Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats

Zhao, Haiyu; Wu, Xianfeng; Cai, Hanfang; Pan, Chuanying; Lei, Chuzhao; Chen, Hong; Lan, Xianyong

doi:10.1016/j.gene.2013.09.062

Cited by 66 publications

(39 citation statements)

References 29 publications

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“…Several SNPs in introns and exons within the PITX2 gene have been reported in goats, but to the best of our knowledge indel polymorphisms of this gene have not been reported until now. According to previous studies, the PITX2 gene has a significant effect on milk production traits in dairy goats (Zhao et al, 2013). In this study a novel indel within the promoter of the PITX2 gene in goats was explored.…”

Section: Discussionmentioning

confidence: 99%

The novel 22 bp insertion mutation in a promoter region of the PITX2 gene is associated with litter size and growth traits in goats

et al. 2018

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Abstract. The paired-like homeodomain 2 (PITX2) gene plays a critical role in regulating development, reproduction, and growth traits in ruminants. Hence, the objective of this study was to explore the polymorphisms of this gene and to evaluate their associations with quantitative traits. Herein, a novel insertion in the promoter region of the PITX2 gene was reported in Shaanbei white cashmere (SBWC) goats (n = 1012). The genotype distributions between mothers of single-kid and multi-kid groups within SBWC goats were significantly different (P < 0.01), implying that this indel mutation might affect the litter size. Furthermore, association analysis found that this indel mutation was significantly associated with litter size (P = 0.001). Individuals with genotype DD had a significantly smaller litter size than those with other genotypes (P < 0.01). Besides, this indel was significantly associated with the body length (P = 0.042) and the chest width (P = 0.031). Especially, the individuals with genotype DD had a significantly lower body length than those with genotype II (P < 0.05), which was consistent with the trend in litter size. These findings suggested that the new 22 bp indel mutation within the PITX2 gene is significantly associated with litter size and growth traits; this can be utilized as a functional molecular marker in goat breeding.

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Section: Discussionmentioning

confidence: 99%

The novel 22 bp insertion mutation in a promoter region of the PITX2 gene is associated with litter size and growth traits in goats

et al. 2018

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“…There are studies that have the same results as this study, which are that coding SNPs are associated with economically important production traits. For example, the synonymous mutation AC_000163:g.18161C>G SNP in the goat PITX2 gene is associated with milk density in the Guanzhong dairy goat (Zhao et al, 2013). The synonymous mutation might produce codon usage bias, thereby influencing the production traits (Lan et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

“…The combined genotypes containing the SNP3 locus were significantly associated with chest width in the Qinchuan breed and five other traits in the Jinnan breed. Studies showed that the intronic mutation G3072A in sheep IGF2 was associated with skeletal muscle development (Cockett et al, 1994) and the intronic mutation AC_000163:g.18353TNC in the goat PITX2 gene was associated with more than 10 milk production traits (Zhao et al, 2013). The intronic mutation might affect the binding of the DNA sequence and DNA binding factors, such as transcrip-tion factors and splicing factors.…”

Section: Discussionmentioning

confidence: 99%

“…The intronic mutation might affect the binding of the DNA sequence and DNA binding factors, such as transcrip-tion factors and splicing factors. Moreover, intronic mutation might influence the transcriptional efficiency as well as stability of mRNA (Zhao et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…The genes mentioned above, CLPG, STAT3, STAT5A, POU1F1 and PROP1, all have SNPs associated with growth traits, and some SNP genotypes were found to be significantly associated with mRNA expression levels (Jia et al, 2015;Lan et al, 2007Lan et al, , 2009Wu et al, 2014;Zhao et al, 2013). In humans, functional SNPs that were associated with disease were found in the ATBF1 gene (Liu et al, 2014;Tsai et al, 2015).…”

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Evaluation of novel SNPs and haplotypes within the ATBF1 gene and their effects on economically important production traits in cattle

Zhang

et al. 2017

Arch. Anim. Breed.

