Genetic characterization and identification of single nucleotide polymorphisms of ATP1A1 gene in Indian humped cattle

2015 ◽  
Author(s):  
A. Barani ◽  
K. P. Ramesha ◽  
M. Basavaraju ◽  
Akhila Rao ◽  
TVL. Narasimha Rao
Keyword(s):  
Heat Stress ◽  
Heat Tolerance ◽  
Direct Sequencing ◽  
Bos Indicus ◽  
Plasma Potassium ◽  
Single Strand Conformation Polymorphism ◽  
Integral Membrane Protein ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Information Index

Climate change in India is likely to aggravate the heat stress in dairy animals due to rise in temperature coupled with increased precipitation. In animals heat stress affects the alteration of plasma Potassium (K (+)) and Sodium Na (+) ions. ATP1A1 gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na+ and K+ ions across the plasma membrane. The present study is aimed to investigate the polymorphisms in the entire coding region of ATP1A1 gene in Bos indicus (Deoni) cattle by PCR- Single-Strand Conformation Polymorphism (PCR- SSCP) and direct sequencing of variants. Sequence analysis showed 16 SNPs, of which 5 SNPs were in the coding region and the remaining 11 SNPs were detected in the non-coding region of ATP1A1 gene. All the observed variations in the coding regions of ATP1A1 gene were silent mutations. The genotypic, allelic frequencies, c<sup>2</sup> test for Hardy-Weinberg equilibrium and Shannon’s information index were calculated using POPGENE-32. The study revealed a high degree of genetic variability in ATP1A1 gene in the Deoni cattle population which indicated the utility of this gene for further studies for identification of markers associated with heat tolerance in Indian humped cattle for using in marker assisted selection for heat tolerance.

scholarly journals Identification of somatostatin receptor type 5 gene polymorphisms associated with acromegaly

2011 ◽  
Vol 165 (4) ◽  
pp. 517-525 ◽  
Author(s):  
Darja Ciganoka ◽  
Inga Balcere ◽  
Ivo Kapa ◽  
Raitis Peculis ◽  
Andra Valtere ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Somatostatin Receptor ◽  
Strong Association ◽  
Upstream Region ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Additional Group ◽  
Unstandardized Regression Coefficient ◽  
Design And Methods

ObjectiveThe aim of this study was to characterize the genetic variance of somatostatin receptor 5 (SSTR5) and investigate the possible correlation of such variants with acromegaly risk and different disease characteristics.Design and methodsThe SSTR5 gene coding region and 2000 bp upstream region was sequenced in 48 patients with acromegaly and 96 control subjects. Further, three single nucleotide polymorphisms (SNPs) were analyzed in the same group of acromegaly patients and in an additional group of 475 age- and sex-matched controls.ResultsIn total, 19 SNPs were identified in the SSTR5 gene locus by direct sequencing. Three SNPs (rs34037914, rs169068, and rs642249) were significantly associated with the presence of acromegaly using the initial controls. The allele frequencies were significantly (P<0.01) different between the acromegaly patients and the additional large control group. rs34037914 and rs642249 remained significantly associated with acromegaly after Bonferroni correction and permutation tests (odds ratio (OR)=3.38; 95% confidence interval (CI), 1.78–6.42; P=0.00016 and OR=2.41; 95% CI, 1.41–4.13; P=0.0014 respectively). Haplotype reconstruction revealed two possible risk haplotypes determined by rs34037914 (633T) and rs642249 (1044A) alleles. Both haplotypes were found in significantly higher frequency in acromegaly patients compared with controls (P<0.001). In addition, the 663T allele was significantly associated with a younger age of acromegaly diagnosis (unstandardized regression coefficient β=−10.4; P=0.002), increased body mass index (β=4.1; P=0.004), higher number of adenoma resection (P<0.001) and lack of observable tumor shrinkage after somatostatin analog treatment (P=0.014).ConclusionsOur results demonstrate a previously undetected strong association of two SSTR5 SNPs with acromegaly. The data also suggest a possible involvement of SSTR5 variants in decreased suppression of GH production and increased tumor proliferation.

