The Effect of Using DNA Obtained from Blood of Cattle with Genetic Chimerism on Illumina’s Beadchip Assay Performance

Gurgul, Artur; Rubiś, Dominika; Bugno‐Poniewierska, Monika

doi:10.2478/aoas-2014-0011

Cited by 4 publications

(9 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DNA for animal W0045 was extracted from blood, which was the only available tissue, and was genotyped twice with Illumina’s BovineSNP50 BeadChip. Low call rates of 0.95 and 0.96, respectively, were obtained which is typical of chimeric individuals [ 45 ]. In order to genotype samples for the candidate SNP at position 49,878,773 bp (rs800397662) more efficiently, a specifically designed KASPar™ Genotyping System (LGC, Teddington, UK) was used.…”

Section: Resultsmentioning

confidence: 99%

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Kunz

Pausch²,

Schwarzenbacher³

et al. 2016

Genet Sel Evol

View full text Add to dashboard Cite

BackgroundBovine progressive degenerative myeloencephalopathy (Weaver syndrome) is a neurodegenerative disorder in Brown Swiss cattle that is characterized by progressive hind leg weakness and ataxia, while sensorium and spinal reflexes remain unaffected. Although the causal mutation has not been identified yet, an indirect genetic test based on six microsatellite markers and consequent exclusion of Weaver carriers from breeding have led to the complete absence of new cases for over two decades. Evaluation of disease status by imputation of 41 diagnostic single nucleotide polymorphisms (SNPs) and a common haplotype published in 2013 identified several suspected carriers in the current breeding population, which suggests a higher frequency of the Weaver allele than anticipated. In order to prevent the reemergence of the disease, this study aimed at mapping the gene that underlies Weaver syndrome and thus at providing the basis for direct genetic testing and monitoring of today’s Braunvieh/Brown Swiss herds.ResultsCombined linkage/linkage disequilibrium mapping on Bos taurus chromosome (BTA) 4 based on Illumina Bovine SNP50 genotypes of 43 Weaver-affected, 31 Weaver carrier and 86 Weaver-free animals resulted in a maximum likelihood ratio test statistic value at position 49,812,384 bp. The confidence interval (0.853 Mb) determined by the 2-LOD drop-off method was contained within a 1.72-Mb segment of extended homozygosity. Exploitation of whole-genome sequence data from two official Weaver carriers and 1145 other bulls that were sequenced in Run4 of the 1000 bull genomes project showed that only a non-synonymous SNP (rs800397662) within the PNPLA8 gene at position 49,878,773 bp was concordant with the Weaver carrier status. Targeted SNP genotyping confirmed this SNP as a candidate causal mutation for Weaver syndrome. Genotyping for the candidate causal mutation in a random sample of 2334 current Braunvieh animals suggested a frequency of the Weaver allele of 0.26 %.ConclusionsThrough combined use of exhaustive sequencing data and SNP genotyping results, we were able to provide evidence that supports the non-synonymous mutation at position 49,878,773 bp as the most likely causal mutation for Weaver syndrome. Further studies are needed to uncover the exact mechanisms that underlie this syndrome.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-016-0201-5) contains supplementary material, which is available to authorized users.

show abstract

Section: Resultsmentioning

confidence: 99%

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Kunz

Pausch²,

Schwarzenbacher³

et al. 2016

Genet Sel Evol

View full text Add to dashboard Cite

show abstract

“…The SNP arrays use a combination of intensity (genomic dosage) and genotyping data from different tissues that provide high-resolution means to the differentiation of chimerism and mosaicism, since the additional presence of extra genotypes in the chimeras is readily detectable. Concretely, in the case of blood chimerism (associated with the occurrence of anastomoses), the mixed genetic profiles present in one blood sample can be easily recognized by the analysis of intensity parameters (copy number), which deviate from the expected values [33]. The use of modern cytogenetic and molecular techniques in the study of cell chimerism provides an increase in the diagnostic potential, which is necessary to determine freemartinism in very young female calves.…”

