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Madura cattle is a one of the native cattle that are genetically tolerant of tropical climates. Madura cattle are one of the beef cattle breeds in Indonesia. Madura cattle can be a superior breed, but improving growth trait in Madura cattle needs to be conducted. The early step that was needed was for detecting the genes which were involved in growth traits. The purpose of this research was for detecting GHR gene polymorphisms and its association with body weight of Madura cattle population in Indonesian Beef Cattle Research Station. This study used 110 DNA samples of Madura cattle that was collected from the experimental barn at Indonesian Beef Cattle Research Station. DNA samples were extracted by DNA extraction kit. Genotype of GHR gene was detected by PCR-RFLP method using AluI restriction enzymes. In this study, association genotype and body weight was analysed by univariate GLM method. The birth weight, weaning weight, yearling weight and 18 months weight of Madura cattle were 16.8±0.3 kg; 82.4±2.3 kg; 124.6±3.7 kg and 166.7±5.0 kg, respectively. The GHR genes of Madura cattle had 3 genotypes AA, AG and GG and genotype frequencies of GHR gene were 0.273 (AA), 0.373 (AG), 0.355 (GG), respectively. Whereas the allele frequencies of A was 0.459 and the allele frequencies of G was 0.541. Based on Chi-square (X2) analysis showed that the population sample was not disequilibrium. The result of association analysis was significant (P <0.05) on weaning weight, yearling weight and 18 month weight. It was concluded that the GHR gene has potential as a genetic marker for growth traits and can be used as MAS in Madura cattle in Indonesian Beef Cattle Research Station.

Animal growth and development are regulated by the growth hormone receptor (GHR). To elucidate the transcriptional regulation mechanism of the yak GHR gene, we cloned its proximal promoter region and performed bioinformatic analyses. Deletion constructs were generated to produce fragments of the proximal promoter, and the fragment exhibiting the highest activity was identified using a dual-luciferase reporter assay system. Moreover, the functionality of the transcription factor binding sites was confirmed via site-directed mutagenesis and electrophoretic mobility shift assay (EMSA). Bioinformatics analysis revealed two transcriptional initiation sites were located in the upstream regulation region at positions − 277/ − 327 and − 1734/ − 1784 bp, and CpG islands were located at − 552/ − 654 and − 82/ − 289 bp upstream. We identified the − 160 to + 27 bp region as the minimal core promoter of the yak GHR gene. The transcription factor KLF5, which is involved in muscle growth and development, was predicted to bind the proximal minimum core promoter region of the GHR gene. Using site-directed mutagenesis and EMSA, we demonstrated that KLF5 is a critical transcription regulator of the GHR gene. Our findings establish a theoretical basis for investigating the regulatory mechanisms of GHR gene expression.

Genome-wide association studies (GWAS) based on high throughput SNP genotyping technologies open a broad avenue for exploring genes associated with milk production traits in dairy cattle. Motivated by pinpointing novel quantitative trait nucleotide (QTN) across Bos Taurus genome, the present study is to perform GWAS to identify genes affecting milk production traits using current state-of-the-art SNP genotyping technology, i.e., the Illumina BovineSNP50 BeadChip. In the analyses, the five most commonly evaluated milk production traits are involved, including milk yield (MY), milk fat yield (FY), milk protein yield (PY), milk fat percentage (FP) and milk protein percentage (PP). Estimated breeding values (EBVs) of 2,093 daughters from 14 paternal half-sib families are considered as phenotypes within the framework of a daughter design. Association tests between each trait and the 54K SNPs are achieved via two different analysis approaches, a paternal transmission disequilibrium test (TDT)-based approach (L1-TDT) and a mixed model based regression analysis (MMRA). In total, 105 SNPs were detected to be significantly associated genome-wise with one or multiple milk production traits. Of the 105 SNPs, 38 were commonly detected by both methods, while four and 63 were solely detected by L1-TDT and MMRA, respectively. The majority (86 out of 105) of the significant SNPs is located within the reported QTL regions and some are within or close to the reported candidate genes. In particular, two SNPs, ARS-BFGL-NGS-4939 and BFGL-NGS-118998, are located close to the DGAT1 gene (160bp apart) and within the GHR gene, respectively. Our findings herein not only provide confirmatory evidences for previously findings, but also explore a suite of novel SNPs associated with milk production traits, and thus form a solid basis for eventually unraveling the causal mutations for milk production traits in dairy cattle.

