Identification of nucleotide variation of growth hormone gene in rabbit populations reared in Bulgaria

Five rabbit populations of New Zealand White (NZW), Californian (CAL), crossbred NZW×GW and two generations of the synthetic population – SPF1 and SPF2 reared in Bulgaria were included in the present study with the aim of detecting the genetic variability of the growth hormone encoding gene (GH) via polymerase chain reaction with the restriction fragment length polymorphism analysis and direct sequencing. The targeted region of the rabbit GH gene was amplified and a fragment of a total of 231 bp was obtained in all studied populations. Allele identification was determined after enzymatic digestion, where two fragments of 62 and 169 bp correspond to allele C and an undigested fragment of 231 bp corresponds to allele T. Two additional bands of 107 and 124 bp evidenced A/G genetic polymorphism in the rabbit GH gene. Thirtyeight percent of the studied rabbits were carriers of the double mutation (C/T+A/G) in the same locus as the studied GH gene. The sequence analysis revealed two nucleotide substitutions – g.111C>T and g.156A>G in the non-coding region between the regulatory TATA box and 5’ UTR region, and a novel g.255G>A genetic variant in intron 1 of GH gene. The A>G transition was most frequent (40.57%), compared to the other ones, G>A (28.57%) and C>T (10.80%), respectively. The most frequent genotype in the NZW population was homozygous TT (0.93), with a prevalence of the T allele (0.97) over allele C (0.03) for g.111C>T SNP site. The distribution of the allele and genotype frequencies at the sites g.156A>G and g.255G>A in this rabbit group was identical, with the highest value of 0.93 for alleles A and G, respectively. The rabbit populations CAL and NZW×GW showed equal frequencies of the prevalent T allele (0.83) and for homozygous TT genotype (0.67) according to g.111C>T SNP. The highest values were obtained for the allele А (0.83) and for homozygous AA genotype (0.67) at c.33A>G SNP in these rabbit groups. The highest values (0.67, 0.60 and 0.80) for the heterozygous genotypes at g.111C>T, g.156A>G and g.255G>A SNPs, respectively, were detected among the SPF2 rabbit population, compared to the both homozygous genotypes. The results obtained in the present research indicates a significant degree of genetic variability of the studied polymorphic GH locus in the SPF2 rabbit group.

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PCR-RFLP Polymorphism of Growth Hormone Gene and Its Association with Growth and Morphometric Traits in Ganjam and Baigani Goats of Odisha

Indian Journal of Animal Research ◽

10.18805/ijar.b-3971 ◽

2020 ◽

Author(s):

D. K. Karna ◽

A. Aradhana ◽

G. D. Nayak ◽

N. Sahoo ◽

L. K. Sahoo ◽

...

Keyword(s):

Growth Hormone ◽

Genetic Variation ◽

Restriction Enzyme ◽

Gene Segment ◽

Growth Hormone Gene ◽

Morphometric Traits ◽

Exon 2 ◽

Genotype Frequencies ◽

Significant Difference ◽

Pcr Rflp

Background: Growth Hormone (GH) gene codes for the growth hormone, an anabolic hormone synthesized and secreted by the somatotroph cells of pituitary. Growth hormone influences many processes such as growth, lactation, reproduction and metabolism. Genetic variation in the gene are utilized as markers for selecting animals that are superior in terms growth, production and reproduction traits. Information available on the polymorphism of growth hormone gene of Ganjam and Baigani goats of Odisha is scanty. The current investigation was done to explore the genetic variation of this gene and its association with morphometric traits. Methods: Genetic polymorphism in exon 2 and 3 of Growth hormone gene in Ganjam goat and Baigani goat was explored with sample size of 100 goats for each. The goats belonged to three locations: Khallikote, Rambha, Chattrapur of Ganjam district. The goats were recorded for their body weights, morphometric traits and morphological traits. Genomic DNA was isolated, the target segment comprising exons 2 and 3 was amplified and PCR-RFLP was carried out using Hae III restriction enzyme. Genotypes were scored. Result: PCR of the locus resulted in 422 bp PCR product. PCR-RFLP using Hae III restriction enzyme yielded only two variants in both the populations. The variant A had only one restriction recognition site on the target gene segment yielding two bands with size of 366bp and 56bp whereas the variant B did not have any restriction site with single band of 422bp. Three genotypes AA, AB and BB were found in both the population. In both the population, the gene and genotype frequency were significantly deviated from the Hardy Weinberg Equilibrium frequency. There was a significant difference in the genotype frequencies of growth hormone gene between Ganjam and Baigani goats. The AB genotype had higher mean value for all morphometric traits than AA and BB genotype though the differences were not found to be significant.