Section: Discussionmentioning

confidence: 99%

Early Diagnostics of Freemartinism in Polish Holstein-Friesian Female Calves

Kozubska‐Sobocińska

Smołucha

Danielak-Czech

2019

Animals

View full text Add to dashboard Cite

Simple SummaryFreemartinism is the most common type of gender developmental disorder, resulting in infertility of heifers from multiple-sex twin pregnancies. The frequency of this syndrome is related to the frequency of multiple pregnancies, the number of which has significantly increased in dairy cattle populations (HF). Therefore, rapid diagnostics is necessary to enable early elimination of heifers with freemartinism from breeding. The aim of the study was to compare and identify the best method for early identification of freemartinism. The use of cytogenetic and molecular methods (PCR, short tandem repeats (STRs), real-time PCR) allowed us to conclude that molecular methods are more effective and guarantee fast and precise diagnosis. An additional advantage of molecular methods is the easy way to collect test material, which can be frozen, unlike blood samples for cytogenetic analysis, which must be fresh and delivered within 24 h to the laboratory, which generates further costs.AbstractFreemartinism in females born from heterosexual multiple pregnancies is characterized by the presence of XX/XY cell lines due to the formation of a shared blood system by anastomoses between fetal membranes of co–twins and leads to disturbed development of the reproductive system, including infertility. The aim of this study was to estimate the most precise and effective diagnostic method, especially useful for early identification of freemartinism in young female calves. The cytomolecular evaluation results of 24 Holstein-Friesian heifers from heterosexual twins was verified by molecular techniques: PCR, short tandem repeats (STRs), and relative quantitative PCR. The molecular analyses have been found to be a more efficient testing strategy, with a higher diagnostic success rate than karyotype evaluation. In 21 heifers, leucocyte chimerism determined by the 60, XX/60, XY karyotype was revealed—the proportion of the 60, XY male cell line in individual animals was in the range of 4–66%. In three cases, a normal karyotype 60, XX was identified, which indicates that anastomoses did not occur in 12.5% of studied twins and suggests that these potentially fertile heifers can be qualified for further breeding. The precise and early identification of freemartinism can be the basis for guidelines and selection recommendations concerning the reproductive performance of heifers born from heterosexual multiple pregnancies.

show abstract

“…While MZ animals are genetically identical, DZ are genetically distinguishable. Furthermore, placental vascular anastomoses cause chimerism in DZ animals (Gurgul, Rubiś, & Bugno‐Poniewierska, 2014; Ron, Porat, Band, & Weller, 2011). Chimerism can be easily detected in male/female twins using sex chromosome markers (Ron et al., 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Chimerism can be easily detected in male/female twins using sex chromosome markers (Ron et al., 2011). However, in cases of same‐sex twins, the chimeric situation could be different between tissues and could be misleading (Gurgul et al., 2014; Ron et al., 1995). Notwithstanding, animals born as single calves can be chimeras when one of the foetal twins dies undetected in utero (Seguin, Zhang, Buoen, Weber, & Ruth, 2000).…”

Section: Introductionmentioning

confidence: 99%

“…In genetic evaluation programs, the differentiation of MZ from DZ twins is needed for a correct relationship assignment, because would affect the genetic merit estimation (Gurgul et al., 2014). Moreover, in multiple births combinations of different zygote conditions can occur, as was reported for a septuplet pregnancy (Fischer & Hofmeister, 2013).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Naturally monozygotic quadruplets in a Braford cow confirmed by DNA analysis: A case report

Rogberg-Muñoz

Castillo

Zappa

et al. 2020

Reprod Domestic Animals

View full text Add to dashboard Cite

Cattle are a monotocous species, despite naturally conceived multiple births are sometimes observed. Although the number of twins has consistently increased, triplet and quadruplet pregnancies represent 0.015% and 0.004% of the total births, respectively. Multiple births are the result of multiple ovulation and/or the spontaneous cleavage of one fertilized oocyte, which is known as monozygotic (MZ) twinning. In cattle, approximately 5% to 14% of all twin births are MZ, and births with more than two MZ calves are extremely rare. Monozygotic animals are genetically identical, and those derived from two or more zygotes are genetically different. Furthermore, the presence of placental vascular anastomosis can result in foetal chimerism. Notwithstanding, animals born as single calves can be chimeras when one of the foetal twins dies undetected in utero. Here, we used DNA testing to study the zygotic condition of an unusual female quadruplet born from a Braford cow bred in a multi‐sire natural mating system without hormone stimulation. Two tissues with different embryological origin were sampled to test zygosity and possible chimerism. The results showed an identical genotype, confirming they all originated in an MZ pregnancy and suggesting the lack of chimerism in all animals. The use of MZ twins in breeding and selection systems provides an alternative to the conventional progeny testing. Some works have suggested a genetic background of MZ twins in humans. This female and her daughters could be the founders of a lineage to study the possible inheritance of MZ multiple births in cattle.

show abstract

The Effect of Using DNA Obtained from Blood of Cattle with Genetic Chimerism on Illumina’s Beadchip Assay Performance

Cited by 4 publications

References 15 publications

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Early Diagnostics of Freemartinism in Polish Holstein-Friesian Female Calves

Naturally monozygotic quadruplets in a Braford cow confirmed by DNA analysis: A case report

Contact Info

Product

Resources

About