A novel missense mutation (rs464874590) within BoLA-DOB gene associated with the heat-resistance in Chinese cattle

Gene ◽  
2021 ◽  
pp. 145965
Author(s):  
Yangkai Liu ◽  
Luyang Sun ◽  
Xiaohui Ma ◽  
Kaixing Qu ◽  
Jianyong Liu ◽  
...  
Keyword(s):  
Heat Resistance ◽  
Missense Mutation ◽  
Chinese Cattle

scholarly journals Differential Expression of KCNJ12 Gene and Association Analysis of Its Missense Mutation with Growth Traits in Chinese Cattle

Animals ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. 273 ◽  
Author(s):  
Jie Cheng ◽  
Wenwen Peng ◽  
Xiukai Cao ◽  
Yongzhen Huang ◽  
Xianyong Lan ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Missense Mutation ◽  
Association Analysis ◽  
Growth Traits ◽  
Muscle Cells ◽  
Skeletal Muscle Cells ◽  
Economic Traits ◽  
Functional Candidate Gene ◽  
Chinese Cattle ◽  
Bovine Skeletal Muscle

The potassium inwardly rectifying channel, subfamily J, member 12 (KCNJ12) gene is a promising candidate for economic traits because of its crucial roles in myoblast development. Here, a missense mutation (Cys > Arg) was first detected to be located in exon 3 of KCNJ12 from three Chinese cattle breeds by DNA-pool sequencing. Then, we performed an association analysis of this single-nucleotide polymorphism (SNP) with stature in three Chinese cattle populations (n = 820). A significantly positive correlation was revealed by a reduced animal general linear model and the CC genotype was the most favorable in three breeds. Further, we measured the expression profile of the KCNJ12 gene in various cattle tissues and primary bovine skeletal muscle cells. Ubiquitous expression with high abundance in muscle was observed. Further, in primary bovine skeletal muscle cells, the KCNJ12 mRNA expression was gradually up-regulated in differentiation medium (DM) compared with that in growth medium (GM), suggesting that the KCNJ12 gene is involved in bovine myocyte differentiation. Conclusively, the KCNJ12 gene is a functional candidate gene which can be used as a molecular marker for cattle breeding.

A novel missense mutation within KRT75 gene strongly affects heat stress in Chinese cattle

Gene ◽  
2021 ◽  
Vol 768 ◽  
pp. 145294
Author(s):  
Cuicui Cai ◽  
Bizhi Huang ◽  
Kaixing Qu ◽  
Jicai Zhang ◽  
Chuzhao Lei
Keyword(s):  
Heat Stress ◽  
Missense Mutation ◽  
Chinese Cattle

scholarly journals A Missense Mutation in KCNJ12 Was Strongly Associated with Beef Cattle Stature

2019 ◽  
Author(s):  
Jie Cheng ◽  
Wenwen Peng ◽  
Xiukai Cao ◽  
Yongzhen Huang ◽  
Xianyong Lan ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Beef Cattle ◽  
Missense Mutation ◽  
Muscle Cells ◽  
Skeletal Muscle Cells ◽  
Economic Traits ◽  
Functional Candidate Gene ◽  
Chinese Cattle ◽  
Myocyte Differentiation ◽  
Bovine Skeletal Muscle

Potassium inwardly-rectifying channel, subfamily J, member 12 (KCNJ12) gene is one promising candidate for economic traits because of its crucial roles in myoblast development. Here, a missense mutation (Cys>Arg), was firstly detected to locate in exon 3 of KCNJ12 from three Chinese cattle breeds by DNA-pool sequencing. Then, we performed the association analysis of this SNP with stature in three Chinese cattle populations (n = 820). Significantly positive correlation was revealed by reduced animal general linear model and the genotype of CC is the most excellent genotype in three breeds. Further, we measured the expression profiling of the KCNJ12 gene in various cattle tissues and primary bovine skeletal muscle cells. Ubiquitous expression with high abundance in muscle was observed. Further, in primary bovine skeletal muscle cells, the KCNJ12 mRNA expression was gradually up-regulated in differentiation medium (DM) compared with that in growth medium (GM), suggesting that KCNJ12 gene is involved in bovine myocyte differentiation. Conclusively, KCNJ12 gene is a functional candidate gene which can be used as molecular marker for beef cattle breeding.

279: Inhibition of Cyclooxygenase-2 Pathway Overcomes the Heat-Resistance in Prostate Cancer Cells

2007 ◽  
Vol 177 (4S) ◽  
pp. 93-93
Author(s):  
Makoto Sumitomo ◽  
Kenji Kuroda ◽  
Takako Asano ◽  
Akio Horiguchi ◽  
Keiichi Ito ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Heat Resistance ◽  
Cancer Cells ◽  
Cyclooxygenase 2 ◽  
Prostate Cancer Cells

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

1994 ◽  
Vol 72 (01) ◽  
pp. 065-069 ◽  
Author(s):  
J M Soria ◽  
D Brito ◽  
J Barceló ◽  
J Fontcuberta ◽  
L Botero ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gene Product ◽  
Splice Site ◽  
Protein C ◽  
Purpura Fulminans ◽  
Single Strand Conformation Polymorphism ◽  
Donor Splice Site ◽  
Protein C Deficiency ◽  
Donor Splice ◽  
Newborn Child

SummarySingle strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

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