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Single nucleotide polymorphism analysis in chicken growth hormone gene and its associations with growth and carcass traits

Chinese Science Bulletin ◽

10.1360/02wc0379 ◽

2003 ◽

Vol 48 (15) ◽

pp. 1561 ◽

Cited By ~ 1

Author(s):

Bingxue YAN

Keyword(s):

Growth Hormone ◽

Single Nucleotide Polymorphism ◽

Carcass Traits ◽

Polymorphism Analysis ◽

Growth Hormone Gene ◽

Single Nucleotide Polymorphism Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Single nucleotide polymorphism analysis in chicken growth hormone gene and its associations with growth and carcass traits

Chinese Science Bulletin ◽

10.1007/bf03183961 ◽

2003 ◽

Vol 48 (15) ◽

pp. 1561-1564 ◽

Cited By ~ 5

Author(s):

Bingxue Yan ◽

Xuemei Deng ◽

Jing Fei ◽

Xiaoxiang Hu ◽

Changxin Wu ◽

...

Keyword(s):

Growth Hormone ◽

Single Nucleotide Polymorphism ◽

Carcass Traits ◽

Polymorphism Analysis ◽

Growth Hormone Gene ◽

Single Nucleotide Polymorphism Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Detection and Partial Molecular Characterization of Two Plum pox virus Isolates from Plum and Wild Apricot in Southeast Kazakhstan

Plant Disease ◽

10.1094/pdis.2004.88.9.973 ◽

2004 ◽

Vol 88 (9) ◽

pp. 973-979 ◽

Cited By ~ 26

Author(s):

S. Spiegel ◽

E. M. Kovalenko ◽

A. Varga ◽

D. James

Keyword(s):

Nucleotide Sequence Analysis ◽

Enzyme Linked Immunosorbent Assay ◽

Plum Pox Virus ◽

Polymorphism Analysis ◽

Coding Region ◽

Rt Pcr ◽

Nucleotide Substitutions ◽

Western Blot Assay ◽

C Terminus ◽

Wild Apricot

Plum pox virus (PPV) was detected in wild apricot and cultivated plum maintained in a germ plasm collection in Kazakhstan. Both isolates were typed as D strain, with no evidence of recombination. The virus was detected by triple-antibody sandwich enzyme-linked immunosorbent assay (ELISA) utilizing the universal PPV-specific monoclonal antibody (MAb) 5B as the secondary antibody, and by reverse-transcription polymerase chain reaction (RT-PCR) assay using primers that amplified a 243-bp fragment in the C-terminus of the coat protein (CP) coding region. Immunocapture (IC) RT-PCR was used to detect PPV in nine wild apricot accessions, including eight ELISA-negative and one ELISA-positive. The plum and apricot isolates reacted positively in Western blot assay with the universal MAb 5B, and negatively with the strain-M-specific MAb-AL. Restriction fragment length polymorphism analysis applied to the amplified 243-bp fragment showed that restriction sites for AluI and RsaI were present in the were present in the plum and apricot samples. An amplified 836-bp cDNA fragment derived from the P3-6K1 coding region of both isolates had restriction profiles typical for strain D. Nucleotide identities of 99 to 100% were observed for the 243-bp fragments of the Kazakhstan isolates when compared with the corresponding regions of strain D, and 94 to 95% identity with strain M. Nucleotide sequence analysis of the entire CP coding region of the plum and apricotisolates resulted in the identification of a unique deletion of six nucleotides (two deduced proline amino acid residues) in the N-terminal region in the plum isolate. This is the first deletion of this nature observed among PPV isolates. The DAG motif was present in both isolates. Several nucleotide substitutions in the CP coding region were common to the plum and apricot isolates and appear to be unique to the Kazakstan isolates. This suggests a close relationship between the isolates.

