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histone variants,spermatogenesis

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https://www.readbyqxmd.com/read/29062794/computational-analysis-of-high-risk-missense-variant-in-human-uty-gene-a-candidate-gene-of-azfa-sub-region
#1
Mili Nailwal, Jenabhai Bhathibhai Chauhan
BACKGROUND: The human Ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY) gene encodes histone demethylase involved in protein-protein interactions. UTY protein evidence at protein level predicted intracellular and secreted protein. UTY is also involved in spermatogenesis process. METHODS: The high-risk non-synonymous single nucleotide polymorphism in the coding region of the UTY gene was screened by SNP database and identified missense variants were subjected to computational analysis to understand the effect on protein function, stability and structure by SIFT, PolyPhen 2, PANTHER, PROVEAN, I-Mutant 2, iPTREE-STAB, ConSurf, ModPred, SPARKS-X, QMEAN, PROCHECK, project HOPE and STRING...
July 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/28955761/global-mapping-of-post-translational-modifications-on-histone-h3-variants-in-mouse-testes
#2
Ho-Geun Kwak, Takehiro Suzuki, Naoshi Dohmae
Mass spectrometry (MS)-based characterization is important in proteomic research for verification of structural features and functional understanding of gene expression. Post-translational modifications (PTMs) such as methylation and acetylation have been reported to be associated with chromatin remodeling during spermatogenesis. Although antibody- and MS-based approaches have been applied for characterization of PTMs on H3 variants during spermatogenesis, variant-specific PTMs are still underexplored. We identified several lysine modifications in H3 variants, including testis-specific histone H3 (H3t), through their successful separation with MS-based strategy, based on differences in masses, retention times, and presence of immonium ions...
September 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28803373/th2a-is-phosphorylated-at-meiotic-centromere-by-haspin
#3
Masashi Hada, Jihye Kim, Erina Inoue, Yuko Fukuda, Hiromitsu Tanaka, Yoshinori Watanabe, Yuki Okada
Histone phosphorylation is sometimes associated with mitosis and meiosis. We have recently identified a phosphorylation of the 127th threonine on TH2A (pTH2A), a germ cell-specific H2A variant, in condensed spermatids and mitotic early preimplantation embryos of mice. Here, we further report the existence of pTH2A at the centromeres in metaphase I spermatocytes and oocytes. Moreover, we identified Haspin, a known kinase for the 3rd threonine on H3, is responsible for pTH2A in vivo. In contrast to the severe meiotic defect in oocytes treated with a Haspin inhibitor, pTH2A-deficient mice, in which the 127th threonine was replaced by alanine, maintained the fertility and exhibited no obvious defect in both oocytes and spermatogenesis...
August 12, 2017: Chromosoma
https://www.readbyqxmd.com/read/28366643/histone-variant-h2a-l-2-guides-transition-protein-dependent-protamine-assembly-in-male-germ-cells
#4
Sophie Barral, Yuichi Morozumi, Hiroki Tanaka, Emilie Montellier, Jérôme Govin, Maud de Dieuleveult, Guillaume Charbonnier, Yohann Couté, Denis Puthier, Thierry Buchou, Fayçal Boussouar, Takashi Urahama, François Fenaille, Sandrine Curtet, Patrick Héry, Nicolas Fernandez-Nunez, Hitoshi Shiota, Matthieu Gérard, Sophie Rousseaux, Hitoshi Kurumizaka, Saadi Khochbin
Histone replacement by transition proteins (TPs) and protamines (Prms) constitutes an essential step for the successful production of functional male gametes, yet nothing is known on the underlying functional interplay between histones, TPs, and Prms. Here, by studying spermatogenesis in the absence of a spermatid-specific histone variant, H2A.L.2, we discover a fundamental mechanism involved in the transformation of nucleosomes into nucleoprotamines. H2A.L.2 is synthesized at the same time as TPs and enables their loading onto the nucleosomes...
