Correction: The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB

Schütz, Ekkehard; Wehrhahn, Christin; Wanjek, Marius; Bortfeld, Ralf; Wemheuer, Wiebke M.; Beck, Julia; Brenig, Bertram

doi:10.1371/journal.pone.0157618

Cited by 13 publications

(7 citation statements)

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“…Detection was originally based on the lack of homozygotes for the haplotype harboring the lethal allele and a reduction in fertility rate for daughters of sires that received this haplotype. In several cases, the causative polymorphism has been determined (e.g., Schütz et al, 2016). Because the abortion is generally not observed, pregnancies that result in fetuses homozygous for the lethal alleles are recorded as "nonconception.…”

Section: Genetic and Genomic Analysis Of Long Insemination Interval In Israeli Dairy Cattle As An Indicator Of Early Abortionsmentioning

confidence: 99%

Genetic and genomic analysis of long insemination interval in Israeli dairy cattle as an indicator of early abortions

Gershoni

Ezra

Weller

2020

Journal of Dairy Science

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One of the causes of observed low fertility is embryo loss after fertilization. Previous findings suggested that more than half of fertilizations result in embryo loss before pregnancy is detected. We proposed reinsemination between 49 and 100 d after the first insemination as an indicator trait for early abortion (EA) in dairy cattle based on the mean estrus interval of 21 d. This trait was compared with conception rate from first insemination and conception status, computed as the inverse of the number of inseminations to conception. Animal model variance components were estimated by REML, including parents and grandparents of cows with records. First-parity heritability for first insemination conception rate was 3%. In the multitrait analysis of parities 1 to 3 for putative EA, heritabilities ranged from 8.9% for first parity to 10.4% for second parity. All genetic correlations were >0.9, whereas all environmental correlations were <0.12. The variance component for the service sire effect for putative EA rate was less than half the variance component for conception rate. Thus, genetic control of the 2 traits is clearly different, and analysis of EA rate by a single-trait animal model is justified. Genetic evaluation for putative EA was computed using this model, including all first-through third-parity cows with freshening dates from January 1, 1985, through December 31, 2016, that either became pregnant on first insemination or were reinseminated between 49 and 100 d after the first insemination. All known parents and grandparents of cows with records were included in the analysis. The regression of the breeding value for non-abortion rate on the cows' birth year was 0.083%/yr. The genetic correlation between first-parity EA and conception status was 0.995. The genetic correlations between first-parity EA and milk, fat, and protein production were all negative, whereas the genetic correlation between EA and herd life was 0.33. Inclusion of putative EA in the selection index instead of conception status resulted in 10 to 20% greater genetic gain for both fertility traits. In a genome-wide association study based on 1,200 dairy bulls with reliabilities >50% for abortion rate genotyped for 41,000 markers, 6 markers were found with nominal probabilities of <10 −12 to reject the null hypothesis of no effect on EA rate. The markers with the lowest probabilities for EA rate were also included among the markers with the lowest probabilities for female fertility, but not vice versa. The marker explaining the most variance for abortion rate is located within the ABCA9 gene, which is found within an ATP-binding cassette (ABC) genes cluster. The ABC family is the major class of primary active transporters in the placenta.

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Section: Genetic and Genomic Analysis Of Long Insemination Interval In Israeli Dairy Cattle As An Indicator Of Early Abortionsmentioning

confidence: 99%

Genetic and genomic analysis of long insemination interval in Israeli dairy cattle as an indicator of early abortions

Gershoni

Ezra

Weller

2020

Journal of Dairy Science

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“…Therefore, HCD defect could be diagnosed only by molecular testing. In our research, we did not find valid deviations from the normal values in blood biochemical indicators of HCD carriers, which could be due both to small sample size, as well as to genetically determined compensatory mechanisms in several animals [11,31].…”

Section: Dispersion Analysis Of Breeding Value Estimates Of Blackmentioning

confidence: 55%

“…This preterm stop-codon in open APOB gene reading frame caused truncation of protein length by 140 amino acids. It was established that such preterm reduction results in inability to remove chylomicrons from the intestinal cells, which causes cholesterol malabsorption [11]. Apolipoprotein B (APOB) is necessary for synthesis of chylomicrons and lipoproteins of very low density in the intestines and liver.…”

Section: Introductionmentioning

confidence: 99%

Cholesterol Deficiency Mutation HCD Does Not Impact Milk Productivity and Blood Levels of Cholesterol and Triglycerides in Russian Holstein Black and White Cattle

Pozovnikova¹,

Lihacheva²,

Kudinov³

et al. 2018

s-h. biol.