Abstract Context GH is a strong regulator of metabolism. In obesity, both GH secretion and adipose tissue GHR gene expression are decreased. More detailed information on the regulation of GHR, STAT3/5, and downstream-regulated genes in human adipose tissue during diet-induced weight loss and weight gain is lacking. Objective The aim of the present study was to investigate the gene expression patterns of GHR and the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway (JAK2, STAT3, STAT5A, and STAT5B) in human subcutaneous adipose tissue in relation to energy restriction and overfeeding. Design, Patients, and Interventions Tissue distribution was analyzed in a data set generated by RNA sequencing containing information on global expression in human tissues. Subcutaneous adipose tissue or adipocyte gene expression (measured by DNA microarrays) was investigated in the following settings: (i) individuals with obesity vs individuals with normal weight; (ii) energy restriction; and (iii) overfeeding. Results GHR expression was decreased in subjects with obesity compared with subjects with normal weight (P < 0.001). It was increased in response to energy restriction and decreased in response to overfeeding (P = 0.015 and P = 0.030, respectively). STAT3 expression was increased in subjects with obesity (P < 0.001). It was decreased during energy restriction and increased during overfeeding (P = 0.004 and P = 0.006, respectively). STAT3-regulated genes showed an overall view of overexpression in obesity. Conclusions The results of the present study have shown that GHR, STAT3, and STAT3-regulated genes are dynamically, and reciprocally, regulated at the tissue level in response to energy restriction and overfeeding, suggesting that GH signaling is perturbed in obesity. GHR and STAT3/5 gene expression was studied in human adipose tissue in relation to obesity and weight loss and gain. Expression was dynamically regulated, suggesting perturbed GH signaling in obesity.

Pikeperch (Sander lucioperca L.) is a freshwater fish species of major economic importance in several producer countries. Insufficient information about growth-related genes in pikeperch prevents their breeding through marker-assisted selection (MAS). This study aimed to clone growth-related genes (IGF-I, IGF-II, and GHR) of pikeperch to detect single-nucleotide polymorphisms (SNPs) associated with growth, laying the foundation for MAS in pikeperch. Full-length cDNA sequences of IGF-I, IGF-II, and GHR were isolated using RACE PCR; the cDNA sequences obtained were 883, 1210, and 1995 base pairs, respectively, encoding proteins of 183, 215, and 664 amino acids. The three genes were expressed in all tissues tested, though at especially high levels in the liver. Four SNPs, comprising two in intron 1 of IGF-I, one in intron 3 of IGF-II, and one in the coding region of GHR, were found in a cultured population of pikeperch. Three of the SNPs were successfully genotyped by Kompetitive allele–specific PCR in a randomly mixed group of 298 individuals. The SNP in IGF-II was significantly associated with body weight (SL2-IGF-II-c.544+1111_544+1112delAAinsTC; allele frequency, AA:TC = 52.8:47.2; AA-AA (26), AA-TC (54), and TC-TC (20) genotypes). The fish with genotype TC-TC of SL2-IGF-II-c.544+1111_544+1112delAAinsTC had a significantly greater body weight than fish of genotype AA-AA (P < 0.05). This discovery may provide a useful marker for marker-assisted selection of pikeperch in the future.

Four hundred and eighty 1-day-old Japanese quail chicks from white and brown strains, 240 birds from each strain, were divided into 4 treatment groups with 6 replicates each (10 birds/replicate). Both strains of quail were fed diets containing 0%, 3%, 6%, and 9% pomegranate peel (PP) powder for a period of 42 days. Results revealed that the final body weight (BW), total feed intake (TFI), body weight gain (BWG), gizzard percentage, and eviscerated carcass weight of white growing quails were significantly (P < 0.05) higher than the brown strain. Quail group fed with 6% PP powder had the highest (P < 0.001) average final BW and BWG (P < 0.001). The dietary PP powder at different levels significantly (P = 0.032) decreased TFI, but had no significant effect on carcass traits except for the liver percentage. Quails fed diet 3% and 9% PP powder had significant (P < 0.001) increased count of immune cells, and improved antioxidant potency. White quails fed diet 3% and 6% PP powder had greater expression of hepatic GHR gene. The expression of hepatic IGF-1 gene was significantly (P < 0.05) higher for brown quails fed diet 6% and 9% PP powder. White quails recorded the highest value of total return (TR). Quails fed diet 6% and 9% PP powder significantly (P < 0.001) recorded higher net return (NR) values. In conclusion, dietary inclusion of PP powder at levels up to 9% for Japanese quail strains improved the growth performance, increased antioxidant properties, enhanced hepatic gene expression, and did not show any adverse influence on carcass quality and blood indices of Japanese quail. Moreover, it increased the NR.

