scholarly journals Evidence of Amino Acid Diversity–Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ

2007 ◽  
Vol 81 (1) ◽  
pp. 44-52 ◽  
Author(s):  
David Hamm ◽  
Brian S. Mautz ◽  
Mariana F. Wolfner ◽  
Charles F. Aquadro ◽  
Willie J. Swanson
Keyword(s):  
Amino Acid ◽  
Receptor Gene ◽  
Amino Acid Diversity ◽  
Sperm Receptor

scholarly journals Tailored amino acid diversity for the evolution of antibody affinity

mAbs ◽  
2012 ◽  
Vol 4 (6) ◽  
pp. 664-672 ◽  
Author(s):  
Andrea González-Muñoz ◽  
Evert Bokma ◽  
Desmond O’Shea ◽  
Kevin Minton ◽  
Martin Strain ◽  
...  
Keyword(s):  
Amino Acid ◽  
Antibody Affinity ◽  
Amino Acid Diversity

scholarly journals Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome

2020 ◽  
Author(s):  
Farideh Zafari Zangeneh ◽  
Maryam Sarmast Shoushtari ◽  
Sahar Shojaee ◽  
Elahe Aboutorabi
Keyword(s):  
Amino Acid ◽  
Amino Acid Sequence ◽  
Adrenergic Receptor ◽  
Polycystic Ovarian Syndrome ◽  
Receptor Gene ◽  
Gene Bank ◽  
Control Group ◽  
Trp64arg Polymorphism ◽  
Ovarian Syndrome ◽  
Adrenergic Receptor Gene

Background: Polycystic ovary syndrome (PCOS) is a multifactorial and heterogeneous disease that has a potent inheritable component based on familial clustering. Despite many studies in the genetic field of PCOS, the genes that are involved in the causes of this syndrome have not been thoroughly investigated. Objective: The purpose of this study was to establish the occurrence of the Trp64Arg polymorphism of beta3 adrenergic receptor in non-obese women with PCOS. Materials and Methods: This cross-sectional study was performed on 100 women with PCOS and normal women as the control group in Imam Khomeini Hospital of Tehran in 2016-2017. Peripheral blood sample (2 cc) was obtained from two groups for genomic DNA based on the gene bank. Polymorphisms were genotyped by of using ADRB3 Trp64Arg. Then the DNA was extracted by genomic kiagen kit. The primer was analyzed for PCR based on gene bank by using Primer3 software and then confirmed by primer Blast tool at NCBI site to conformity to the beta-3 adrenergic receptor gene. The protein changes were assessment by the Clastal W software. Results: The sequence analysis presented in NCBI, transcript variant 1, with the code NM_000025.2, shows changes in the amino acid sequence of exon 1 in women with PCOS. Polymorphism in the codon 64 encoding the amino acid tryptophan (W) occurred in the nucleotide c.T190C, which changed the nucleotide T to C and then the amino acid sequence of the tryptophan was altered to arginine pW64R. Conclusion: T-C polymorphism is evident in the codon 64 of the adrenergic β3 receptor in patients with PCOS. Therefore, Beta3 adrenergic receptor gene polymorphism (Thr164Ile) associates with this syndrome in nonobese women. Key words: Codon 64, Beta-3 adrenergic receptor, Polymorphism, Polycystic ovarian syndrome.

scholarly journals Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

2006 ◽  
Vol 395 (2) ◽  
pp. 259-266 ◽  
Author(s):  
Sylvie Ducreux ◽  
Francesco Zorzato ◽  
Ana Ferreiro ◽  
Heinz Jungbluth ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Amino Acid ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Receptor Activation ◽  
Central Core ◽  
Central Core Disease ◽  
Amino Acid Substitutions ◽  
Time Data ◽  
Minicore Disease

More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease. Studies on the functional effects of pathogenic dominant mutations have shown that they mostly affect intracellular Ca2+ homoeostasis, either by rendering the channel hypersensitive to activation (malignant hyperthermia) or by altering the amount of Ca2+ released subsequent to physiological or pharmacological activation (central core disease). In the present paper, we show, for the first time, data on the functional effect of two recently identified recessive ryanodine receptor 1 amino acid substitutions, P3527S and V4849I, as well as that of R999H, another substitution that was identified in two siblings that were affected by multi-minicore disease. We studied the intracellular Ca2+ homoeostasis of EBV (Epstein–Barr virus)-transformed lymphoblastoid cells from the affected patients, their healthy relatives and control individuals. Our results show that the P3527S substitution in the homozygous state affected the amount of Ca2+ released after pharmacological activation with 4-chloro-m-cresol and caffeine, but did not affect the size of the thapsigargin-sensitive Ca2+ stores. The other substitutions had no effect on either the size of the intracellular Ca2+ stores, or on the amount of Ca2+ released after ryanodine receptor activation; however, both the P3527S and V4849I substitutions had a small but significant effect on the resting Ca2+ concentration.

