Novel effects of identified SNPs within the porcine Pregnancy-Associated Glycoprotein gene family (pPAGs) on the major reproductive traits in Hirschmann hybrid-line sows

Panasiewicz, Grzegorz; Bieniek-Kobuszewska, Martyna; Lipka, Aleksandra; Majewska, Marta; Jedryczko, R.; Szafrańska, Bożena

doi:10.1016/j.rvsc.2017.03.015

Cited by 5 publications

(5 citation statements)

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“…The identified placental glycoprotein presumably can be used as a novel biomarker for prenatal pregnancy diagnosis of embryo/fetus well-being by a noninvasive test based on concentration measurement in peripheral maternal blood, similar to β-hCG test in the human as well as various PAG tests in the ruminants. In addition, the identified cDNA (ORF) and 9-exonic and 8-intronic gDNA sequences provide a major pattern of SNPs/InDels required for a novel marker preparation profitable for genotyping and detection of various genomic disorders in embryo/fetus and mother, similar to our report on SNPs/InDels for the pig [46,64] and the European moose [58]…”

Section: Discussionsupporting

confidence: 82%

Identification of Novel Placentally Expressed Aspartic Proteinase in Humans

Majewska

Lipka

Panasiewicz

et al. 2017

IJMS

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This study presents pioneering data concerning the human pregnancy-associated glycoprotein-Like family, identified in the genome, of the term placental transcriptome and proteome. RNA-seq allowed the identification of 1364 bp hPAG-L/pep cDNA with at least 56.5% homology with other aspartic proteinases (APs). In silico analyses revealed 388 amino acids (aa) of full-length hPAG-L polypeptide precursor, with 15 aa-signal peptide, 47 aa-blocking peptide and 326 aa-mature protein, and two Asp residues (D), specific for a catalytic cleft of the APs (VVFDTGSSNLWV91-102 and AIVDTGTSLLTG274-285). Capillary sequencing identified 9330 bp of the hPAG-L gene (Gen Bank Acc. No. KX533473), composed of nine exons and eight introns. Heterologous Western blotting revealed the presence of one dominant 60 kDa isoform of the hPAG-L amongst cellular placental proteins. Detection with anti-pPAG-P and anti-Rec pPAG2 polyclonals allowed identification of the hPAG-L proteins located within regions of chorionic villi, especially within the syncytiotrophoblast of term singleton placentas. Our novel data extend the present knowledge about the human genome, as well as placental transcriptome and proteome during term pregnancy. Presumably, this may contribute to establishing a new diagnostic tool for examination of some disturbances during human pregnancy, as well as growing interest from both scientific and clinical perspectives.

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Section: Discussionsupporting

confidence: 82%

Identification of Novel Placentally Expressed Aspartic Proteinase in Humans

Majewska

Lipka

Panasiewicz

et al. 2017

IJMS

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“…Genetic factors are more stable and easier to select than the more volatile nutrition and environmental factors in regulating goats’ fertility process [5,6,7]. The last decade has witnessed the development of the molecular genetic breeding method in livestock, such as C657T and G749C mutations in the Pregnancy-Associated Glycoprotein gene family ( PAGs ), which has significantly increased the number of live-born piglets ( p ≤ 0.05) in Hirschmann hybrid-line sows [8]. Genome-wide association analysis and gene set enrichment analysis identified 22 quantitative trait loci (QTLs) and nine gene sets that were closely associated with cattle pregnancy establishment [9].…”

Section: Introductionmentioning

confidence: 99%

Genetic Effects of Single Nucleotide Polymorphisms in the Goat GDF9 Gene on Prolificacy: True or False Positive?