April 6, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28188343/mll5-kmt2e-structure-function-and-clinical-relevance
#5
REVIEW
Xiaoming Zhang, Wisna Novera, Yan Zhang, Lih-Wen Deng
The mixed lineage leukemia (MLL) family of genes, also known as the lysine N-methyltransferase 2 (KMT2) family, are homologous to the evolutionarily conserved trithorax group that plays critical roles in the regulation of homeotic gene (HOX) expression and embryonic development. MLL5, assigned as KMT2E on the basis of its SET domain homology, was initially categorized under MLL (KMT2) family together with other six SET methyltransferase domain proteins (KMT2A-2D and 2F-2G). However, emerging evidence suggests that MLL5 is distinct from the other MLL (KMT2) family members, and the protein it encodes appears to lack intrinsic histone methyltransferase (HMT) activity towards histone substrates...
July 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28137559/identification-of-posttranslational-modifications-of-endogenous-chromatin-proteins-from-testicular-cells-by-mass-spectrometry
#6
N Gupta, S Pentakota, L N Mishra, R Jones, M R S Rao
Chromatin architecture in mammalian spermatogenesis undergoes extensive structural and functional reorganization during which several testis-specific histone variants and other chromatin proteins are expressed in a stage-dependent manner. The most dramatic change in chromatin composition is observed during spermiogenesis where nucleosomal chromatin is transformed into nucleoprotamine fiber. Role of posttranslational modification (PTM) of somatic canonical histones and histone variants is well documented and effect several chromatin-templated events...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28099840/testis-specific-histone-variant-h3t-gene-is-essential-for-entry-into-spermatogenesis
#7
Jun Ueda, Akihito Harada, Takashi Urahama, Shinichi Machida, Kazumitsu Maehara, Masashi Hada, Yoshinori Makino, Jumpei Nogami, Naoki Horikoshi, Akihisa Osakabe, Hiroyuki Taguchi, Hiroki Tanaka, Hiroaki Tachiwana, Tatsuma Yao, Minami Yamada, Takashi Iwamoto, Ayako Isotani, Masahito Ikawa, Taro Tachibana, Yuki Okada, Hiroshi Kimura, Yasuyuki Ohkawa, Hitoshi Kurumizaka, Kazuo Yamagata
Cellular differentiation is associated with dynamic chromatin remodeling in establishing a cell-type-specific epigenomic landscape. Here, we find that mouse testis-specific and replication-dependent histone H3 variant H3t is essential for very early stages of spermatogenesis. H3t gene deficiency leads to azoospermia because of the loss of haploid germ cells. When differentiating spermatogonia emerge in normal spermatogenesis, H3t appears and replaces the canonical H3 proteins. Structural and biochemical analyses reveal that H3t-containing nucleosomes are more flexible than the canonical nucleosomes...
January 17, 2017: Cell Reports
https://www.readbyqxmd.com/read/27992841/structural-analyses-of-the-nucleosome-complexes-with-human-testis-specific-histone-variants-hth2a-and-hth2b
#8
Sivaraman Padavattan, Viswanathan Thiruselvam, Toshie Shinagawa, Kazuya Hasegawa, Takashi Kumasaka, Shunsuke Ishii, Thirumananseri Kumarevel
Th2a and Th2b are the testis-specific histone variants highly expressed during spermatogenesis. Approximately 4% of the genome is retained in nucleosomes in mature human sperm, which is enriched at loci of developmental importance. Our recent studies revealed that the mouse histone variant homologs TH2a and TH2b are involved in reprogramming. In the present work, we report three nucleosome structures (NCPs) with human testis-specific histone variants hTh2a and hTh2b, [hGcH (hTh2a-hTh2b-H3-H4), hGcHV1 (hTh2a-H2b-H3-H4) and hGcHV2 (H2a-hTh2b-H3-H4)] and a 146-base pair (bp) duplex DNA fragment at ~3...
February 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/27643486/characterization-of-post-translational-modifications-on-lysine-9-of-histone-h3-variants-in-mouse-testis-using-matrix-assisted-laser-desorption-ionization-in-source-decay
#9
Ho-Geun Kwak, Naoshi Dohmae
RATIONALE: Post-translational modifications (PTMs) of histones result in changes to transcriptional activities and chromatin remodeling. Lysine 9 of histone H3 (H3K9) is subject to PTMs, such as methylation and acetylation, which influence histone activity during spermatogenesis. Characterization strategies for studying PTMs on H3K9 have been developed to provide epigenetic and proteomic information. Proteomic analysis has been used to limited success to study PTMs on H3K9; however, a comprehensive analytical approach is required to elucidate global patterns of PTMs of H3 variants during spermatogenesis...