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Association of Biometric Traits with Growth Hormone Gene Diversity in Raini Cashmere Goats

Walailak Journal of Science and Technology (WJST) ◽

10.48048/wjst.2019.3791 ◽

2018 ◽

Vol 16 (7) ◽

pp. 499-508

Author(s):

Fatemeh Gholamhoseinzadeh GOOKI ◽

Mohammadreza MOHAMMADABADI ◽

Masoud Asadi FOZI ◽

Mohammad SOFLAEI

Keyword(s):

Growth Hormone ◽

Gene Diversity ◽

Abdominal Circumference ◽

Fixation Index ◽

P Value ◽

Growth Hormone Gene ◽

Leg Length ◽

Genotype Frequencies ◽

Gh Gene ◽

Cashmere Goats

In recent years, the important effects of growth hormone on a broad variety of physiological parameters, such as lactation, reproduction, growth, and metabolism, have attracted many researchers' attentions. To detect GH gene polymorphism and its association with the biometric traits of Raini Cashmere goats, 300 animals were selected and the animals’ genotype was determined using PCR-RFLP. Two different genotypes (AA and AB) were observed in exons 2 and 3 within the goat GH gene. The genotype frequencies for AA, AB, and BB were 0.15, 0.85, and 0, and frequencies of the A and B alleles were 0.575 and 0.425, respectively. The number of observed alleles, number of effective alleles, expected heterozygosity, observed heterozygosity, mean of heterozygosity, expected homozygosity, observed homozygosity, Nei’s index, Shannon’s index, and Fixation index (Fis) were 2, 1.96, 0.49, 0.85, 0.49, 0.51, 0.15, 0.49, 0.69, and -0.74, respectively. Birth type had a significant effect on the Chest height to earth (T26) trait (P-value = 0.032304). Furthermore, a significant effect of age on some biometric traits were observed in this study. The frequency of the AB genotype for most of the traits were higher in comparison to the AA genotype, although some traits did not show a significant effect, which might be explained by the heterosis phenomenon. According to the results, it can be concluded that allele A of growth hormone is a suitable allele for the THH (Toe height of hand hoof), THF (Toe height of foot hoof), HHF (Heel height of foot hoof), and CHE (Chest height to earth) traits, and allele B is a worthy allele for the NI (Nasal interval), LCI (Lip corner interval), NL (Neck length), CC (Chest circumference), AC (Abdominal circumference), LLF (Leg length of foot), WHC (Wither height to under the chest), and DAD (Dorsal angle distance of scapula to Hänsch point) traits. Therefore, better results in the breeding programs for these traits can be achieved from this information, along with other phenotypic records.

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The growth hormone gene has evolved independently in African Pygmy Mouse Mus minutoides

10.1101/2021.04.12.439429 ◽

2021 ◽

Author(s):

Sumito Matsuya ◽

Hiroyuki Imai ◽

Yasuo Kiso ◽

Ken Takeshi Kusakabe ◽

Kiyoshi Kano

Keyword(s):

Gene Expression ◽

Growth Hormone ◽

Amino Acid Sequences ◽

Growth Hormone Gene ◽

Neighbor Joining ◽

Coding Region ◽

Transcriptional Regulatory ◽

African Pygmy Mouse ◽

Mus Minutoides ◽

Gene Expression Levels

AbstractMus minutoides (the African pygmy mouse) is one of the smallest mammals. We determined the nucleotide sequence of the growth hormone (Gh) gene and the sequence of the putative coding region in M. minutoides, where is predicted to be distinct in the functional and transcriptional regulatory regions between M. minutoides and Mus musculus (the House mouse). To investigate the evolutionary characteristics of Gh in M. minutoides, we constructed a phylogenetic tree based on the putative amino acid sequences of Gh in M. musculus and mammals by neighbor-joining method, suggesting that Gh diverged relatively earlier than other Mus genus and may have evolved independently in M. minutoides. Furthermore, analysis of Gh gene expression levels showed a tendency to be higher in M. minutoides than in M. musculus. Our results suggest that Gh may have evolved independently in M. minutoides and may have different functions and signaling in Mus genus.