Sequence characterization and polymorphism detection in lactoferrin gene of Deoni (Bos indicus) cattle

2015 ◽  
Author(s):  
Arun Pratap Singh ◽  
K. P. Ramesha ◽  
S. Isloor ◽  
P. Divya ◽  
Ashwani Arya ◽  
...  
Keyword(s):  
Bos Indicus ◽  
Point Mutations ◽  
Single Strand Conformation Polymorphism ◽  
Potential Candidate ◽  
Coding Region ◽  
Cattle Breeding ◽  
Sequence Characterization ◽  
Potential Candidate Gene ◽  
Dairy Cattle Breeding ◽  
Lactoferrin Gene

Lactoferrin is an iron binding glycoprotein which plays an essential role in antimicrobial defense and a potential candidate gene in dairy cattle breeding. The present study was undertaken with the objective of sequence characterization and identification of polymorphisms within exons 2, 3 and 14 and their flanking intronic regions in lactoferrin gene of Deoni (Bos indicus) cattle by single strand conformation polymorphism (SSCP). Amplicons of exons 4, 5 and 16 showed monomorphic patterns. PCR-SSCP analysis revealed a total of eight different variants in three investigated regions of the lactoferrin gene. The locus LtfE2 revealed four different variants, viz. LtfE2-A, LtfE2-B, LtfE2-C and LtfE2-D with the frequency of 0.42, 0.26, 0.22 and 0.10, respectively. Analysis of exon 3 and 14 revealed two unique SSCP patterns with the frequencies of 0.54 and 0.46, 0.86 and 0.14 respectively. Comparison of nucleotide sequences of lactoferrin gene of the Deoni cattle with taurine cattle revealed a total of 12 point mutations, 11 of which were found to be in coding region with 10 transitions. Conceptualized translation of nucleotide sequence revealed 5 amino acid changes. The SNPs identified in the coding region of lactoferrin gene may serve as potential genetic marker (s) in cattle for disease resistance.

scholarly journals Genetic variation in heat tolerance of the coral Platygyra daedalea offers the potential for adaptation to ocean warming

2020 ◽  
Author(s):  
Holland Elder ◽  
Virginia Weis ◽  
Jose Montalvo-Proano ◽  
Veronique J.L Mocellin ◽  
Andrew H. Baird ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Heat Stress ◽  
Heat Tolerance ◽  
Nucleotide Polymorphisms ◽  
Narrow Sense Heritability ◽  
Coding Regions ◽  
Genomic Tools ◽  
Coral Reef Ecosystems ◽  
Few Data ◽  
Genomic Regions

AbstractReef-building corals are foundational species in coral reef ecosystems and are threatened by many stressors including rising ocean temperatures. In 2015/16 and 2016/17, corals around the world experienced consecutive bleaching events and most coral populations are projected to experience temperatures above their current bleaching thresholds annually by 2050. Adaptation to higher temperatures is therefore necessary if corals are to persist in a warming future. While many aspects of heat stress have been well studied, few data are available for predicting the capacity for adaptive cross-generational responses in corals. To address this knowledge gap, we quantified the heritability and genetic variation associated with heat tolerance in Platygyra daedalea from the Great Barrier Reef (GBR). We tracked the survival of replicate quantitative genetic crosses (or families) of coral larvae from six parents in a heat stress selection experiment. We also identified allelic shifts in heat-selected survivors versus paired, non-selected controls of the same coral crosses. We estimated narrow sense heritability to be 0.66 and detected a total of 1,069 single nucleotide polymorphisms (SNPs) associated with heat tolerance. An overlap of 148 unique SNPs shared between experimental crosses indicates that specific genomic regions are responsible for heat tolerance of P. daedalea and some of these SNPs fall in coding regions. These findings suggest that this P. daedalea population has the genetic prerequisites for adaptation to increasing temperatures. This study also provides knowledge for the development of high throughput genomic tools to screen for variation within and across populations to harness or enhance adaptation through assisted gene flow and assisted migration.

scholarly journals The Association Between Novel Polymorphisms of Gremlin Genes and Egg-Laying Performance Traits in Chinese Village Dagu Hens

2018 ◽  
Vol 18 (2) ◽  
pp. 361-373 ◽  
Author(s):  
Thobela Louis Tyasi ◽  
Ning Qin ◽  
Dehui Liu ◽  
Xiaotian Niu ◽  
Hongyan Zhu ◽  
...  
Keyword(s):  
Amino Acids ◽  
Egg Production ◽  
Single Strand Conformation Polymorphism ◽  
Synonymous Substitution ◽  
Egg Laying ◽  
Nucleotide Polymorphisms ◽  
Production Traits ◽  
Coding Region ◽  
Laying Performance ◽  
Performance Traits