September 19, 2016: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/27602058/the-cnidarian-hydractinia-echinata-employs-canonical-and-highly-adapted-histones-to-pack-its-dna
#10
Anna Török, Philipp H Schiffer, Christine E Schnitzler, Kris Ford, James C Mullikin, Andreas D Baxevanis, Antony Bacic, Uri Frank, Sebastian G Gornik
BACKGROUND: Cnidarians are a group of early branching animals including corals, jellyfish and hydroids that are renowned for their high regenerative ability, growth plasticity and longevity. Because cnidarian genomes are conventional in terms of protein-coding genes, their remarkable features are likely a consequence of epigenetic regulation. To facilitate epigenetics research in cnidarians, we analysed the histone complement of the cnidarian model organism Hydractinia echinata using phylogenomics, proteomics, transcriptomics and mRNA in situ hybridisations...
2016: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/27545216/proteomic-characterization-of-histone-variants-in-the-mouse-testis-by-mass-spectrometry-based-top-down-analysis
#11
Ho-Geun Kwak, Naoshi Dohmae
Various histones, including testis-specific histones, exist during spermatogenesis and some of them have been reported to play a key role in chromatin remodeling. Mass spectrometry (MS)-based characterization has become the important step to understand histone structures. Although individual histones or partial histone variant groups have been characterized, the comprehensive analysis of histone variants has not yet been conducted in the mouse testis. Here, we present the comprehensive separation and characterization of histone variants from mouse testes by a top-down approach using MS...
November 15, 2016: Bioscience Trends
https://www.readbyqxmd.com/read/27069802/a-variant-of-runx2-that-differs-from-the-bone-isoform-in-its-splicing-is-expressed-in-spermatogenic-cells
#12
Satoru Kanto, Marcin Grynberg, Yoshiyuki Kaneko, Jun Fujita, Masanobu Satake
Background. Members of the Runx gene family encode transcription factors that bind to DNA in a sequence-specific manner. Among the three Runx proteins, Runx2 comprises 607 amino acid (aa) residues, is expressed in bone, and plays crucial roles in osteoblast differentiation and bone development. We examined whether the Runx2 gene is also expressed in testes. Methods. Murine testes from 1-, 2-, 3-, 4-, and 10-week-old male mice of the C57BL/6J strain and W∕W (v) strain were used throughout the study. Northern Blot Analyses were performed using extracts form the murine testes...
2016: PeerJ
https://www.readbyqxmd.com/read/27018843/linker-histone-variant-h1t-targets-rdna-repeats
#13
Ruiko Tani, Koji Hayakawa, Satoshi Tanaka, Kunio Shiota
H1T is a linker histone H1 variant that is highly expressed at the primary spermatocyte stage through to the early spermatid stage of spermatogenesis. While the functions of the somatic types of H1 have been extensively investigated, the intracellular role of H1T is unclear. H1 variants specifically expressed in germ cells show low amino acid sequence homology to somatic H1s, which suggests that the functions or target loci of germ cell-specific H1T differ from those of somatic H1s. Here, we describe the target loci and function of H1T...
April 2, 2016: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/26779285/histone-h3-5-forms-an-unstable-nucleosome-and-accumulates-around-transcription-start-sites-in-human-testis
#14
Takashi Urahama, Akihito Harada, Kazumitsu Maehara, Naoki Horikoshi, Koichi Sato, Yuko Sato, Koji Shiraishi, Norihiro Sugino, Akihisa Osakabe, Hiroaki Tachiwana, Wataru Kagawa, Hiroshi Kimura, Yasuyuki Ohkawa, Hitoshi Kurumizaka
BACKGROUND: Human histone H3.5 is a non-allelic H3 variant evolutionally derived from H3.3. The H3.5 mRNA is highly expressed in human testis. However, the function of H3.5 has remained poorly understood. RESULTS: We found that the H3.5 nucleosome is less stable than the H3.3 nucleosome. The crystal structure of the H3.5 nucleosome showed that the H3.5-specific Leu103 residue, which corresponds to the H3.3 Phe104 residue, reduces the hydrophobic interaction with histone H4...
