Growth Hormone Gene Polymorphism Research Articles

Growth hormone gene polymorphism in native poultry in khuzestan province of Iran

Growth hormone gene polymorphism in native poultry in khuzestan province of Iran

Growth hormone gene polymorphisms in tench, Tinca tinca L.

Studies of the growth hormone (GH) gene have both fundamental and practical significance, but no data on intra-specific polymorphisms of the tench, Tinca tinca, GH gene has been available. In the present study, the complete GH gene was cloned from 17 tench individuals chosen from 10 European and two Asian populations, cultured as well as wild and sequenced from 28 recombinant plasmids (at least one per individual). The tench GH gene was found to be 1758–1763 bp in length. Altogether 14 polymorphic sites were observed, 12 located in introns (SNPs and very short indels) and two in exons (SNPs only). In non-coding regions, the highest polymorphism was found in intron 2 (five SNPs and two indels). Intron 4 was short (137 bp) and monomorphic. In coding regions, one polymorphic site was observed in exon 3 and one in exon 5. The detected SNPs in exons were synonymous, having no effect on the amino acid composition of the GH protein. Thirteen GH gene haplotypes were observed. The tench GH gene haplotypes clustered into two major classes with a mean genetic distance of 0.0037 ± 0.0014 and coefficient of GH gene differentiation of 0.67 ± 0.129 (mean ± S.E.). The two classes corresponded, based on phylogroup-specific PCR-RFLP, with previously determined two phylogroups, western and eastern. Although the described tench GH gene haplotypes might not include all the existing ones, all common polymorphic sites were identified. Polymorphisms in the tench GH gene, a representative of the five-exon type, are not as extensive as in fishes with the six-exon GH gene. However, GH gene polymorphisms in tench can still serve as suitable markers for population studies and conservation purposes. Investigation of growth performance differences in fish of different GH gene classes and/or haplotypes may be valuable.

Effects of bovine fatty acid synthase, stearoyl-coenzyme A desaturase, sterol regulatory element-binding protein 1, and growth hormone gene polymorphisms on fatty acid composition and carcass traits in Japanese Black cattle1

The quality of fat is an important factor in defining the quality of meat. Fat quality is determined by the composition of fatty acids. Among lipid metabolism-related genes, including fatty acid synthesis genes, several genetic variations have been reported in the bovine fatty acid synthase (FASN), stearoyl-CoA desaturase (SCD), sterol regulatory element-binding protein 1 (SREBP1), and GH genes. In the present study, we evaluated the single and epistatic effects of 5 genetic variations (4 SNP and 1 insertion/deletion) in 4 genes (FASN, SCD, SREBP1, and GH) on the fatty acid composition of the longissimus thoracis muscle and carcass and meat quality traits in 480 commercial Japanese Black cattle. Significant single effects of FASN, SCD, and GH(L127V) polymorphisms on the fatty acid composition of the longissimus thoracis muscle were detected. The A293V polymorphism of SCD had the largest effect on myristic acid (C14:0, P < 0.001), myristoleic acid (C14:1, P < 0.001), stearic acid (C18:0, P < 0.001), oleic acid (C18:1, P < 0.001), and MUFA (P < 0.001). Polymorphisms in the FASN, SCD, and SREBP1 genes showed no effect on any meat yield trait. There were no significant epistatic effects on fatty acid composition among pairs of the 3 genes (FASN, SCD, and SREBP1) involved in fatty acid synthesis. No epistatic interactions (P > 0.1) were detected between FASN and SCD for any carcass trait. When the genotypes of 3 markers (FASN, SCD, and GH(L127V)) were substituted from the lesser effect allele to the greater effect allele, the proportion of C18:1 increased by 4.46%. More than 20% of the genetic variance in the C18:1 level could be accounted for by these 3 genetic markers. The present results revealed that polymorphisms in 2 fatty acid synthesis genes (FASN and SCD) independently influenced fatty acid composition in the longissimus thoracis muscle. These results suggest that SNP in the FASN and SCD genes are useful markers for the improvement of fatty acid composition in commercial Japanese Black cattle.