Abstract Gremlin (GREM1, GREM2) genes are the known bone morphogenetic proteins (BMPs) inhibitors, but their genetic diversity in animal species remains unknown. The current study was conducted to investigate single nucleotide polymorphisms (SNPs) in chicken GREM1 and GREM2 genes, and their association with egg production traits using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and deoxyribonucleic acid (DNA) sequencing. The results discovered novel SNPs and, among these variations, C/T transition at position 436 in exon 1 of the GREM1 gene leads to synonymous substitution of amino acids, and T/C transition at position 690 in the coding region of the GREM2 gene leads to a non-synonymous substitution of amino acids (valine acid 114-to-alanine acid). Association analysis established that at the age of 43, 57 and 66 wks, hen-house egg production (HHEP) was more highly significantly associated (P<0.05) with the AA genotype in the GREM1 gene. In the GREM2 gene, the TC genotype was remarkably linked with higher HHEP at the age of 30, 57 and 66 wks. Our results provide evidence that the GREM1 and GREM2 genes have potential effects on HHEP in chickens. SNPs determined in this work may be utilised as favourable potential DNA markers for improving of egg-laying performance traits.

Sequence characterization and polymorphism detectionin AQP7 gene of Murrah buffalo

2016 ◽  
Author(s):  
Ragini Kumari ◽  
K.P. Ramesha ◽  
Rakesh Kumar ◽  
Divya Divya ◽  
Anjali Kumari ◽  
...  
Keyword(s):  
Semen Quality ◽  
Single Strand Conformation Polymorphism ◽  
Sscp Analysis ◽  
Reference Sequence ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Single Nucleotide ◽  
Sequence Characterization ◽  
Murrah Buffalo ◽  
Aquaporin 7

Aquaporin 7 (AQP7) gene is a member of aqua-glyceroporins which transports glycerol and water to spermatids. The present study aimed to investigate the polymorphisms within exons 2, 3, 4, 5 and their flanking intronic regions in AQP7 gene of Murrah bulls. Genomic DNA was extracted from 69 Murrah bulls blood samples and was subjected to polymerase chain reaction- single strand conformation polymorphism (PCR-SSCP) analysis. PCR-SSCP analysis revealed a total of eight different variants for amplicons of exons 4 and 5. Amplicon of exon 4 revealed three different patterns viz. E4P1, E4P2 and E4P3 with the frequency of 0.30, 0.22 and 0.48, respectively. Analysis of exon 5 revealed five unique SSCP patterns viz. E5P1, E5P2, E5P3, E5P4 and E5P5, with the frequency of 0.10, 0.37, 0.20, 0.20 and 0.13, respectively. Sequence analysis showed 16 single nucleotide polymorphisms, 7 of which were observed in coding region. Amplicons of exons 2 and 3 showed monomorphic patterns. However, compared to the reference sequence of taurine cattle one transition (C6878T) in exon 3 and 4 transitions (G2099A, C2116T, A2117G, G6848C) in intron 2 were observed for all the bulls under study. The genetic variability identified in the AQP7 gene may serve as potential genetic marker(s) for semen quality traits in buffalo.

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

2006 ◽  
Vol 43 (2) ◽  
pp. 148-151 ◽  
Author(s):  
Fernanda Sarquis Jehee ◽  
Luis G. Alonso ◽  
Denise P. Cavalcanti ◽  
Chong Kim ◽  
Steven A. Wall ◽  
...  
Keyword(s):  
High Performance ◽  
Direct Sequencing ◽  
Nucleotide Polymorphisms ◽  
Related Gene ◽  
Inclusion Criteria ◽  
Coding Region ◽  
Single Nucleotide ◽  
Metopic Synostosis ◽  
Mutational Screening ◽  
Johns Hopkins University

Objective Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. Design Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. Patients Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. Results No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. Conclusions: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.

scholarly journals Variation in the Caprine KAP24-1 Gene Affects Cashmere Fibre Diameter

Animals ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. 15 ◽  
Author(s):  
Jiqing Wang ◽  
Huitong Zhou ◽  
Yuzhu Luo ◽  
Mengli Zhao ◽  
Hua Gong ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Fibre Diameter ◽  
Pcr Amplification ◽  
Pcr Primers ◽  
Single Strand Conformation Polymorphism ◽  
Chromosome 1 ◽  
Start Codon ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Cashmere Goats

