Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is well established that the human placenta produces a wide range of hormones similar to those secreted by the pituitary and hypothalamus. However, the physiological role and regulation of placental hormone synthesis and release are still largely unknown. GH (GH-N) is expressed in the pituitary, where it requires the tissue-specific transcription factor Pit-1. Chorionic somatomammotropin A (CS-A) and CS-B as well as the placental GH variant (GH-V), which also belong to the GH gene family and are located in the same chromosomal cluster, are expressed in the placental syncytiotrophoblast. The presence of Pit-1-binding sites in the CS-A and GH-V promoter regions predicts that Pit-1 may be expressed in the placenta. However, this has not yet been demonstrated. To examine possible similarities in the regulation of these genes in the pituitary and placenta, we studied the expression of pit-1 messenger ribonucleic acid (mRNA) in the human placenta, transformed human placental cells, and the JEG-3 choriocarcinoma cell line. Polymerase chain reaction (PCR) products of the expected size were amplified from first and third trimester placentas, transformed placental cells, and JEG-3 complementary DNA by reverse transcription-PCR. The pit-1-specific sequence was confirmed by restriction endonuclease digestion, Southern hybridization, and DNA sequencing. Human pituitary tissue was used as a positive control; no PCR product was obtained from hippocampus (negative control). In situ hybridization of placental tissue sections revealed the presence of pit-1 mRNA in first and third trimester syncytiotrophoblast. Pit-1 protein was localized by immunohistochemistry with the same tissue distribution and a nuclear localization pattern. These data demonstrate expression of pit-1 mRNA and Pit-1 protein in the human placenta, thus questioning its role as a pituitary-specific regulator of GH-N gene transcription. The expression of Pit-1 in the placenta, together with its previously demonstrated capability to bind to and activate the CS-A and the GH-V promoters, suggests that it may play a role in the regulation of hormones belonging to the GH gene family in both pituitary and placenta.
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PMID:Expression of pit-1 messenger ribonucleic acid and protein in the human placenta. 760 49

PCR-SSCP and DNA sequencing methods were applied to reveal three novel single nucleotide polymorphisms (SNPs) in exon 2 of the POU1F1 gene in 963 Chinese cattle belonging to eight breeds. Among them, a silent SNP (NM_174579:c.545G > A) detected by TaqI endonuclease is described. Frequencies of the POU1F1-G allele varied from 0.685 to 1.000. The association of TaqI polymorphism with growth traits was analyzed in 251 Nanyang cattle. No significant associations of the TaqI polymorphism with body weight and average daily gain for different growth periods (6, 12, 18, and 24 months old) were observed (P > 0.05), as well as for body sizes (P > 0.05).
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PMID:A TaqI PCR-RFLP detecting a novel SNP in exon 2 of the bovine POU1F1 gene. 1843 43

The pituitary-specific positive transcription factor 1 (POU1F1) gene has been the subject of many recent studies because of its important roles in growth and development of mammals. In this study, we investigated the single nucleotide polymorphisms (SNPs) at the third exon of POU1F1 gene and its association with growth and biometric traits and blood metabolites in two Iranian sheep breeds, Zel and Lori-Bakhtiari. Blood samples from 90 Lori-Bakhtiari and 90 Zel sheep were collected to extract DNA and the 295-bp fragment of the POU1F1 gene was amplified and the restriction fragment length polymorphism (RFLP) technique was adopted for genotyping. A SNP was identified in both Lori-Bakhtiari and Zel sheep breeds, which represents a non-synonymous single base mutation at restriction site for endonuclease AciI. The results revealed differential frequencies of alleles between the two studied breeds, where A allele was more frequent in Lori-Bakhtiari breed, while G allele was more frequent in Zel breed. When POU1F1 genotypes were tested, the animals with AA genotype had a higher weaning weight than those with GG genotype (p < 0.05), however there were not significant association between genotypes and birth weight, biometric traits (body length, body height, heart girth, thigh girth and abdominal girth) and blood metabolites (triglyceride and cholesterol) of the studied breeds (p > 0.05). These findings imply that the POU1F1 polymorphism may affect weaning weight, thus can be used as a molecular marker for this production trait.
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PMID:Association of pituitary specific transcription factor-1 (POU1F1) gene polymorphism with growth and biometric traits and blood metabolites in Iranian Zel and Lori-Bakhtiari sheep. 2496 43