Polymorphisms in growth hormone gene and their associations with calf weight in Japanese Black cattle

The objectives of this study were to detect effective genetic polymorphisms of bovine growth hormone (bGH) gene associated with calf weight in Japanese Black cattle. Fifty-eight sires and 47 breeding cows were used to detect the polymorphisms in exons by single-strand conformation polymorphism (SSCP). Four homozygous and six heterozygous SSCP genotypes were identified in exon 5. Although each single nucleotide polymorphism (SNP) had been reported, these genotypes were caused by three SNPs at the nucleotide positions 2141, 2277 and 2291. Four haplotypes C-C-A, G-C-A, C-C-C and G-T-A were newly identified. It was suggested that other haplotypes not detected in this study may not exist, considering the allele frequencies reported in Bos taurus and Bos indicus, and the migrating process of native Japanese cattle. Thereafter, we examined associations between the detected polymorphic sites in exon 5 by PCR - restriction fragment length polymorphism and calf weight using 53 breeding dams and 135 calves. The birth weights of calves with haplotype G-C-A are significantly lighter and calves' weights produced by cows with such haplotype are also lighter at 30 days old, using regression analysis. Although further research is necessary, these results may serve as a useful criterion to select breeding stocks, especially in maternal abilities.

Investigation of Growth Hormone Gene Polymorphism Using PCR-RFLP Technique in Native Poultry in Khouzestan Province

Investigation of Growth Hormone Gene Polymorphism Using PCR-RFLP Technique in Native Poultry in Khouzestan Province

Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone I (GHI) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor I, a reduced risk of colorectal cancer and a predisposition to osteoporosis. Whether this intronic SNP is itself the functional polymorphism responsible for exerting a direct effect on GHI gene expression, however, or whether it is instead in linkage disequilibrium with the functional SNP, has been an open question. The evolutionary conservation of the +1169T allele (and the surrounding intronic sequence) in the bovine genome, as well as in primate genomes, is, however, suggestive of its functionality. Although a potential alternative splice site spans the location of the +1169 SNP, polymerase chain reaction-based assays failed to yield any evidence for alternative splicing associated with either allele. To determine whether the +1169 SNP, in different allelic combinations with SNPs at -278 (G/T), -57 (T/G) and +2103 (C/T), exerts a direct effect on gene expression and/or GH secretion, we performed a series of transfections of various GHI haplotype-expressing constructs into rat GC (somatotroph) cells. The results obtained provided evidence to support the contention that the +1169A allele contributes directly to the observed reduction in both GHI gene expression and GH secretion. Part of the apparent influence of the +1169A-bearing allele on GHI gene expression and GH secretion may still, however, be attributable to alleles of additional SNPs in cis to +1169A and located within either the promoter or the 3'-flanking region.

Plasma hormone and metabolite concentrations involved in the somatotropic axis of Japanese Black heifers in association with growth hormone gene polymorphism

Bovine growth hormone (bGH) gene polymorphism of leucine (Leu)-threonine (Thr) (allele A), valine (Val)-Thr (allele B), and Val-methionine (Met) (allele C) at codons 127 and 172 was shown to relate with carcass trait variations in Japanese Black cattle. In this study, 10-mo-old Japanese Black heifers with growth hormone (GH) genotypes AA, AB, BB, AC, BC, and CC (N = 141) were compared for basal GH, insulin-like growth factor-1 (IGF-1), insulin, ghrelin, glucose, and nonesterified fatty acid (NEFA) concentrations. Growth hormone release was also measured as response to growth hormone–releasing hormone (GHRH) (0.4 μg/kg body weight [BW]) using 18 heifers with GH genotypes AA, BB, and CC (n = 6 for each group). The genotype AA heifers showed the greatest BW among genotypes ( P < 0.05). Genotype AC, BC, and CC heifers showed greater GH concentrations than genotype AA, AB, or BB heifers, in which genotype CC heifers had the highest concentrations ( P < 0.05). However, IGF-1 concentrations did not significantly differ. The genotype AA and BB heifers had a greater GH release at 60 min following GHRH injection than did the genotype CC heifers. The area under the curve (AUC; P < 0.07) and incremental area (IA; P < 0.08) of GH responses to the GHRH challenge tended to be the highest in the genotype AA heifers and the lowest in the genotype CC heifers. In conclusion, GH gene polymorphism altered GH, which may have contributed to differences in BW and carcass traits among genotypes.

