Common null variant, Arg192Stop, in a G‐protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity

Koyano, Satoru; Emi, Mitsuru; Saito, Takafumi; Makino, Naohiko; Toriyama, Sayumi; Ishii, Miho; Kato, Takeshi; Kawata, Sumio

doi:10.1111/j.1872-034x.2008.00327.x

Cited by 8 publications

(5 citation statements)

References 29 publications

(52 reference statements)

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“…The design and methods of these studies have been reported elsewhere (12)(13)(14). Briefly, the study was designed to evaluate the role of lifestyle, diet, and genetic factors in the subsequent development of many common diseases.…”

Section: Study Populationmentioning

confidence: 99%

Relationship between Alcohol Consumption and Serum Adiponectin Levels: The Takahata Study—A Cross-Sectional Study of a Healthy Japanese Population

Nishise¹,

Saito²,

Makino³

et al. 2010

The Journal of Clinical Endocrinology &Amp; Metabolism

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Section: Study Populationmentioning

confidence: 99%

Relationship between Alcohol Consumption and Serum Adiponectin Levels: The Takahata Study—A Cross-Sectional Study of a Healthy Japanese Population

Nishise¹,

Saito²,

Makino³

et al. 2010

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…The OR1B1 SNP leads to truncation of the 7-transmembrane receptor domain present in OR1B1 (Figure 4C). This truncated variant of OR1B1 protein has been observed in a recent study [39] and is thought to affect metabolism of serum cholinesterase [40]. Overall, our assessment of the effect of the nsSNPs using SIFT [41] indicates that 1,460 are likely damaging (Additional file 1: Table S3).…”

Section: Resultsmentioning

confidence: 71%

Sequencing and analysis of a South Asian-Indian personal genome

et al. 2012

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BackgroundWith over 1.3 billion people, India is estimated to contain three times more genetic diversity than does Europe. Next-generation sequencing technologies have facilitated the understanding of diversity by enabling whole genome sequencing at greater speed and lower cost. While genomes from people of European and Asian descent have been sequenced, only recently has a single male genome from the Indian subcontinent been published at sufficient depth and coverage. In this study we have sequenced and analyzed the genome of a South Asian Indian female (SAIF) from the Indian state of Kerala.ResultsWe identified over 3.4 million SNPs in this genome including over 89,873 private variations. Comparison of the SAIF genome with several published personal genomes revealed that this individual shared ~50% of the SNPs with each of these genomes. Analysis of the SAIF mitochondrial genome showed that it was closely related to the U1 haplogroup which has been previously observed in Kerala. We assessed the SAIF genome for SNPs with health and disease consequences and found that the individual was at a higher risk for multiple sclerosis and a few other diseases. In analyzing SNPs that modulate drug response, we found a variation that predicts a favorable response to metformin, a drug used to treat diabetes. SNPs predictive of adverse reaction to warfarin indicated that the SAIF individual is not at risk for bleeding if treated with typical doses of warfarin. In addition, we report the presence of several additional SNPs of medical relevance.ConclusionsThis is the first study to report the complete whole genome sequence of a female from the state of Kerala in India. The availability of this complete genome and variants will further aid studies aimed at understanding genetic diversity, identifying clinically relevant changes and assessing disease burden in the Indian population.

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“…SIX homeobox 1 ( SIX1 ) gene was reported to be involved in embryogenesis, cellular specification, and postnatal gonad development in mammals. OR2BI is a G-protein-coupled receptor and involved in liver cell metabolism ( 49 ). Orthopedia homeobox (OTP ) was used as a potential marker for lung carcinoids in humans ( 50 ).…”

Section: Discussionmentioning

confidence: 99%

Sperm Transcripts Associated With Odorant Binding and Olfactory Transduction Pathways Are Altered in Breeding Bulls Producing Poor-Quality Semen

et al. 2022

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Spermatozoa carries a reservoir of mRNAs regulating sperm functions and fertilizing potential. Although it is well recognized that a considerable proportion of high genetic merit breeding bulls produce poor-quality semen, the transcriptomic alterations in spermatozoa from such bulls are not understood. In the present study, comparative high-throughput transcriptomic profiling of spermatozoa from good and poor-quality semen-producing bulls was carried out to identify the transcripts associated with semen quality. Using next-generation sequencing (NGS), we identified 11,632 transcripts in Holstein Friesian bull spermatozoa; after total hit normalization, a total of 544 transcripts were detected, of which 185 transcripts were common to both good and poor-quality semen, while 181 sperm transcripts were unique to good quality semen, and 178 transcripts were unique to poor-quality semen. Among the co-expressed transcripts, 31 were upregulated, while 108 were downregulated, and 46 were neutrally expressed in poor-quality semen. Bioinformatics analysis revealed that the dysregulated transcripts were predominantly involved in molecular function, such as olfactory receptor activity and odor binding, and in biological process, such as detection of chemical stimulus involved in sensory perception, sensory perception of smell, signal transduction, and signal synaptic transmission. Since a majority of the dysregulated transcripts were involved in the olfactory pathway (85% of enriched dysregulated genes were involved in this pathway), the expression of selected five transcripts associated with this pathway (OR2T11, OR10S1, ORIL3, OR5M11, and PRRX1) were validated using real-time qPCR, and it was found that their transcriptional abundance followed the same trend as observed in NGS; the sperm transcriptional abundance of OR2T11 and OR10S1 differed significantly (p < 0.05) between good and poor-quality semen. It is concluded that poor-quality semen showed altered expression of transcripts associated with olfactory receptors and pathways indicating the relationship between olfactory pathway and semen quality in bulls.

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Common null variant, Arg192Stop, in a G‐protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity

Abstract: These results suggested that the null-allele of OR1B1 might affect metabolism of serum cholinesterase in carriers of this nSNP.

Cited by 8 publications

References 29 publications

Relationship between Alcohol Consumption and Serum Adiponectin Levels: The Takahata Study—A Cross-Sectional Study of a Healthy Japanese Population

Relationship between Alcohol Consumption and Serum Adiponectin Levels: The Takahata Study—A Cross-Sectional Study of a Healthy Japanese Population

Sequencing and analysis of a South Asian-Indian personal genome

Sperm Transcripts Associated With Odorant Binding and Olfactory Transduction Pathways Are Altered in Breeding Bulls Producing Poor-Quality Semen

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