scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs.

2020 ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

Abstract Background: Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts. Results: A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1,818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10 -43 ). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 ( BMP15 , Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10 -83 ) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth. Conclusion: Our results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

Abstract Background Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts. Results A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10− 43). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (BMP15; Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth. Conclusion Our results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs

2020 ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

AbstractBackgroundAtypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts.ResultsA case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1,818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10-43). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth.ConclusionOur results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs.

2020 ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

Abstract Background: Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts.Results: A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1,818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10-43). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (BMP15; Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth.Conclusion: Our results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs.

2020 ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

Abstract Background Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts.Results A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1,818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10-43). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (BMP15; Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth.Conclusion Our results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs.

2020 ◽  
Author(s):  
Gabriele Flossmann ◽  
Christine Wurmser ◽  
Hubert Pausch ◽  
Amabel Tenghe ◽  
Jörg Dodenhoff ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Nonsense Mutation ◽  
Mutant Allele ◽  
Breeding Population ◽  
Dependent Manner ◽  
Lean Meat ◽  
Genetic Causes ◽  
Morphogenetic Protein ◽  
Bone Morphogenetic Protein 15

Abstract Background: Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes. We performed a GWAS to unravel the causes of incidental cases of atypically small vulvae in German Landrace gilts.Results: A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1,818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10− 43). Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (Sscrofa11.1_X:g.44618787C > T, BMP15:p.R212X). The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41 ± 0.02 (P = 4.5 × 10− 83) piglets more than wildtype animals. However, the mutant allele’s positive effect on litter size accompanies a negative impact on lean meat growth.Conclusion: Our results provide an example for the power of GWAS in identifying the genetic causes of a fuzzy phenotype and add to the list of natural deleterious BMP15 mutations that affect fertility in a dosage-dependent manner, the first time in a poly-ovulatory species. We advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows.

scholarly journals Genetic polymorphism detection in bone morphogenetic protein 15 (BMP15) gene related to fecundity in two Egyptian sheep breeds

2017 ◽  
Vol 33 (1) ◽  
pp. 37-53 ◽  
Author(s):  
Fiky El ◽  
Gamal Hassan ◽  
Mohamed Nassar
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Phylogenetic Analyses ◽  
Restriction Enzymes ◽  
Ovis Aries ◽  
Exon 2 ◽  
Sheep Breeds ◽  
Morphogenetic Protein ◽  
Molecular Phylogenetic ◽  
Bone Morphogenetic Protein 15

This study was intended to detect the polymorphism of bone morphogenetic protein 15 (BMP15) gene that can act as marker influencing fertility for increasing litter size in Egyptian sheep breeds (191 Saidi and 145 Ossimi females). In this study, the mean litter size, showed highly significant between Saidi and Ossimi sheep breads, however, litter size of Saidi white sheep was significantly decreased compared to black and brown. Blood samples were collected from 19 Saidi and 13 Ossimi female and then genomic DNA was extracted. A portion of bone morphogenetic protein 15 (BMP15) gene, 310 bp was amplified using specific primers, and was sequenced and analyzed to clarify the phylogenetic relationship of Egyptian breed sheep. The data suggested that the gene shared a similarity in sequence compared to 9 accession numbers of Ovis aries found in GenBank. Molecular phylogenetic analyses were performed based on nucleotide sequences in order to examine the position of the Egyptian breeds among many other sheep breeds. The results indicate that 5 accession numbers of Ovis aries are closely related with Ossimi and Saidi female that produce single or twins lamb in UPGMA analysis. In addition, PCR-RFLP method using Pst1 and Msp1 restriction enzymes was used to mask polymorphisms of partial exon 2 in 18 female sheep. Results showed that FecX gene was monomorphic and disagreement with litter size, therefore, it is indispensable to survey other gene in order to establish marker assisted selection technique.

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