scholarly journals The AlpacaMelanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Bathrachalam Chandramohan ◽  
Carlo Renieri ◽  
Vincenzo La Manna ◽  
Antonietta La Terza
Keyword(s):  
Coat Color ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Specific Expression ◽  
Additional Information ◽  
Skin Biopsies ◽  
Ventral Skin

The objectives of the present study were to characterize theMC1Rgene, its transcripts and the single nucleotide polymorphisms (SNPs) associated with coat color in alpaca. Full length cDNA amplification revealed the presence of two transcripts, named as F1 and F2, differing only in the length of their 5′-terminal untranslated region (UTR) sequences and presenting a color specific expression. Whereas the F1 transcript was common to white and colored (black and brown) alpaca phenotypes, the shorter F2 transcript was specific to white alpaca. Further sequencing of theMC1Rgene in white and colored alpaca identified a total of twelve SNPs; among those nine (four silent mutations (c.126C>A, c.354T>C, c.618G>A, and c.933G>A); five missense mutations (c.82A>G, c.92C>T, c.259A>G, c.376A>G, and c.901C>T)) were observed in coding region and three in the 3′UTR. A 4 bp deletion (c.224 227del) was also identified in the coding region. Molecular segregation analysis uncovered that the combinatory mutations in theMC1Rlocus could cause eumelanin and pheomelanin synthesis in alpaca. Overall, our data refine what is known about theMC1Rgene and provides additional information on its role in alpaca pigmentation.

scholarly journals Detection of Polymorphisms in the MTNR1A Gene and Their Association with Reproductive Performance in Awassi Ewes

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 583
Author(s):  
Giovanni Cosso ◽  
Michella Nehme ◽  
Sebastiano Luridiana ◽  
Luisa Pulinas ◽  
Giulio Curone ◽  
...  
Keyword(s):  
Reproductive Performance ◽  
Body Condition Score ◽  
Receptor Gene ◽  
Reproductive Activity ◽  
Farming System ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Awassi Sheep ◽  
Condition Score

The economy in Mediterranean areas is tightly linked to the evolution of the sheep-farming system; therefore, improvement in ewe’s reproductive performance is essential in the developing countries of this area. MTNR1A is the gene coding for Melatonin receptor 1 (MT1), and it is considered to be involved in the reproductive activity in sheep. The aims of this study were: (1) identifying the polymorphisms from the entire MTNR1A coding region and promoter in Lebanese Awassi sheep flocks, and (2) investigating the association between the found polymorphisms and the reproductive performance, assessed as lambing rate, litter size, and days to lambing (DTL). The study was conducted in two districts of Lebanon, where 165 lactating ewes, aged 5.2 ± 1.5 years, with body condition score (BCS) 3.3 ± 0.4, were chosen and exposed to adult and fertile rams. From 150 to 220 days after ram introduction, lambing dates and litter sizes were registered. This study provided the entire coding region of the MTNR1A receptor gene in the Awassi sheep breed. Thirty-one single nucleotide polymorphisms (SNPs) were detected, five of which were missense mutations. The H2, H3, and H4 haplotypes were associated with lower DTL (p < 0.05), as well as the SNPs rs430181568 and rs40738822721, named from now on SNP20 and SNP21, respectively. These SNPs were totally linked and can be considered as a single marker. The ewes carrying the C allele at both these polymorphic sites advanced their reproductive recovery (p < 0.05). These results are essential for improving reproductive management and obtaining advanced lambing in Awassi ewes.

Absence of angiotensin II type 1 receptor gene mutations in human adrenal tumors

1997 ◽  
pp. 262-266 ◽  
Author(s):  
R Sachse ◽  
XJ Shao ◽  
A Rico ◽  
U Finckh ◽  
A Rolfs ◽  
...  
Keyword(s):  
Angiotensin Ii ◽  
Receptor Gene ◽  
Gene Mutations ◽  
At1 Receptor ◽  
Adrenal Tumors ◽  
Base Substitution ◽  
Coding Region ◽  
Activating Mutations ◽  
Activating Mutation