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Abstract. AT motif binding factor 1 (ATBF1) gene can promote the expression level of the growth hormone 1 (GH1) gene by binding to the enhancers of the POU1F1 and PROP1 genes; thus, it affects the growth and development of livestock. Considering that the ATBF1 gene also has a close relationship with the Janus kinasesignal transductor and activator of transcription (JAK-STAT) pathway, the objective of this work was to identify novel single-nucleotide polymorphism (SNP) variations and their association with growth traits in native Chinese cattle breeds. Five novel SNPs within the ATBF1 gene were found in 644 Qinchuan and Jinnan cattle for first time using 25 pairs of screening and genotyping primers. The five novel SNPs were named as AC_000175:g.140344C>G (SNP1), g.146573T>C (SNP2), g.205468C>T (SNP3), g.205575A>G (SNP4) and g.297690C

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Retracted: MicroRNA‐590‐5p functions as a tumor suppressor in breast cancer conferring inhibitory effects on cell migration, invasion, and epithelial–mesenchymal transition by downregulating the Wnt–β‐catenin signaling pathway

Gao

Yuan

et al. 2018

Journal Cellular Physiology

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Breast cancer remains one of the foremost primary causes of female morbidity and mortality worldwide. During the current study, the effect of miR-590-5p and paired-like homeodomain transcription factor 2 (PITX2) on proliferation, invasion, migration, and epithelial-mesenchymal transition (EMT) of human breast cancer via the Wnt-β-catenin signaling pathway was investigated. Breast cancer-related genes and related signaling pathways were obtained from KEGG database. The PITX2 regulatory microRNA was predicted. To define the contributory role by which miR-590-5p influences the progression of breast cancer, the interaction between miR-590-5p and PITX2 was explored; the proliferation, invasion, and migration abilities as well as the tumor growth and metastasis in nude mice were detected following the overexpression or silencing of miR-590-5p. PITX2 was determined to share a correlation with breast cancer and miR-590-5p was selected for further analysis. PITX2, Wnt-1, β-catenin, N-cadherin, and vimentin all displayed higher levels, while miR-590-5p and E-cadherin expression were lower among breast cancer tissues than in the adjacent normal tissue. After overexpression of miR-590-5p or si-PITX2, the expression of E-cadherin was markedly increased, decreases in the expression of Wnt-1, β-catenin, N-cadherin, and vimentin, as well as inhibited cell proliferation, invasion, migration, metastasis, and EMT were observed. This study provides evidence suggesting that the transfection of overexpressed miR-590-5p can act to alleviate the effects of breast cancer demonstrating an ability to inhibit the processes of cell proliferation, migration, and invasion as well as EMT by suppressing the expression of PITX2 and activation of the Wnt-β-catenin pathway.

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Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats

Cited by 66 publications

References 29 publications

The novel 22 bp insertion mutation in a promoter region of the <i>PITX2</i> gene is associated with litter size and growth traits in goats

The novel 22 bp insertion mutation in a promoter region of the <i>PITX2</i> gene is associated with litter size and growth traits in goats

Evaluation of novel SNPs and haplotypes within the <i>ATBF1</i> gene and their effects on economically important production traits in cattle

Retracted: MicroRNA‐590‐5p functions as a tumor suppressor in breast cancer conferring inhibitory effects on cell migration, invasion, and epithelial–mesenchymal transition by downregulating the Wnt–β‐catenin signaling pathway

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Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats

Cited by 66 publications

References 29 publications

The novel 22 bp insertion mutation in a promoter region of the &lt;i&gt;PITX2&lt;/i&gt; gene is associated with litter size and growth traits in goats

The novel 22 bp insertion mutation in a promoter region of the &lt;i&gt;PITX2&lt;/i&gt; gene is associated with litter size and growth traits in goats

Evaluation of novel SNPs and haplotypes within the &lt;i&gt;ATBF1&lt;/i&gt; gene and their effects on economically important production traits in cattle

Retracted: MicroRNA‐590‐5p functions as a tumor suppressor in breast cancer conferring inhibitory effects on cell migration, invasion, and epithelial–mesenchymal transition by downregulating the Wnt–β‐catenin signaling pathway

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The novel 22 bp insertion mutation in a promoter region of the <i>PITX2</i> gene is associated with litter size and growth traits in goats

The novel 22 bp insertion mutation in a promoter region of the <i>PITX2</i> gene is associated with litter size and growth traits in goats

Evaluation of novel SNPs and haplotypes within the <i>ATBF1</i> gene and their effects on economically important production traits in cattle