scholarly journals Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

2013 ◽  
Vol 168 (2) ◽  
pp. K27-K34 ◽  
Author(s):  
Anne-Sophie Lia-Baldini ◽  
Corinne Magdelaine ◽  
Angélique Nizou ◽  
Coraline Airault ◽  
Jean-Pierre Salles ◽  
...  
Keyword(s):  
Amino Acid ◽  
Transmembrane Domain ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Amino Acid Position ◽  
Receptor Activity ◽  
Site Directed Mutagenesis ◽  
Missense Mutations ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing

ObjectiveGain-of-function mutations of the calcium-sensing receptor (CASR) gene have been identified in patients with sporadic or familial autosomal dominant hypocalcemia (ADH). Inactivating mutations of the CASR gene cause familial hypocalciuric hypercalcemia (FHH). Here, we report two novel CASR mutations affecting the same amino acid (p.N802); one causes ADH and the other atypical FHH.Patients and methodsThe first patient, an 11-year-old girl suffering from hypocalcemia, developed nephrocalcinosis when she was only 5 years old. The second patient is a 30-year-old woman who presented with mild hypercalcemia. PCR amplification of CASR coding exons and direct sequencing of PCR products were used to identify mutations. Site-directed mutagenesis was used to generate mutated CASR cDNAs in an expression plasmid. Using the MAPK assay system and transient transfection of Cos-7 cells with wild-type (WT) and mutated CASR, we studied the responses of these mutated receptors to extracellular Ca2+ and to the negative allosteric CASR modulator, NPS2143.ResultsTwo heterozygous missense mutations (p.N802I and p.N802S) affecting a residue in the sixth transmembrane domain of CASR were identified. In functional tests, the response of the p.N802S mutant to calcium was typical of an inactivating mutation. However, the p.N802I mutant had 70% of the maximally stimulated WT receptor activity even in the absence of extracellular calcium. This constitutive activity was only partially inhibited by the inhibitor, NPS2143.ConclusionsThe asparagine at amino acid position 802 appears to be essential for the activity of the CASR protein and is implicated in the mechanism of CASR signaling.

scholarly journals A Dominant Conformational Role for Amino Acid Diversity in Minimalist Protein–Protein Interfaces

2008 ◽  
Vol 381 (2) ◽  
pp. 407-418 ◽  
Author(s):  
Ryan N. Gilbreth ◽  
Kaori Esaki ◽  
Akiko Koide ◽  
Sachdev S. Sidhu ◽  
Shohei Koide
Keyword(s):  
Amino Acid ◽  
Protein Interfaces ◽  
Amino Acid Diversity

scholarly journals Variations in the coding of melatonin receptor gene MTNR1A of Iraqi sheep breed

2017 ◽  
Vol 41 (1) ◽  
pp. 98-103
Author(s):  
Rahawy M. A.
Keyword(s):  
Amino Acid ◽  
Breeding Season ◽  
Receptor Gene ◽  
Gene Bank ◽  
Receptor Type ◽  
Silent Mutation ◽  
Melatonin Receptor ◽  
Exon 2 ◽  
Breeding Station ◽  
Pcr Product

     The aim of the study was found variation of melatonin receptor gene by sequence analysis, investigation in association between MTNR1A polymorphisms with any variation in allele’s frequency of the mutations C606T and G612A of the MTNR1A gene in the Iraqi local sheep lambing out of season. Blood samples were randomly collected from 60 ewes from Agriculture Research-Ruminant Researches Station Breeding Station, Baghdad. Genomic DNA was isolated using a Geneius TM Micro gDNA Extraction Kit. A large fragment of exon 2 of MTNR1A gene was amplified by PCR using specific primer pairs. The PCR product was sequencing 20 samples of MTNR1A gene was performed by National Instrumentation Center for Environmental Management (nicem). The result recorded that sequencing of Ovisaries breed local Iraqi ewes lambing in breeding season genotype rr appeared 100%compatibility with standard, Sequence ID: gb|HQ658147.1|, and have number score (1354) bits there was no any polymorphism in melatonin receptor type 1A (MTNR1A) gene, from 76-808 number of nucleotide from gene of Gene Bank. Sequence product from Iraqi ewes lambing out breeding season have genotype RR appeared 92% compatibility with and Sequence ID: gb|HQ658147.1|, and have number score (896) bits There was high polymorphism in melatonin receptor type 1A gene, from 130-710 number of nucleotide from gene of Gene Bank. The genotype RR that were fifteen only which are identical (G120T, G502C, T512G, T525G, T546A,C567T, T579A, T582C, C605G, A611T, A614T, C620T, G624T, C629T and T642A) that change of amino acid specialty C605G that change Proline to Alanine while four silent mutation (G328C, G499C, C604T and C609A) without amino acid change in spring (out-of-season) breeding in Iraqi local sheep.

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