Regulatory actions of angiotensin II (AngII), which is involved in the pathophysiology of hypertension and also participates in cell proliferation and cell differentiation, are mainly mediated by AngII type 1 (AT1) receptor. Recently, activating mutations of receptors causing hyperfunctioning endocrine diseases have been described in the case of the TSH and LH receptors, implicating that such mutations might occur in other G-protein-coupled receptors. Furthermore it seems to be possible that genetic variations of AT1 receptor have an influence upon the action of AngII. Therefore, we searched by sequence analysis of the coding region of AT1 receptor gene for activating mutations and genetic polymorphisms in 56 human adrenal tumors (16 aldosterone-producing adenomas, 10 cortisol-producing adenomas, 1 aldosterone-producing carcinoma, and 29 incidentalomas). We were not able to identify any activating mutation in the coding region of AT1 receptor gene. We conclude that activating mutations of the AT1 receptor are not a major cause of the development of adrenal adenomas, if at all. In addition, polymorphic subtypes of AT1 receptor do not seem to play a major role in the pathogenesis of these tumors, even though a tendency towards a higher frequency of the polymorphic base substitution at position 573 (T573-->C) in cortisol-producing tumors needs to be further evaluated.

scholarly journals MLH1 and MSH2 Gene Mutations and Polymorphisms in Six Malay Families with Hereditary Nonpolyposis Colorectal Cancer

2020 ◽  
Vol 17 (1) ◽  
Author(s):  
Wan Khairunnisa Wan Juhari ◽  
Khairul Bariah Ahmad Amin Noordin ◽  
Wan Faiziah Wan Abdul Rahman ◽  
Andee Dzulkarnaen Zakaria ◽  
Ahmad Shanwani Mohd Sidek ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Genetic Alterations ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Msh2 Gene ◽  
Hereditary Nonpolyposis ◽  
The Impact

Background: Hereditary nonpolyposis colorectal cancer (HNPCC) also known as Lynch syndrome is commonly caused by genetic alterations in any of the four mismatch repair (MMR) genes; MLH1, MSH2, MSH6 and PMS2. This is the first study aimed to investigate genetic variants in Malay HNPCC families. Methods: Six Malay HNPCC families who fulfilled any of the Bethesda criteria were recruited into this study. A total of 3 ml of blood was withdrawn from each patient in the families. The samples were further analyzed using polymerase chain reaction and direct sequencing of the selected exons of MLH1 and MSH2 genes. Results: Two missense mutations and four single nucleotide polymorphisms (SNPs) were identified in six patients. These variants in the MLH1 and MSH2 genes were identified in four families who met the revised Bethesda guidelines. In two families, no mutation and polymorphism was identified in both the exon and intron of the respective genes. Of the mutations and polymorphisms identified, five have never been reported in Malay HNPCC families before. A missense mutation was detected in exon 5 of the MLH1 gene, c.394G>C (p.Asp132His) and four mutations and polymorphisms were detected in the MSH2 gene; heterozygous c.211+98T>C and c.211+9C>G and homozygous c.211+98T>C and c.211+9C>G, c.367-86A>C and c.382C>G. Conclusion: The results represented a new spectrum of mutations and polymorphisms in the Malay HNPCC families. However, a larger study involving additional families and analysis is required to determine the impact and nature of the identified mutations and polymorphisms.

scholarly journals Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis

2011 ◽  
Vol 165 (2) ◽  
pp. 353-358 ◽  
Author(s):  
Elena Livadariu ◽  
Renata S Auriemma ◽  
Catherine Rydlewski ◽  
Silvia Vandeva ◽  
Etienne Hamoir ◽  
...  
Keyword(s):  
Calcium Homeostasis ◽  
Genetic Disorders ◽  
Receptor Gene ◽  
Correct Diagnosis ◽  
Gene Mutations ◽  
Calcium Excretion ◽  
Coding Region ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Exon 4

ObjectiveGenetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis and study of theCASRgene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novelCASRgene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CASR function.Patients and methodsA 16-year-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia was originally excluded. The second patient was a 54-year-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of theCASRgene was sequenced in both probands and their available first-degree relatives.ResultsThe first patient had a novel heterozygous inactivatingCASRmutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activatingCASRmutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive.ConclusionsWe reported two novel heterozygous mutations of theCASRgene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing ofCASRgene to aid correct diagnosis and to assist in clinical management.

