Single-nucleotide polymorphism analysis of GH, GHR, and IGF-1 genes in minipigs

Tian, Yiming; Yue, Min; Gu, Yin; Gu, Wei; Wang, Y.J.

doi:10.1590/1414-431x20143945

Cited by 10 publications

(7 citation statements)

References 22 publications

(18 reference statements)

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“…Furthermore, primiparous cattle treated with growth hormone-releasing hormone (GHRH) during HS had increased BW gain, milk yield, pregnancy rates, and circulating prolactin (PRL), and reduced mortality (Brown et al, 2008). Polymorphisms within GHR have known to significantly affect growth traits including in pigs and goats (An et al, 2011;Tian et al, 2014). Considering the critical physiological and metabolic role of GHR, SNPs within this gene are likely potential selection candidates for HS tolerance.…”

Section: Resultsmentioning

confidence: 99%

Characterization of the acute heat stress response in gilts: III. Genome-wide association studies of thermotolerance traits in pigs

Kim

Seibert

Edea

et al. 2018

Journal of Animal Science

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Heat stress is one of the limiting factors negatively affecting pig production, health, and fertility. Characterizing genomic regions responsible for variation in HS tolerance would be useful in identifying important genetic factor(s) regulating physiological responses to HS. In the present study, we performed genome-wide association analyses for respiration rate (RR), rectal temperature (TR), and skin temperature (TS) during HS in 214 crossbred gilts genotyped for 68,549 single nucleotide polymorphisms (SNP) using the Porcine SNP 70K BeadChip. Considering the top 0.1% smoothed phenotypic variances explained by SNP windows, we detected 26, 26, 21, and 14 genes that reside within SNPs explaining the largest proportion of variance (top 25 SNP windows) and associated with change in RR (ΔRR) from thermoneutral (TN) conditions to HS environment, as well as the change in prepubertal TR (ΔTR), change in postpubertal ΔTR, and change in TS (ΔTS), respectively. The region between 28.85 Mb and 29.10 Mb on chromosome 16 explained about 0.05% of the observed variation for ΔRR. The growth hormone receptor (GHR) gene resides in this region and is associated with the HS response. The other important candidate genes associated with ΔRR (PAIP1, NNT, and TEAD4), ΔTR (LIMS2, TTR, and TEAD4), and ΔTS (ERBB4, FKBP1B, NFATC2, and ATP9A) have reported roles in the cellular stress response. The SNP explaining the largest proportion of variance and located within and in the vicinity of genes were related to apoptosis or cellular stress and are potential candidates that underlie the physiological response to HS in pigs.

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Section: Resultsmentioning

confidence: 99%

Characterization of the acute heat stress response in gilts: III. Genome-wide association studies of thermotolerance traits in pigs

Kim

Seibert

Edea

et al. 2018

Journal of Animal Science

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“…To the best of our knowledge, the GHR has been reported so far to be associated with milk production but not bovine stature in cattle (Blott et al, 2003; Viitala et al, 2006; Bouwman et al, 2018). However, variants in this genes have been demonstrated to affect body size in other mammalian species, such as in the case of the Laron syndrome in human (Cui et al, 2015), in miniature pig (Tian et al, 2014) and in dogs breeds (Rimbault et al, 2013; Plassais et al, 2017). Muturu cattle are particularly known for their dwarf stature, which may explain the selection signals observed in our study at the GHR and GHRHR genes.…”