The purpose of the study was to detect the AluI and DdeI polymorphisms within POU1F1 gene exon 6 and 3'UTR region in Turkish sheep breeds, and their association with milk productive traits. Jugular blood samples were collected from 50 Sakiz, 50 White Karaman, and 50 Awassi sheep using EDTA as an anticoagulant. PCR-RFLP and sequencing analysis were performed to investigate possible polymorphisms in the exon 6 and 3' flanking region of the sheep POU1F1 gene. The PCR products were digested with restriction endonuclease AluI and DdeI, and biallelic polymorphism was found with restriction endonuclease AluI and two genotypes (TT (296 bp and 173 bp) and CC (235 bp, 173 bp and 61 bp)) were detected. White Karaman and Awassi breeds did not show polymorphisms for AluI restriction sites. No polymorphism at the DdeI cleavage sites was detected in the three sheep breeds. Significant statistical results were found in milk yield ((***)P0.001), fat ((***)P0.001) and lactose ((*)P0.05) values with TT and CC genotypes, however no significant association of TT and CC genotypes with protein values was detected (P>0.05) and individuals with genotype TT had a superior milk yield in Sakiz sheep breeds. As sequence results, seven variation points were determined for exon 6 (g.185T>C) and 3'UTR (g.220G>A, g.229C>T, g.248C>T, g.250A>T, g.255T>C, g.258C>T) of the sheep POU1F1 gene. We have reported here for the first time single nucleotide polymorphisms of the POU1F1 gene for both exon 6 and 3'UTR and its effects on milk traits in Turkish sheep breeds were evaluated.
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PMID:Polymorphism of sheep POU1F1 gene exon 6 and 3'UTR region and their association with milk production traits. 2717 26

POU (Pit-Oct-Unc) class 1 homeobox 1 (POU1F1, or Pit-1) is a transcription factor that directly regulates pituitary hormone-related genes, as well as affects the reproduction and growth in mammals. Thus, POU1F1 gene was investigated as a candidate gene for litter size and growth performance in goats. In the current study, using direct DNA sequencing, c.682G > T, c.723T > G and c.837T > C loci were genotyped in Shaanbei white cashmere (SBWC) goats (n = 609), but c.876 + 110T > C was monomorphic. Besides, the c.682G > T locus was first identified by HinfI (Haemophilus influenzae Rf) restriction endonuclease. Association analysis results showed that the c.682G > T, c.837T > C loci and diplotypes were significantly associated with goat litter size (p < 0.05). The positive genotypes were GT and TT for the two SNPs, respectively, and the optimal diplotype was H3H7 (GTTT-TTTT). On the other hand, the c.682G > T, c.723T > G and c.837T > C strongly affected growth traits and body measurement indexes in SBWC goats (p < 0.05). The positive genotypes or allele of these SNPs were GT, G and TT, respectively. Additionally, the goats with H3H7 diplotype also had a greater growth status than others (p < 0.05). Here, individuals with same genotype had both a better litter size and growth traits, showing a positive correlation between these economic traits. Meanwhile, the positive genotypes of four SNPs were combined to obtain the optimal diplotype, which was also H3H7. These SNPs, especially the diplotype, could be used for the genomic selection of excellent individuals with a greater litter size and better growth status in goat breeding.
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PMID:Relationship between SNPs of POU1F1 Gene and Litter Size and Growth Traits in Shaanbei White Cashmere Goats. 3093 10