Comparative analysis of the IGF2 and ZBED6 gene variants and haplotypes reveals significant effect of growth traits in cattle

Genome ◽  
2013 ◽  
Vol 56 (6) ◽  
pp. 327-334 ◽  
Author(s):  
Yong-Zhen Huang ◽  
Zhao-Yang Zhan ◽  
Yu-Jia Sun ◽  
Jing Wang ◽  
Ming-Xun Li ◽  
...  
Keyword(s):  
Body Mass ◽  
Growth Traits ◽  
Muscle Growth ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Mutant Type ◽  
Cattle Breeds ◽  
Proliferation And Differentiation ◽  
Different Ages

Muscle growth is a complex phenomenon regulated by many factors, whereby net growth results from the combined action of synthesis and turnover. Insulin-like growth factor 2 (IGF2) is a fetal growth and differentiation factor that plays an important role in muscle growth and in myoblast proliferation and differentiation; Zinc finger, BED-type containing 6 (ZBED6) is a novel transcription factor that was identified and shown to act as a repressor of IGF2 transcription in skeletal muscle. In this study, a total of seven single nucleotide polymorphisms (SNPs) were identified, four SNPs in intron 8 of IGF2 and one promoter SNP and two missense mutations in the coding region of ZBED6, two of which were in complete linkage disequilibrium (LD) in the bovine IGF2. The 58 haplotypes were inferred in 1522 individuals representing four purebred cattle breeds from China. The seven SNPs, 79 and 66 combined diplotypes were revealed for association with body mass in Nanyang and Jiaxian cattle populations at five different ages (P < 0.05 or 0.01). The mutant-type variants and haplotype 58 (likely in LD with the beneficial quantitative trait nucleotide allele) was superior for body mass; the heterozygote diplotype of the most common haplotypes 58 was associated with higher body mass compared to either heterozygote or homozygote. The statistical analyses indicated that the mutant-type variants and haplotypes are significantly associated with body mass in study cattle populations at different ages. These data demonstrate that variants and haplotypes are associated with growth traits, and these results may provide important biological insights into the phenotypic differentiation that is associated with adaptation and specialization of cattle breeds.

Relationship between Factor VIII Mutation Type and Inhibitor Development in a Cohort of Previously Untreated Patients Treated with Recombinant Factor VIII (Recombinate™)

2000 ◽  
Vol 83 (06) ◽  
pp. 844-848 ◽  
Author(s):  
Ian Williams ◽  
Gordon Bray ◽  
Ian Peake ◽  
Anne Goodeve ◽  
Keyword(s):  
Factor Viii ◽  
Point Mutations ◽  
Gene Mutations ◽  
Protein Translation ◽  
Recombinant Factor Viii ◽  
Missense Mutations ◽  
Coding Region ◽  
Gene Deletions ◽  
Reading Frame ◽  
Mutation Type

SummaryA cohort of 79 previously untreated patients (PUPs) with moderatesevere haemophilia A (baseline Factor VIII <2%) were enrolled in a study to evaluate the safety, efficacy and immunogenicity of recombinant factor VIII (r-FVIII, Recombinate™). Blood samples were obtained retrospectively from a total 55 PUPs who were investigated for the spectrum of FVIII gene mutations responsible for their haemophilia. FVIII gene inversion mutations were found in 27 (49%) patients. Two patients had partial gene deletions. The remaining 26 patients were then screened for mutations in the FVIII gene coding region using conformation sensitive gel electrophoresis. Point mutations were identified in 22 (85%) of the patients and 14 of these mutations were novel. Study subjects were monitored for the development of FVIII inhibitors throughout the study. A total of 23 of the 73 evaluable subjects (including one subject with a low inhibitor titer at baseline) demonstrated an inhibitor on one or more occasions; 11 (15%) were persistent. Inhibitors were detected in patients with partial gene deletions and inversions and in three of eight patients with missense mutations. No inhibitors were found in 11 patients with small insertions or deletions resulting in an alteration of the protein translation reading frame (frameshift mutations). The results corroborate the observation that mutation type is an important determinant of the propensity to develop inhibitory anti-FVIII antibody.

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