The growth hormone receptor (GHR) is a member of the cytokine/hematopoietic factor receptor superfamily, which plays an important role in the growth and development, immunity, and metabolism of animals. This study identified a 246 bp deletion variant in the intronic region of the GHR gene, and three genotypes, including type II, type ID, and type DD, were observed. Genotype analysis of structural variation (SV) was performed on 585 individuals from 14 yak breeds, and it was found that 246 bp deletion was present in each breed. The II genotype was dominant in all yak breeds except for SB yak. The association analysis of gene polymorphisms and growth traits in the ASD yak population showed that the 246 bp SV was significantly associated with body length at 6 months (p < 0.05). GHR messenger RNA (mRNA) was expressed in all the tested tissues, with significantly higher levels in the liver, muscle, and fat than in other organs. The results of transcription activity showed that the luciferase activity of the pGL4.10-DD vector was significantly higher than that of the pGL4.10-II vector (p < 0.05). Additionally, the transcription-factor binding prediction results showed that the SV in the runt-related transcription factor 1 (Runx1) transcription-factor binding site may affect the transcriptional activity of the GHR gene, regulating yak growth and development. This study showed that the novel SV of the GHR gene could be used as a candidate molecular marker for the selection of the early growth trait in ASD yak.

— A study of the intrabreed variability of four single nucleotide polymorphisms in the RORC , GHR , Lep , and LepR genes associated with meat productivity was carried out for the first time in five samples of the Kostroma breed of dairy and beef cattle. A comparison was also made with known data for two related beef breeds (Aberdeen Angus and Russian Polled). The same alleles of loci of the studied genes prevailed in frequency both in all samples of the Kostroma breed and in the two additional breeds involved for the joint analysis. The distribution of genotype frequencies in all Kostroma breed samples did not deviate from the Hardy–Weinberg distribution. According to a complex of studied markers, a differentiation of the Kostroma breed samples from each other and from the Aberdeen Angus and Russian Polled breeds was detected by a multidimensional scaling method based on pairwise F ST values and using a G test. The analysis of the Kostroma breed samples with two other breeds by Bayesian clustering method identified four latent genetic structures. All types of clusters were found in the Kostroma breed, while only a few were found in the Aberdeen Angus and Russian Polled breeds. A different contribution of the studied loci in intra- and interbreed differentiation was established. Thus, the Lep and LepR genes showed themselves at the intrabreed level, and the RORC gene, at the interbreed level. At the same time, the GHR gene locus was characterized by the greatest variability. In general, according to the loci of the studied genes, the intrabreed variability of the Kostroma breed was comparable to the interbreed variability. The results are discussed with regard to the involvement of these loci in population processes in the studied cattle breeds and justify the need for a more detailed study of intrabreed variability by SNP markers associated with breeding valuable traits for the whole spectrum of breeds, regardless of their productive orientation: beef or dairy.

The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS). To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature. Our results showed significantly lower IGF-I levels in children with short stature (-0.57±0.18 SDS) compared to control children (0.056±0.19 SDS; p<0.0001) and to subjects with tall stature (0.594±0.17; p=0.00067). Furthermore, we found significantly higher GHR gene expression levels in tall children (321.84±90.04 agGHR/5×105agGAPDH) compared with other groups of subjects (short children: 30.13±7.5 agGHR/5×105agGAPDH, p<0.0001; controls: 86.81ag±19.5 GHR/5×105agGAPDH, p=0.035). The GHR gene expression level in short children was significantly lower compared with control subjects (p=0.0068). Significantly higher GHR gene expression levels in tall subjects suggests a sensitization of the GHR-IGF system leading to overgrowth in CTS.

ABSTRACT The identification of genetic polymorphisms in genes enable us to estimate biological similarities and obtain a better perspective of quantitative traits that play key roles in development and regulating growth. The present study was conducted to characterize genetic variability in the growth hormone (GH) and growth hormone receptor (GHR) of Camelus dromedarius. GH is secreted and synthesized from somatotroph cells of the anterior pituitary lobe and plays significant role in growth, development, metabolism, lactation, and reproduction. Growth hormone interact with GHRs and influence on metabolism and growth. Changes in GHR concentration affect signalling pathways, binding capacity and alters activity of GH. Therefore, the GH and GHR genes are considered important candidate genes. DNA samples of Marecha camel were collected from the Camel Breeding and Research Station at Rakhmani Bhakar, Pakistan. Two significant polymorphic sites were identified in GH gene and three in GHR gene. Out of these, T1720A polymorphism in GH and A211927G polymorphism in GHR genes changed the amino acid from leucine to histidine and methionine to valine, respectively. These polymorphic results suggest that Marecha camel, a major breed in Pakistan, has genetic variability in the GH and GHR genes. These results suggest that Marecha camel has genetic variability in growth-related genes and identified polymorphisms may be helpful for association studies and future selection programs.