Section: Discussionmentioning

confidence: 99%

Genome Sequence Analysis Reveals Selection Signatures in Endangered Trypanotolerant West African Muturu Cattle

et al. 2019

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Like most West African Bos taurus , the shorthorn Muturu is under threat of replacement or crossbreeding with zebu. Their populations are now reduced to a few hundred breeding individuals and they are considered endangered. So far, the genetic variation and genetic basis of the trypanotolerant Muturu environmental adaptation have not been assessed. Here, we present genome-wide candidate positive selection signatures in Muturu following within-population iHS and between population Rsb signatures of selection analysis. We compared the results in Muturu with the ones obtained in N’Dama, a West African longhorn trypanotolerant taurine, and in two European taurine (Holstein and Jersey). The results reveal candidate signatures of selection regions in Muturu including genes linked to the innate (e.g., TRIM10, TRIM15, TRIM40 , and TRIM26 ) and the adaptive (e.g., JSP.1, BOLA-DQA2, BOLA-DQA5, BOLA-DRB3 , and BLA-DQB ) immune responses. The most significant regions are identified on BTA 23 at the bovine major histocompatibility complex (MHC) ( iHS analysis) and on BTA 12 at genes including a heat tolerance gene ( INTS6 ) ( Rsb analysis). Other candidate selected regions include genes related to growth traits/stature (e.g., GHR and GHRHR ), coat color (e.g., MITF and KIT ), feed efficiency (e.g., ZRANB3 and MAP3K5 ) and reproduction (e.g., RFX2, SRY, LAP3 , and GPX5 ). Genes under common signatures of selection regions with N’Dama, including for adaptive immunity and heat tolerance, suggest shared mechanisms of adaptation to environmental challenges for these two West African taurine cattle. Interestingly, out of the 242,910 SNPs identified within the candidate selected regions in Muturu, 917 are missense SNPs (0.4%), with an unequal distribution across 273 genes. Fifteen genes including RBBP8, NID1, TEX15, LAMA3, TRIM40 , and OR12D3 comprise 220 missense variants, each between 11 and 32. Our results, while providing insights into the candidate genes under selection in Muturu, are paving the way to the identification of genes and their polymorphisms linked to the unique tropical adaptive traits of the West Africa taurine, including trypanotolerance.

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“…Genetic variation (mainly SNPs) of GH/IGF and its association with gene activity and phenotypic variation have been reported extensively [34][35][36]. However, the contribution of retrotransposons to the structural variations of GH/IGF axis genes has not been explored yet.…”

Section: Introductionmentioning

confidence: 99%

SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor

Zheng

Muráni

D’Alessandro

et al. 2021

Animals

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The genetic diversity of the GH/IGF axis genes and their association with the variation of gene expression and phenotypic traits, principally represented by SNPs, have been extensively reported. Nevertheless, the impact of retrotransposon insertion polymorphisms (RIPs) on the GH/IGF axis gene activity has not been reported. In the present study, bioinformatic prediction and PCR verification were performed to screen RIPs in four GH/IGF axis genes (GH, GHR, IGF1 and IGF1R). In total, five RIPs, including one SINE RIP in intron 3 of IGF1, one L1 RIP in intron 7 of GHR, and three SINE RIPs in intron 1, intron 5 and intron 9 of GHR, were confirmed by PCR, displaying polymorphisms in diverse breeds. Dual luciferase reporter assay revealed that the SINE insertion in intron 1 of GHR significantly repressed the GHR promoter activity in PK15, Hela, C2C12 and 3T3-L1 cells. Furthermore, qPCR results confirmed that this SINE insertion was associated with a decreased expression of GHR in the leg muscle and longissimus dorsi, indicating that it may act as a repressor involved in the regulation of GHR expression. In summary, our data revealed that RIPs contribute to the genetic variation of GH/IGF axis genes, whereby one SINE RIP in the intron 1 of GHR may decrease the expression of GHR by acting as a repressor.

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Single-nucleotide polymorphism analysis of GH, GHR, and IGF-1 genes in minipigs

Cited by 10 publications

References 22 publications

Characterization of the acute heat stress response in gilts: III. Genome-wide association studies of thermotolerance traits in pigs

Characterization of the acute heat stress response in gilts: III. Genome-wide association studies of thermotolerance traits in pigs

Genome Sequence Analysis Reveals Selection Signatures in Endangered Trypanotolerant West African Muturu Cattle

SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor

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