Associations of Growth Hormone Gene Polymorphisms with Milk Production Traits in South Anatolian and East Anatolian Red Cattle

Associations of Growth Hormone Gene Polymorphisms with Milk Production Traits in South Anatolian and East Anatolian Red Cattle

Effects of GH gene polymorphism and sex on carcass traits and fatty acid compositions in Japanese Black cattle

To investigate the effects of bovine growth hormone (bGH) gene polymorphism on carcass traits and fatty acid compositions in Japanese Black cattle caused by nucleotide substitution of CTG (allele A)/GTG (allele B) at codon 127 and of ACG (allele A and B)/ATG (allele C) at codon 172 of bGH, GH genotypes of 135 cattle were determined using allele specific-multiplex polymerase chain reaction (PCR). Allele A gave greater rib thickness and lower melting point of fat (MP) while allele B gave higher C18:1% (P < 0.05). Allele C gave higher C18:1, monounsaturated fatty acid (MUFA), unsaturated fatty acid (USFA) percentages (P < 0.05). It also gave lower saturated fatty acid (SFA) percentages, higher MUFA/SFA and USFA/SFA ratios, and lower MP (P < 0.05). Interactions of sex and GH alleles were analyzed. In heifers, allele A gave higher carcass weight, daily carcass gain, rib eye area, rib thickness, subcutaneous fat thickness, and BMS while allele B gave greater rib eye area and rib thickness (P < 0.05). Allele C gave higher C18:1 (P < 0.01), MUFA (P < 0.01), USFA percentages (P < 0.05) and MUFA/SFA and USFA/SFA ratios (P < 0.01), and lower C16:0 and SFA percentages (P < 0.05) and MP (P < 0.01). GH gene polymorphism affected carcass traits and fatty acid compositions although the effects were more pronounced in heifers.

AluI polymorphism of the bovine growth hormone (GH) gene, resumption of ovarian cyclicity, milk production and loss of body condition at the onset of lactation in dairy cows

Relationships among GH genotype ( AluI polymorphism), parity, metritis and interval from calving to first ovulation, milk production and body condition score (BCS) loss were determined in dairy cows ( n = 307) on four large-scale farms in Hungary. Cows with systemic signs of puerperal metritis or mastitis were excluded. Time of the first postpartum (PP) ovulation was obtained from milk progesterone profiles. Based on GH genotype determination, groups of leucine homozygous cows ( n = 246) and valine allele carriers ( n = 61) were formed. All animals became cyclic during the study period. The average interval to first ovulation was 27.6 ± 0.69-d PP (mean ± S.D.). Genotype had no effect on the commencement of ovarian cyclicity. First ovulation occurred sooner after calving in pluriparous than in primiparous cows. The greater BCS loss cows had during the first 30-d PP, the longer they took to resume cyclic ovarian function. The interval from calving to first ovulation was substantially affected by farm, but not by mild cases of puerperal metritis. Genotype was not related to cumulative 30-d milk yield or BCS loss after calving. Primiparous cows had lower milk yield than pluriparous ones. Cows with metritis lost more body condition than healthy individuals in the first month postpartum. We concluded that, under field conditions, AluI polymorphism of the bovine GH gene had no effect on the interval from calving to first ovulation and could not be directly related to differences in milk yield and to the extent of BCS loss during the first month after calving in Holstein–Friesian cows.