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Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France

Thrombosis and Haemostasis ◽

10.1160/th05-05-0379 ◽

2006 ◽

Vol 95 (04) ◽

pp. 593-599 ◽

Cited By ~ 11

Author(s):

Christine Vinciguerra ◽

Christophe Zawadzki ◽

Yesim Dargaud ◽

Gilles Pernod ◽

Claire Berger ◽

...

Keyword(s):

Factor Viii ◽

Direct Sequencing ◽

Point Mutations ◽

Haemophilia A ◽

Missense Mutations ◽

Severe Haemophilia ◽

Coding Region ◽

Nucleotide Substitutions ◽

Large Deletions ◽

Fviii Inhibitor

SummaryDirect sequencing of the coding region of factor VIII (F8) gene was used to determine the mutations responsible for severe haemophilia A (FVIII<1%) in 128 unrelated haemophiliacs A, negative for intron 22 and intron 1 inversions. A mutation was found in 122/128 patients (95%). Ninety-six distinct mutations were identified in this cohort, 62 of these are novel. They consisted of deletions (7 large and 24 small deletions), insertions (n=9), associations of insertion/deletion (n=2), association of deletion/substitution (n=1), and single nucleotide substitutions (53 point mutations consisting of 31 missense, 20 nonsense, and 2 splicing mutations). Twenty-two patients had developed inhibitors, and among this subgroup 3 large deletions, 6 frameshift, 9 nonsense and 4 missense mutations were detected. For6 patients, among which one developed an anti-FVIII inhibitor, no mutations were detected in the coding and splicing regions of factor VIII gene. Different approaches of molecular modelling were performed in addition to familial linkage analysis to determine the pathophysiological responsibility of these novel missense mutations.

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Short Communication: A highly polymorphic caprine keratin-associated protein gene identified and its effect on cashmere traits

Journal of Animal Science ◽

10.1093/jas/skab233 ◽

2021 ◽

Author(s):

Shaobin Li ◽

Qiming Xi ◽

Fangfang Zhao ◽

Jiqing Wang ◽

Zhaohua He ◽

...

Keyword(s):

Sequence Similarity ◽

Fibre Diameter ◽

Single Strand Conformation Polymorphism ◽

Chromosome 1 ◽

Wool Fibre ◽

Polymorphism Analysis ◽

Coding Region ◽

Nucleotide Substitutions ◽

Cashmere Goats ◽

Conformation Polymorphism

Abstract Five keratin-associated protein 6 genes (KRTAP6) have been identified in sheep and variation in some KRTAP6 has been associated with wool fibre diameter-related traits, but none of these homologues has been identified in goats. In this study, we reported the identification of the sheep KRTAP6-5 homologue on goat chromosome 1 and PCR-single strand conformation polymorphism analysis in 300 Longdong cashmere goats revealed the existence of twelve variant sequences. Both coding region and 3’UTR of the putative caprine KRTAP6-5 displayed a biggest sequence similarity to ovine KRTAP6-5 gene. This suggested that the gene represents caprine KRTAP6-5 sequences, and these sequences composed twenty three genotypes which was the most polymorphism gene in KRTAPs that have been studied. Among these sequences, fifteen nucleotide substitutions and a 24-bp insertion/detection were identified. Variation in goat KRTAP6-5 was associated with variation in mean fibre diameter, suggesting that KRTAP6-5 is worthy of further study in the context of variation in cashmere traits.

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