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A b s t r a c tThe spread of lethal and semi-lethal mutations in cattle populations results in embryonic and postembryonic mortality of calves. The use of a limited number of sires creates the danger of wide spread of genetic abnormalities. Genetic markers identify carriers of a mutation in the absence of information about phenotypic manifestations of the disease. Cholesterol deficiency mutation (HCD, haplotype cholesterol deficiency), a recessive defect of Holstein cattle, is characterized by the death of calves in the first days or months of life. The extent of this genetic defect worldwide is currently very high, 6 to 17 %. In general, there is little information about the relationship of recessive mutations with dairy cattle productivity, and data on the effect of the HCD mutation, first described in 2015, on breeding traits are extremely limited. This paper is the first to report data on a genetic study of the APOB gene region on the BTA11 chromosome and milk production indices depending on the HCD status in a Russian dairy cow population. The obtained results indicate that in the studied population the HCD mutation does not reduce the pedigree value of animals in terms of milk production and milk quality (for fat and protein). The study was performed in a breeding farm of the Leningrad region in 2017. Random sample of Holstein black and white cattle include cows (n = 451) born in 2009-2015 and the calves (n = 7) with clinical signs of diarrhea and proven HCD carriers in pedigree (sires, sires of sires). Genotyping of animals was carried out by PCR using allele specific primers. The productivity of lactation 1 and 2 (milk, yield of milk fat and protein) was studied depending on the genotypes according to HCD. The ANOVA variance analysis and calculation of means were carried out with RStudio program on the basis of a single-effect model. Estimated breeding value of milk, fat and protein yields in kg was calculated using BLUP Animal Model. The concentration of triglycerides and cholesterol was determined with an automatic biochemical analyzer RX Daytona (Randox Laboratories, UK). According to the results of the study, 35 cows (7.76 %) of those tested are the HCD carriers. Among the calves, one calf was defined as a carrier and one heifer with homozygous HCD genotype for APOB gene had all symptoms of the disease. It is established that the HCD + cows are not inferior to their peers on milk productivity. The cows with the mutant allele of the APOB gene born in 2013 significantly exceeded healthy animals: during lactation 1 by 1219 kg (p  0.01) for milking, by 13.8 kg for milk fat yield, and by 19.9 kg for milk protein yield (p  0.05); during lactation 2 by 1392 kg (p  0.001) for milking, by 44 kg (p  0.05) for milk fat yield, and by 39.8 kg for milk protein yield (p  0.01). The average estimated breeding value (EBV) of HCD carriers is 6.8 % higher in milk yield, 8.1 % in fat and 4.8 % in protein compared to HCD  animals. Monitoring of progeny of HCD carriers using Illumina Bovine IBDv3 (50k) did not reveal...

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“…Finding carriers for HH0 (brachypine), HH5 and HCD was expected since the frequencies of these haplotypes in the cattle population are higher than the frequencies of other haplotypes. The frequency of HH0 in the French Holstein cattle population is 7.4 % (Fritz et al, 2013), and it is 3.9 % and 6.7 % for HH5 and HCD, respectively, in the German Holstein cattle population (Schütz et al, 2016).…”

Section: Choosing the Breed Of Animals For Embryo Productionmentioning

confidence: 90%

The use of whole genome amplification for genomic evaluation of bovine embryos

et al. 2019

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The integration of high technologies into livestock production has been actively occurring in the last decade in the countries with a developed animal breeding. First of all, we are talking about reproductive technologies (IVF) and genomic technologies (general genomic evaluation of animal and genomic evaluation of breeding value). Combining reproductive and genomic technologies is a promising approach that allows receiving highquality breeding cattle in the shortest possible time. The basis of the proposed technology for accelerated reproduction of high-value breeding cattle is to obtain information about the genome of the embryo for genomic evaluation. The amount of genetic material that can be obtained for research is extremely limited, as it is necessary to preserve the viability of the embryo. The stage of the whole genome amplification was introduced to obtain a high quality of genetic material in a sufficient quantity. The main purpose of this work is to assess the possibility of using embryo biopsy specimens (bsp) for embryo genotyping using microarray chips and predicting the carrier status of lethal haplotypes at the embryo stage. We obtained 100 cattle embryos, of which 78 biopsy specimens were taken to analysis. For the biopsies obtained we performed the whole genome amplification. The quality and quantity of DNA for all the 78 samples after the whole genome amplification were satisfactory for further genotyping. The quality of the performed genotyping was satisfactory and allowed the assessment of lethal haplotype carriers (determining the sex of the animal and identification of the carrier status for sevenHolsteinlethal haplotypes). We tested 78 embryos. From the genotyping analysis, there was detected one carrier status for three lethal haplotypes, HH0 (Brachyspina), HH5, and HCD. The carrier status of HH0 and HH5 was confirmed by testing the casual mutation using PCR analysis. The carrier status for HCD has not been confirmed by casual mutation analysis. The situation in which an animal is an HCD carrier, but not the carrier of a casual mutation, can be explained. The putative ancestor of the haplotype is the bull HOCAN000000334489 WILLOWHOLME MARK ANTHONY (year of birth is 1975), but a casual mutation associated with this disease has arisen only in his descendant HOCAN000005457798 MAUGHLIN STORM (year of birth is 1991). The results obtained confirm the importance of testing the casual mutation in the animals that are carriers of lethal haplotypes according to the genotyping data.

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Correction: The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB

Abstract: The gene name "TFB1M" is misspelled in the title.

Cited by 13 publications

References 1 publication

Genetic and genomic analysis of long insemination interval in Israeli dairy cattle as an indicator of early abortions

Genetic and genomic analysis of long insemination interval in Israeli dairy cattle as an indicator of early abortions

Cholesterol Deficiency Mutation HCD Does Not Impact Milk Productivity and Blood Levels of Cholesterol and Triglycerides in Russian Holstein Black and White Cattle

The use of whole genome amplification for genomic evaluation of bovine embryos

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