Single nucleotide polymorphism (SNP) in growth hormone gene of Jakhrana, a prominent milk goat breed in India

PCR-SSCP patterns on non-degenerative PAGE revealed 6 amplicons in caprine GH exon-4 and 3 alleles A 4, B 4 and C 4 were identified. In exon-5, six SSCP variants revealed three alleles A 5, B 5, and C 5. Out of 54 AA sites of GH-4 coding region, six codons were polymorphic. At codon-6, nucleotide substitution of G/A resulted in to genotypes 6 RR, 6 HH and G/C into genotypes 6 PP, 6 RP. At codon-36, A/G nucleotide substitution resulted in to newer genotypes 36 GG from that of 36 DD in reference Genbank sample. At codon-54, C/T nucleotide substitution caused change of amino acid (AA) from arginine (R) to tryptophan (W) resulted into a new genotype of 54 WW in comparison to 54 RR of Genbank reference sample. In exon-5, out of 67 AA sites 8 codons were polymorphic, but the codons 14 and 60 were preponderant. At codon-14, A/G substitution resulted into 3 genotypes 14 KK, 14 EE and 14 KE with frequency of 0.52, 0.38 and 0.10, respectively. At codon-60, G/C and G/A substitutions resulted in to 3 genotypes 60 GG, 60 RR and 60 GR with frequencies of 0.48, 0.42 and 0.10, respectively. Synonymous mutations as compared to Genbank accession D00476.1 were present at codons 25, 31 and 62 in all the animals of Jakhrana goats. The high genetic variability in GH gene exon-4 and exon-5 may be useful in exploring their associations with milk and growth traits in goat for further genetic improvement.

Genetic polymorphism of growth hormone gene in adolescent idiopathic scoliosis

To investigate whether the growth hormone gene (GH) promotor polymorphism (rs2854184) is associated with the occurrence or curve severity of adolescent idiopathic scoliosis (AIS). Two hundred and sixty-five AIS patients and 193 normal controls were recruited. The maximum Cobb angles were recorded in AIS patients. PCR-RFLP was used for the genotyping. The genotype frequency distribution were AA 38.3%, AT 50.3%, TT 11.4% in AIS patients and AA 39.6%, AT 50.2%, 10.1% TT in controls for the promotor polymorphism rs2854184 in GH gene. It was comparable between AIS and normal control. The allele frequency distribution was also comparable between AIS and normal control. It was 63.5% for allele A, 36.5% for allele T in AIS patients and 64.7% for allele A, 35.3% for allele T in normal control. The mean maximum Cobb angle in AIS patients with AA, AT, TT genotypes were 33.8 degrees +/- 10.0 degrees, 36.4 degrees +/- 15.0 degrees, 34.5 degrees +/- 9.1 degrees, respectively, it was similar with each other. The GH gene promoter polymorphism is neither associated with the occurrence nor the curve severity of AIS.

Polymorphism of the growth hormone gene and its association with growth traits in Boer goat bucks

In the present study, the polymorphism of growth hormone ( GH) gene was analyzed as a genetic marker candidate for growth traits in Boer goat bucks. Two single nucleotide polymorphisms (SNPs) – A781G (Ser/Gly35) and A1575G (Leu147), were identified by GH gene sequencing and PCR–RFLP (polymerase chain reaction–restriction fragment length polymorphism) analysis. AA genotype resulted in a significant decrease in birth chest girth ( P = 0.03) and weaning weight ( P = 0.014) comparing to AB genotype, while CC genotype contributed to weaning height ( P = 0.04) greater than CD genotype. When in combination, AACD genotype was undesired for lower scores in a series of growth traits including body weight, length, height, and chest girth at birth and weaning, as well as the pre-weaning daily gain and body weight at age of 11 months. These results indicate that new molecular markers associated with caprine growth traits can be used in MAS (marker-assisted selection) in Boer goat bucks.