Wang

Yang

Zhang

et al. 2019

Animals

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Simple SummaryAs an important regulator factor, which was secreted by female oocytes, the growth differentiation factor 9 (GDF9) plays an essential role during the growth and differentiation of ovarian follicles. Single nucleotide polymorphisms (SNPs) within the GDF9 gene have been found to be involved in reproductive traits in livestock, and some of these mutations have been used as the effective makers in animal molecular breeding. However, it is remarkable that the SNPs of the goat GDF9 gene have not been systematically sorted and analyzed from the reported studies, which leads to an inability to find effective loci that could be applied in improving the prolificacy of goats via the molecular breeding method. In this study, we gathered and sorted 45 SNPs of the goat GDF9 gene from all relevant studies and the National Center for Biotechnology Information Search database (NCBI), and especially analyzed and discussed the relationship between part controversial and potentially effective SNPs and the reproductive traits. The results indicated that non-synonymous SNPs A240V, Q320P, and V397I and synonymous SNPs L61L, N121N, and L141L were six “true” positive SNPs in improving goat fertility. Nevertheless, the regulation pathways and the specific mechanism of these six SNPs on goat fecundity are not clear, which still need further study in more goat breeds and a large sample size. These results provided an effective tool for follow-up research studies on the molecular genetic breeding of goats’ reproductive traits.AbstractGoat reproductive traits are complex quantitative traits controlled by polygenes and multipoint. To date, some high-fertility candidate genes in livestock have been unearthed and the growth differentiation factor 9 (GDF9) gene is one of them, which plays a crucial role in early folliculogenesis. According to the relevant previous studies and the National Center for Biotechnology Information Search database (NCBI), a total of 45 single nucleotide polymorphisms (SNPs) have been detected in the goat GDF9 gene, but which one or which ones have important effects on goat fecundity is still uncertain. Hence, in order to find effective molecular markers for goat genetic breeding and accelerate the goat improvement, this study summarized and classified the above 45 SNPs into four kinds, as well as compared and analyzed the same SNP effects and the different SNPs linkage effects on the reproductive traits in different goat breeds. Since there were many SNPs in the goat GDF9 gene, only 15 SNPs have been identified in more than 30 goat breeds worldwide and they showed different effects on the litter size. Therefore, this study mainly chose these 15 SNPs and discussed their relationship with goat productivity. Results showed that three non-synonymous SNPs A240V, Q320P, and V397I and three synonymous ones L61L, N121N, and L141L played a “true” role in the litter size trait in many goat breeds around the world. However, the regulatory mechanisms still need further research. These results provide an effective tool ...

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“…Lately, our other results qualify the pPAG2-Ls as candidate genes of the main QTLs due to discovery that one diplotype, localized in exon 6 (657C>T/751G>C; pPAG2 ORF cDNA numbering; L34361), caused amino acid substitutions (Asp 220 →Asn and Ser 250 →Thr) in the polypeptide precursors, was associated with an increase in the number of live-born piglets (P ≤ 0.05) in the Hirschmann hybrid sows (PANASIEWICZ et al, 2017).…”

Section: Discussionmentioning

confidence: 67%

Identification of 1093-bp intron A, SNPS and indels discovered in the porcine pregnancy-associated glycoprotein 2-like (pPAG2-L) gene subfamily in pigs

2020

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The objective of this study was to identify the intron A sequence (between exons 1 and 2) of pPAG2-L, novel single nucleotide polymorphisms (SNPs) and mutations (InDels) within intron A in the crossbreed (Landrace x Large White), Hirshmann hybrid and Duroc pigs. Genomic templates were isolated from leukocytes, amplified, and the gel-out were purified and then sequenced. Positive amplification control included CH242-60C13 BAC clone (Duroc) containing pPAG1-L and pPAG2-L. This is the first report that describes the 1093-bp intron A sequence from the pPAG2-L (Acc. No. KF471015; GenBank), which increased general knowledge of the porcine genome. Novel SNPs/InDels were identified within the intron A of the pPAG2-L in the crossbreeds (72), Duroc (45) and Hirshmann hybrids (17). This is a pioneer study describing identification of the intron A and SNPs/InDels in crossbreeds that provides a novel major pattern that represents a large portion of the genetic variation within the porcine genome. This information should be valuable when genotyping (coding and noncoding regions) multiparous sows from many breeds, in which reproductive phenotypes are known.

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Novel effects of identified SNPs within the porcine Pregnancy-Associated Glycoprotein gene family (pPAGs) on the major reproductive traits in Hirschmann hybrid-line sows

Cited by 5 publications

References 54 publications

Identification of Novel Placentally Expressed Aspartic Proteinase in Humans

Identification of Novel Placentally Expressed Aspartic Proteinase in Humans

Genetic Effects of Single Nucleotide Polymorphisms in the Goat GDF9 Gene on Prolificacy: True or False Positive?

Identification of 1093-bp intron A, SNPS and indels discovered in the porcine pregnancy-associated glycoprotein 2-like (pPAG2-L) gene subfamily in pigs

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