Identification and Analysis of Regulatory Elements in Porcine Bone Morphogenetic Protein 15 Gene Promoter

Wan, Qianhui; Wang, Yaxian; Wang, Huayan

doi:10.3390/ijms161025759

Cited by 6 publications

(3 citation statements)

References 39 publications

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“…Several regulatory elements were evidenced in pig BMP15 promoter hosting consensus-binding sites for LHX8, NOBOX, and PITX1 transcription factors. However, only LHX8 was demonstrated as functionally activating the porcine BMP15 promoter activity (Wan et al, 2015). In human, a regulatory mutation in the 5 UTR of BMP15 (c.-9C > G) was associated to non-syndromic premature ovarian failure (Dixit et al, 2006), and also iatrogenic ovarian hyperstimulation syndrome (Morón et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Identification of a Regulatory Mutation in BMP15 Controlling Prolificacy in Sheep

et al. 2020

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The search for the genetic determinism of prolificacy variability in sheep has evidenced several major mutations in genes playing a crucial role in the control of ovulation rate. In the Noire du Velay (NV) sheep population, a recent genetic study has evidenced the segregation of such a mutation named FecL L . However, based on litter size (LS) records of FecL L non-carrier ewes, the segregation of a second prolificacy major mutation was suspected in this population. In order to identify this mutation, we have combined a case/control genome-wide association study with ovine 50k SNP chip genotyping, whole genome sequencing, and functional analyses. A new single nucleotide polymorphism (OARX:50977717T > A, NC_019484) located on the X chromosome upstream of the BMP15 gene was evidenced to be highly associated with the prolificacy variability (P = 1.93E-11). The variant allele was called FecX N and shown to segregate also in the Blanche du Massif Central (BMC) sheep population. In both NV and BMC, the FecX N allele frequency was estimated close to 0.10, and its effect on LS was estimated at +0.20 lamb per lambing at the heterozygous state. Homozygous FecX N carrier ewes were fertile with increased prolificacy in contrast to numerous mutations affecting BMP15. At the molecular level, FecX N was shown to decrease BMP15 promoter activity and supposed to impact BMP15 expression in the oocyte. This regulatory action was proposed as the causal mechanism for the FecX N mutation to control ovulation rate and prolificacy in sheep.

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Section: Discussionmentioning

confidence: 99%

Genome-Wide Identification of a Regulatory Mutation in BMP15 Controlling Prolificacy in Sheep

et al. 2020

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“…The LIM homeobox 8 (LHX8) gene encodes an LIM homeodomain transcriptional regulator that is preferentially expressed in germ cells and is critical for mammalian oocytes [43]. LHX8 is the primary element that regulates the expression of bone morphogenetic protein 15 in oocytes [44]. Consequently, these TFs warrant attention, and their potential regulatory roles and epistatic modifications in endometrial and uterine gland development are of great interest.…”

Section: Discussionmentioning

confidence: 99%

An Integrative ATAC-Seq and RNA-Seq Analysis of the Endometrial Tissues of Meishan and Duroc Pigs

Zhang,

Liu,

Wang

et al. 2023

IJMS

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Meishan pigs are a well-known indigenous pig breed in China characterized by a high fertility. Notably, the number of endometrial grands is significantly higher in Meishan pigs than Duroc pigs. The characteristics of the endometrial tissue are related to litter size. Therefore, we used the assay for transposase-accessible chromatin with sequencing (ATAC-seq) and RNA-sequencing (RNA-seq) to analyze the mechanisms underlying the differences in fecundity between the breeds. We detected the key transcription factors, including Double homeobox (Dux), Ladybird-like homeobox gene 2 (LBX2), and LIM homeobox 8 (Lhx8), with potentially pivotal roles in the regulation of the genes related to endometrial development. We identified the differentially expressed genes between the breeds, including SOX17, ANXA4, DLX3, DMRT1, FLNB, IRF6, CBFA2T2, TFCP2L1, EFNA5, SLIT2, and CYFIP2, with roles in epithelial cell differentiation, fertility, and ovulation. Interestingly, ANXA4, CBFA2T2, and TFCP2L1, which were upregulated in the Meishan pigs in the RNA-seq analysis, were identified again by the integration of the ATAC-seq and RNA-seq data. Moreover, we identified genes in the cancer or immune pathways, FoxO signaling, Wnt signaling, and phospholipase D signaling pathways. These ATAC-seq and RNA-seq analyses revealed the accessible chromatin and potential mechanisms underlying the differences in the endometrial tissues between the two types of pigs.

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“…Ovine BMP-15 gene plays a vital role in the growth and differentiation of early ovulation follicles and increased ovulation rate and LS under heterozygous conditions [25]. Interestingly, homozygous carriers for this mutation were infertile in some sheep breeds [7].…”

Section: The Relationship Between Fertility and The Prevalence Of Bmpmentioning

confidence: 99%

BMPR-1B, BMP-15 and GDF-9 genes structure and their relationship with litter size in six sheep breeds reared in Egypt

et al. 2020

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Objective: The aim of this work was to investigate three different mutations; Fec-B, FecX G , Fec-G H at three candidate genes; Bone morphogenetic protein receptor IB, Bone morphogenetic protein 15 and Growth Differentiation Factor 9, respectively, in six sheep breeds reared in Egypt namely; Rahmani, Barki, Rahmani X Barki cross, Awassi, Awassi X Suffolk cross, and Ossimi and their association with litter size.Results: Genomic DNA of 132 sheep was investigated for the Fec-B, FecX G , and Fec-G H mutations by Restriction Fragment Length Polymorphism, Single-Stranded Conformation Polymorphism and DNA sequencing. The results revealed that all breeds did not carry Fec-B mutation. On the other side, the mutations of FecX G , and Fec-G H were detected in Rahmani, and Rahmani X Barki cross which is associated with the high twinning rate/litter size of Rahmani (1.28) and Rahmani X Barki cross (1.22). While, the average litter size for other breeds had almost a constant values rate over six parities, ranging between 1.00 and 1.04.

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Identification and Analysis of Regulatory Elements in Porcine Bone Morphogenetic Protein 15 Gene Promoter

Cited by 6 publications

References 39 publications

Genome-Wide Identification of a Regulatory Mutation in BMP15 Controlling Prolificacy in Sheep

Genome-Wide Identification of a Regulatory Mutation in BMP15 Controlling Prolificacy in Sheep

An Integrative ATAC-Seq and RNA-Seq Analysis of the Endometrial Tissues of Meishan and Duroc Pigs

BMPR-1B, BMP-15 and GDF-9 genes structure and their relationship with litter size in six sheep breeds reared in Egypt

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