and coancestry and extent of linkage disequilibrium. A total of 205,755 and 89,238 pedigreed and genotyped animals born between 1990 and 2018 inclusively were available for Holsteins and Jerseys, respectively. The estimated average pedigree inbreeding coefficients were 7.74 and 7.20% for Holsteins and Jerseys, respectively. The corresponding values for the segment and markerby-marker genomic inbreeding coefficients were 13.61, 15.64, and 31.40% for Holsteins and 21.16, 22.54, and 42.62% for Jerseys, respectively. The average coancestry coefficients were 8.33 and 15.84% for Holsteins and 9.23 and 23.46% for Jerseys with pedigree and genomic measures, respectively. Generation interval for the whole 29-yr time period averaged approximately 5 yr for all selection pathways combined. The ΔF per generation based on pedigree, segment, and marker-bymarker genomic measures for the entire 29-yr period was estimated to be 0.75, 1.10, 1.16, and 1.02% for Holstein animals and 0.67, 0.62, 0.63, and 0.59% for Jersey animals, respectively. The Δf was estimated to be 0.98 and 0.98% for Holsteins and 0.73 and 0.78% for Jerseys with pedigree and genomic measures, respectively. These ΔF and Δf translated to an N e that ranged from 43 to 66 animals for Holsteins and 64 to 85 animals for Jerseys. In addition, the N e based on linkage disequilibrium was 58 and 120 for Holsteins and Jerseys, respectively. The 10-yr period that involved the application of genomic selection resulted in an increased ΔF per generation with ranges from 1.19 to 2.06% for pedigree and genomic measures in Holsteins. Given the rate at which inbreeding is increasing after the implementation of genomic selection, there is a need to implement measures and means for controlling the rate of inbreeding per year, which will help to manage and maintain farm animal genetic resources.

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“…Many autosomal recessive lethal loci have been distinguished in livestock species such as cattle (e.g. Dong et al 2019;Guarini et al 2019) and the correct mate allocation is expected to reduce the economic losses (Cole et al 2016). Several methods, such as screening for the absence of homozygous haplotypes (e.g.…”

Section: Introductionmentioning

confidence: 99%

“…2019; Guarini et al . 2019) and the correct mate allocation is expected to reduce the economic losses (Cole et al . 2016).…”

Section: Introductionmentioning

confidence: 99%

Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach

et al. 2020

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Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) has been observed in several species, including the mouse and humans. In this study, TRD was characterized in the turkey genome using both allelic (specific-and unspecific-parent TRD) and genotypic (additive-and dominance-TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. The analyses included 500 sires, 2013 dams and 11 047 offspring (trios). Three different haplotype sliding windows of 4, 10 and 20 SNPs were used across the autosomal chromosomes. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals. For regions with the allelic pattern, only one particular region showed a parent-specific TRD where the penetrance was high via the dam, but low via the sire. The gene set analysis uncovered several gene ontology functional terms, Reactome pathways and several Medical Subject Headings that showed significant enrichment of genes associated with TRD. Many of these gene ontology functional terms (e.g. mitotic spindle assembly checkpoint, DRM complex and Aneuploidy), Reactome pathways (e.g. Mismatch repair) and Medical Subject Headings (e.g. Adenosine monophosphate) are known to be related to fertility, embryo development and lethality. The results of this study revealed potential novel candidate lethal haplotypes, functional terms and pathways that may enhance breeding programs in Turkeys through reducing mortality and improving reproduction rate.

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Estimating the effect of the deleterious recessive haplotypes AH1 and AH2 on reproduction performance of Ayrshire cattle

Cited by 13 publications

References 23 publications

Monitoring and significance of the recessive genetic defect AH1 of Ayrshire cattle

Monitoring and significance of the recessive genetic defect AH1 of Ayrshire cattle

Effect of genomic selection on rate of inbreeding and coancestry and effective population size of Holstein and Jersey cattle populations

Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach

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