The keratin-associated proteins (KAPs) are structural components of cashmere fibres. The gene encoding the high-sulphur (HS)-KAP24-1 (KRTAP24-1) has been identified in humans and sheep, but it has not been described in goats. In this study, we report the identification of caprine KRTAP24-1, describe variation in this gene, and investigate the effect of this variation on cashmere traits. A search for sequences orthologous to the ovine gene in the goat genome revealed a 774 bp open reading frame on chromosome 1, which could encode an HS-KAP. Based on this goat genome sequence and comparison with ovine KRTAP24-1 sequences, polymerase chain reaction (PCR) primers were designed to amplify an 856 bp fragment that would contain the entire coding region of the putative caprine KRTAP24-1. Use of this PCR amplification with subsequent single-strand conformation polymorphism (SSCP) analysis of the amplicons identified four distinct patterns of DNA bands on gel electrophoresis, with these representing four different DNA sequences (A to D), in 340 Longdong cashmere goats reared in China. The variant sequences had the highest similarity to KRTAP24-1 sequences from sheep and humans, suggesting that they are variants of caprine KRTAP24-1. Nine single-nucleotide polymorphisms (SNPs) were detected in the gene, including four non-synonymous SNPs and an SNP in proximity to the ATG start codon. Of the three common genotypes (AA, AB, and BB) found in these Longdong cashmere goats, cashmere fibres from goats of genotype AA had lower mean fibre diameter (MFD) than did those of genotype AB, and cashmere fibres from goats of genotype AB had lower MFD than did those from goats of genotype BB.

Single nucleotide polymorphisms in Heat Shock Protein (HSP) 90AA1 gene and their association with heat tolerance traits in Sahiwal cows

2015 ◽  
Author(s):  
Rakesh Kumar ◽  
I. D. Gupta ◽  
Archana Verma ◽  
Nishant Verma ◽  
M. R. Vineeth
Keyword(s):  
Heat Stress ◽  
Heat Shock ◽  
Heat Tolerance ◽  
Bos Taurus ◽  
Comparative Sequence Analysis ◽  
Production Performance ◽  
Nucleotide Polymorphisms ◽  
Sahiwal Cows ◽  
Shock Proteins ◽  
Hsp Genes

Heat Shock Proteins (HSPs) are group of proteins which are synthesized during heat stress. HSP genes have been reported to be associated with heat tolerance and production performance in cattle. HSP90AA1 gene has been mapped on Bos taurus autosome 21 (BTA 21) and spans nearly 5368 bp comprising 11 exons out of which first exon does not translate. The present study was carried out in Sahiwal cows (n=100) with the objectives to identify SNPs in targeted regions (exon 3, 7, 8 & 11) of HSP90AA1 gene and to analyze their association with heat tolerance traits in Sahiwal cows. Respiration rate (RR) and rectal temperature (RT) was recorded once during probable extreme hours in winter, spring and summer season. Further, heat tolerance coefficient (HTC) also calculated to see the adaptability of the animals during the period of heat stress. On the basis of comparative sequence analysis, total five SNPs were revealed at position of A1209G, A3292C, T4935C, T5218C and A5224C in the targeted region of HSP90AA1 gene. Out of these, only two SNPs at A1209G and A3292C loci were found significantly associated with heat tolerance traits in Sahiwal cows. Whereas, THI has a highly significant associated with RR, RT and HTC in all the seasons. At A1209G locus in Sahiwal cows for traits RR, genotype AA (18.40±0.46a), AG (19.60±0.85b) and GG (21.18± 0.64ab) and trait HTC AA (1.78±0.04a), AG (1.85±0.03b) and GG (1.91± 0.02c) differ significantly (p<0.01) while trait RT, AG (38.32±0.10b) and GG (38.27±0.08ab) didn’t differ significantly. For a locus A3292C for traits RR, genotype AA (21.55±1.01a), AC (19.66±1.59b) and CC (18.40±1.03c) differ significantly (p<0.05), while traits RT, genotype AA (38.41±0.12), AC (38.28±0.20) and CC (37.96±0.15) didn’t differ significantly. For trait HTC, AA (1.93±0.04a), AC (1.85±0.06b) and CC (1.79±0.05c) found significantly (p<0.05) differ with each other. Our study indicated that Sahiwal cows of AA and AC genotype had better thermo-tolerance capacity, which had been useful for genetic improvement of Sahiwal cattle for heat tolerance traits.