Polymorphism in Growth Hormone Gene and its Association with Production Traits in Goats

Lan, X.Y., Chen, H., Pan, C.Y., Ming, L.J., Lei, C.Z., Hua, L.S., Zhang, C.L. and Hu, S.R. 2007. Polymorphism in growth hormone gene and its association with production traits in goats. J. Appl. Anim. Res., 32: 55–60. To detect the polymorphism in growth hormone gene in goats, five pairs of primers i.e. GUI & GH2 (for 5' UTR region), GH3 and GH4 (for 2nd exon region and flanking regions) and GH5 (for 5th exon and flanking 3′ UTR region) were used to amplify the respective regions. Polymorphic SSCP patterns were detected in all the amplified regions. Only association between SSCP in the 5th exon regions and milk yields in the third and fourth lactation was significant. There were several sequence variations in different amplified regions, however, 1651T-to-G mutation in exon 5 and flanking 3′ UTR region was used for PCR-RFLP genotyping of different goat breeds with KpnI. The KpnI PCR-RFLP identified two alleles i.e. GH-T and GH-G allele and two genotypes (TT/TG) in seven goat populations. Frequencies of GH-G allele were 0.142, 0.092, 0.032, 0.131, 0.059, 0.050 and zero for Xinong Sannen dairy, Laoshan dairy, Guanzhong dairy, Shaannan White, Guizhou White, Angora and Boer populations reared in China. The association between TT and TG genotype with milk performance, litter size and weight may be useful for studying breed characteristics.

Polymorphic analysis of intron 2 and 3 of growth hormone gene in duck

The single nucleotide polymorphism (SNP) of growth hormone gene was investigated in various breeds of duck, including Beijing ducks, Xihu mallards, Jinding ducks, Shan Partridge ducks, Jingjiang ducks and Shaoxing ducks. The primers for intron 2 and 3 in GH gene were designed based on the database of duck genomic sequence and the SNPs were detected by PCR-SSCP method. Eight SNPs were found among individuals within a breed, which were 2593(C-T), 2770(G-A), 2813(T-A), 2829(C-A), 2894(C-T), 2896(T-C), and 3100(C-G) in intron 2 and 3270(A-G) in intron 3. The analytic results showed that the frequencies of genotypes in different breeds were significantly different. Based on these SNPs, Beijing ducks and Shaoxing ducks represented their own unique conservativeness, indicating that these SNPs may have relationship with some productive traits of duck.

IDENTIFIKASI POLIMORFISME GEN GH (GROWTH HORMONE) SAPI BALI DENGAN METODE PCR-RFLP

This study was conducted to identify polymorphism of growth hormone gene of Bali cattle. A PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) procedure was developed for determining polymorphism of growth hormone gene. The DNA was isolated from blood samples by salting out method. Total DNA were amplified with forward primer, 5’-TAGGGGAGGGTGGAAAATGGA-3’ and reverse primer, 5’-GACACCTACTCAGACAATGCG-3’. The PCR product was digested by HaeIII restriction enzyme. Result of the amplification was a specific single band with fragment 450 bp. Restriction with HaeIII restriction enzyme resulted four kinds of haplotype. Haplotype I was not cut by HaeIII restriction enzyme. Haplotype II were cut into two, 225 bp and 150 bp,. Haplotype III were cut into three size, 400 bp, 225 bp and 150 bp. Haplotype IV were cut into five fragments 450 bp, 400 bp, 275 bp, 225 bp and 150 bp.

Human growth hormone (GH1) gene polymorphism map in a normal‐statured adult population

