Dataset Information

Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.

ABSTRACT: Actins play essential roles in cellular morphogenesis. In mice, the T-actin1 and 2 genes, which encode actin-like proteins, are specifically expressed in haploid germ cells. Both T-ACTIN1/ACTLB and T-ACTIN2/ACTL7A have also been cloned and studied. The orthologous genes in humans are present on chromosome 9q31.3 as intronless genes. Defects of germ cell-specific genes can introduce infertility without somatic function impairment. We determined T-ACTIN1 and 2, specifically expressed in the testis using reverse-transcription polymerase chain reaction (RT-PCR). To examine whether genetic polymorphisms of the T-ACTIN1 and 2 genes are associated with male infertility, we screened for T-ACTIN1 and 2 polymorphisms by direct sequencing of DNA from 282 sterile and 89 fertile Japanese men. We identified five and six single nucleotide polymorphisms (SNPs) in the T-ACTIN1 and 2 regions of the sterile and fertile subjects respectively. Among these genetic polymorphisms was a novel SNP that was not in the National Center for Biotechnology Information SNP database. Although we could not determine whether these SNPs cause infertility, the prevalence of these genetic polymorphisms may be useful for analyzing polymorphisms in future largescale genetic analyses.

SUBMITTER: Tanaka H

PROVIDER: S-EPMC6642428 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.

Tanaka Hiromitsu H Miyagawa Yasushi Y Tsujimura Akira A Wada Morimasa M

International journal of fertility & sterility 20190714 3

Actins play essential roles in cellular morphogenesis. In mice, the T-actin1 and 2 genes, which encode actin-like proteins, are specifically expressed in haploid germ cells. Both T-ACTIN1/ACTLB and T-ACTIN2/ACTL7A have also been cloned and studied. The orthologous genes in humans are present on chromosome 9q31.3 as intronless genes. Defects of germ cell-specific genes can introduce infertility without somatic function impairment. We determined T-ACTIN1 and 2, specifically ex ...[more]

PMID: 31310081

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Project description:BACKGROUND:Aging process is accompanied by a chronic sub-clinical systemic inflammation. This study aimed to assess the association between hearing impairment and polymorphisms of genes encoding cytokines deeply-committed to the inflammatory response and immune homeostasis in an elderly Japanese population. Data were collected in the Longitudinal Study of Aging surveyed biennially between 1997 and 2010. The participants without any missing information at baseline were 1,957 individuals, and the gross accumulated number of 8,675 subjects (40-89 years of age) was analyzed. Two hearing impairment criteria were taken as the better ear pure-tone average (PTABE) greater than 25 dB and greater than 40 dB. We analyzed cumulative data using generalized estimating equations to investigate the effect of 9 polymorphisms, namely, tumor necrosis factor (TNF) ?, rs1800630; TNF receptor super family (TNFRSF) 1B, rs1061624; interleukin (IL)-1A, rs1800587; IL-1B, rs16944; IL-4R, rs1801275; IL-6, rs1800796; IL-10, rs1800872; IL-1 receptor-associated kinase 1 (IRAK1), rs1059702; C reactive protein (CRP), rs1130864. RESULTS:The odds ratios for the hearing impairment (PTABE >25 dB) risk under additive genetic model were significant in TNF-? rs1800630 and TNFRSF1B rs1061624, which were respectively 1.172 (confidence interval [CI]: 1.005-1.367), 1.211 (CI: 1.053-1.392) in model after adjustment for possible confounders. Using the criterion of PTABE >40 dB as disabling hearing impairment, the association remains significant in TNFRSF1B rs1061624, but not in TNF-? rs1800630. No other polymorphisms showed a significant association. CONCLUSIONS:The present population-based cohort study demonstrated that TNF-? rs1800630 and TNFRSF1B rs1061624 contributed to the incremental risk of hearing impairment in the elderly. TNF-? and TNF receptor interactions play a pivotal role in the pathogenesis of the inflammatory response, and also cause programmed cell death and cell proliferation. The present observation implied the signalling cascades of TNF were involved in ear aging.

Project description:Many lepidopteran larvae are serious agricultural pests due to their feeding activity. Digestion of the plant diet occurs mainly in the midgut and is facilitated by the peritrophic matrix (PM), an extracellular sac-like structure, which lines the midgut epithelium and creates different digestive compartments. The PM is attracting increasing attention to control lepidopteran pests by interfering with this vital function. To identify novel PM components and thus potential targets for insecticides, we performed an immunoscreening with anti-PM antibodies using an expression library representing the larval midgut transcriptome of the tobacco hornworm, Manduca sexta. We identified three cDNAs encoding valine-rich midgut proteins of M. sexta (MsVmps), which appear to be loosely associated with the PM. They are members of a lepidopteran-specific family of nine VMP genes, which are exclusively expressed in larval stages in M. sexta. Most of the MsVMP transcripts are detected in the posterior midgut, with the highest levels observed for MsVMP1. To obtain further insight into Vmp function, we expressed MsVMP1 in insect cells and purified the recombinant protein. Lectin staining and glycosidase treatment indicated that MsVmp1 is highly O-glycosylated. In line with results from qPCR, immunoblots revealed that MsVmp1 amounts are highest in feeding larvae, while MsVmp1 is undetectable in starving and molting larvae. Finally using immunocytochemistry, we demonstrated that MsVmp1 localizes to the cytosol of columnar cells, which secrete MsVmp1 into the ectoperitrophic space in feeding larvae. In starving and molting larvae, MsVmp1 is found in the gut lumen, suggesting that the PM has increased its permeability. The present study demonstrates that lepidopteran species including many agricultural pests have evolved a set of unique proteins that are not found in any other taxon and thus may reflect an important adaptation in the highly specialized lepidopteran digestive tract facing particular immune challenges.

Dataset Information

Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.

Publications

Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males.

Similar Datasets

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