scholarly journals Genotype-by-environment interaction in Holstein heifer fertility traits using single-step genomic reaction norm models

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Rui Shi ◽  
Luiz Fernando Brito ◽  
Aoxing Liu ◽  
Hanpeng Luo ◽  
Ziwei Chen ◽  
...  
Keyword(s):  
Heat Stress ◽  
Dairy Cattle ◽  
Candidate Genes ◽  
Heat Tolerance ◽  
Reaction Norm ◽  
Single Step ◽  
Conception Rate ◽  
Critical Periods ◽  
Genotype By Environment ◽  
Fertility Traits

Abstract Background The effect of heat stress on livestock production is a worldwide issue. Animal performance is influenced by exposure to harsh environmental conditions potentially causing genotype-by-environment interactions (G × E), especially in highproducing animals. In this context, the main objectives of this study were to (1) detect the time periods in which heifer fertility traits are more sensitive to the exposure to high environmental temperature and/or humidity, (2) investigate G × E due to heat stress in heifer fertility traits, and, (3) identify genomic regions associated with heifer fertility and heat tolerance in Holstein cattle. Results Phenotypic records for three heifer fertility traits (i.e., age at first calving, interval from first to last service, and conception rate at the first service) were collected, from 2005 to 2018, for 56,998 Holstein heifers raised in 15 herds in the Beijing area (China). By integrating environmental data, including hourly air temperature and relative humidity, the critical periods in which the heifers are more sensitive to heat stress were located in more than 30 days before the first service for age at first calving and interval from first to last service, or 10 days before and less than 60 days after the first service for conception rate. Using reaction norm models, significant G × E was detected for all three traits regarding both environmental gradients, proportion of days exceeding heat threshold, and minimum temperature-humidity index. Through single-step genome-wide association studies, PLAG1, AMHR2, SP1, KRT8, KRT18, MLH1, and EOMES were suggested as candidate genes for heifer fertility. The genes HCRTR1, AGRP, PC, and GUCY1B1 are strong candidates for association with heat tolerance. Conclusions The critical periods in which the reproductive performance of heifers is more sensitive to heat stress are trait-dependent. Thus, detailed analysis should be conducted to determine this particular period for other fertility traits. The considerable magnitude of G × E and sire re-ranking indicates the necessity to consider G × E in dairy cattle breeding schemes. This will enable selection of more heat-tolerant animals with high reproductive efficiency under harsh climatic conditions. Lastly, the candidate genes identified to be linked with response to heat stress provide a better understanding of the underlying biological mechanisms of heat tolerance in dairy cattle.

scholarly journals Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 571
Author(s):  
Fengyan Wang ◽  
Mingxing Chu ◽  
Linxiang Pan ◽  
Xiangyu Wang ◽  
Xiaoyun He ◽  
...  
Keyword(s):  
Litter Size ◽  
Tertiary Structure ◽  
Novel Mutation ◽  
Major Gene ◽  
Ovis Aries ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Coding Region ◽  
Association Analyses ◽  
Gdf9 Gene

Litter size is one of the most important economic traits in sheep. GDF9 and BMPR1B are major genes affecting the litter size of sheep. In this study, the whole coding region of GDF9 was sequenced and all the SNPs (single nucleotide polymorphisms) were determined in Luzhong mutton ewes. The FecB mutation was genotyped using the Sequenom MassARRAY®SNP assay technology. Then, the association analyses between polymorphic loci of GDF9 gene, FecB, and litter size were performed using a general linear model procedure. The results showed that eight SNPs were detected in GDF9 of Luzhong mutton sheep, including one novel mutation (g.41769606 T > G). The g.41768501A > G, g.41768485 G > A in GDF9 and FecB were significantly associated with litter size in Luzhong mutton ewes. The g.41768485 G > A is a missense mutation in the mature GDF9 protein region and is predicted to affect the tertiary structure of the protein. The results preliminarily demonstrated that GDF9 was a major gene affecting the fecundity of Luzhong mutton sheep and the two loci g.41768501A > G and g.41768485 G > A may be potential genetic markers for improving litter size.

Sign in / Sign up

Export Citation Format

Share Document