ObjectiveGH1 gene presents a complex map of single nucleotide polymorphisms (SNPs) in the entire promoter, coding and noncoding regions. The aim of the study was to establish the complete map of GH1 gene SNPs in our control normal population and to analyse its association with adult height.Design, subjects and measurementsA systematic GH1 gene analysis was designed in a control population of 307 adults of both sexes with height normally distributed within normal range for the same population: −2 standard deviation scores (SDS) to +2 SDS. An analysis was performed on individual and combined genotype associations with adult height.ResultsTwenty-five SNPs presented a frequency over 1%: 11 in the promoter (P1 to P11), three in the 5′UTR region (P12 to P14), one in exon 1 (P15), three in intron 1 (P16 to P18), two in intron 2 (P19 and P20), two in exon 4 (P21 and P22) and three in intron 4 (P23 to P25). Twenty-nine additional changes with frequencies under 1% were found in 29 subjects. P8, P19, P20 and P25 had not been previously described. P6, P12, P17 and P25 accounted for 6·2% of the variation in adult height (P = 0·0007) in this population with genotypes A/G at P6, G/G at P6 and A/G at P12 decreasing height SDS (−0·063 ± 0·031, −0·693 ± 0·350 and −0·489 ± 0·265, Mean ± SE) and genotypes A/T at P17 and T/G at P25 increasing height SDS (+1·094 ± 0·456 and +1·184 ± 0·432).ConclusionsThis study established the GH1 gene sequence variation map in a normal adult height control population confirming the high density of SNPs in a relatively small gene. Our study shows that the more frequent SNPs did not significantly contribute to height determination, while only one promoter and two intronic SNPs contributed significantly to it. Studies in larger populations will have to confirm the associations and in vitro functional studies will elucidate the mechanisms involved. Systematic GH1 gene analysis in patients with growth delay and suspected GH deficiency/insufficiency will clarify whether different SNP frequencies and/or the presence of different sequence changes may be associated with phenotypes in them.

IDENTIFIKASI POLIMORFISME GEN GH (GROWTH HORMONE) SAPI BALI DENGAN METODE PCR-RFLP:

This study was conducted to identify polymorphism of growth hormone gene of Bali cattle. A PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) procedure was developed for determining polymorphism of growth hormone gene. The DNA was isolated from blood samples by salting out method. Total DNA were amplified with forward primer, 5’-TAGGGGAGGGTGGAAAATGGA-3’ and reverse primer, 5’-GACACCTACTCAGACAATGCG-3’. The PCR product was digested by HaeIII restriction enzyme. Result of the amplification was a specific single band with fragment 450 bp. Restriction with HaeIII restriction enzyme resulted four kinds of haplotype. Haplotype I was not cut by HaeIII restriction enzyme. Haplotype II were cut into two, 225 bp and 150 bp,. Haplotype III were cut into three size, 400 bp, 225 bp and 150 bp. Haplotype IV were cut into five fragments 450 bp, 400 bp, 275 bp, 225 bp and 150 bp.

Associations between the AluI polymorphism of growth hormone gene and production and reproduction traits in a Hungarian Holstein-Friesian bull dam population

Abstract. The aim of this paper was to study the polymorphisms of bovine growth hormone gene. The authors genotyped 363 Hungarian Holstein-Friesian bull dams from 6 farms all over the country. Two variants (L and V) of the bovine growth hormone gene digested with AluI enzyme were identified in the experiment. Genotyping was carried out by PCR-RFLP method. The frequency data of L and V allele was 0.93 and 0.07 respectively. Distribution of the three genotypes were 87.05% (LL), 12.40% (LV) and 0.55% (VV). The studied population was in H-W equilibrium considering the genotype distribution. SPSS 11.0 for Windows was used to reveal the possible correlations between GH genotypes and production and reproduction traits and further statistical analyses. On the basis of statistical analyses it can be found that VV genotype cows had the longest milking period and LL had the shortest dry period. Both differences were significant. Cows with LV genotype had significantly higher test milking data than LL cows. Furthermore, LV genotype seemed to be advantageous for 305 days lactation milk yield. While milk composition traits, as 305 days milk fat and protein percent showed the opposite tendency, since LL genotyped dams produced significantly higher values in these traits.

Analysis of Bovine Growth Hormone Gene Polymorphisms in Three Iranian Native Breeds and Holstein Cattle by RFLP-PCR

Analysis of Bovine Growth Hormone Gene Polymorphisms in Three Iranian Native Breeds and Holstein Cattle by RFLP-PCR