2016: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/26652719/lack-of-sex-chromosome-specific-meiotic-silencing-in-platypus-reveals-origin-of-msci-in-therian-mammals
#15
Tasman J Daish, Aaron E Casey, Frank Grutzner
BACKGROUND: In therian mammals heteromorphic sex chromosomes are subject to meiotic sex chromosome inactivation (MSCI) during meiotic prophase I while the autosomes maintain transcriptional activity. The evolution of this sex chromosome silencing is thought to result in retroposition of genes required in spermatogenesis from the sex chromosomes to autosomes. In birds sex chromosome specific silencing appears to be absent and global transcriptional reductions occur through pachytene and sex chromosome-derived autosomal retrogenes are lacking...
2015: BMC Biology
https://www.readbyqxmd.com/read/26328105/the-role-of-epigenetics-in-spermatogenesis
#16
REVIEW
Sezgin Güneş, Tuba Kulaç
Male germ cells have a unique morphology and function to facilitate fertilization. Sperm deoxyribonucleic acid (DNA) is highly condensed to protect the paternal genome during transfer from male to oocyte. Sperm cells undergo extensive epigenetic modifications during differentiation to become a mature spermatozoon. Epigenetic modifications, including DNA methylation, histone modifications, and chromatin remodeling are substantial regulators of spermatogenesis. DNA hypermethylation is associated with gene silencing...
September 2013: Turkish Journal of Urology
https://www.readbyqxmd.com/read/26246879/association-of-two-polymorphisms-in-h2b-w-gene-with-azoospermia-and-severe-oligozoospermia-in-an-iranian-population
#17
Haleh Haji Ebrahim Zargar, Anahita Mohseni Meybodi, Marjan Sabbaghian, Maryam Shahhoseini, Ummulbanin Asadpor, Mohammad Ali Sadighi Gilani, Mohammad Chehrazi, Mansoureh Farhangniya, Seyed Abolhassan Shahzadeh Fazeli
BACKGROUND: During spermatogenesis, the H2B family, member W (H2B.W) gene, en- codes a testis specific histone that is co-localized with telomeric sequences and has the potential role to mediate the sperm-specific chromatin remodeling. Previously H2B.W genetic variants were reported to be involved in susceptibility to spermatogenesis im- pairment. In the present study, two single nucleotide polymorphisms (SNPs) in 5΄UTR and exon 1 of H2B.W gene were examined to investigate possible association of these polymorphisms with male infertility in Iranian population...
July 2015: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/25904013/tnp1-functional-snps-in-bta-mir-532-and-bta-mir-204-target-sites-are-associated-with-semen-quality-traits-in-chinese-holstein-bulls
#18
Shuai Zhang, Yan Zhang, Chunhong Yang, Wei Zhang, Zhihua Ju, Xiuge Wang, Qiang Jiang, Yan Sun, Jinming Huang, Jifeng Zhong, Changfa Wang
Transition nuclear proteins (TNPs), major proteins found in the chromatin of condensing spermatids, have been implicated in spermatogenesis and male fertility. In this study, DNA samples were collected from 404 Chinese Holstein bulls and sequenced to identify genetic variants in the 3'-untranslated region (UTR) of TNP1 and to investigate genetic variations in the TNP1 gene and their common haplotypes. This study was also conducted to determine whether these variations affect bovine semen quality traits and expression levels by PCR-restriction fragment length polymorphism, bioinformatics analyses, quantitative real-time PCR (qPCR), and fluorescence assay...
June 2015: Biology of Reproduction
https://www.readbyqxmd.com/read/25742800/disruption-of-th2a-and-th2b-genes-causes-defects-in-spermatogenesis
#19
Toshie Shinagawa, Linh My Huynh, Tsuyoshi Takagi, Daisuke Tsukamoto, Chinatsu Tomaru, Ho-Geun Kwak, Naoshi Dohmae, Junko Noguchi, Shunsuke Ishii
The variant histones TH2A and TH2B are abundant in the testis, but their roles in spermatogenesis remain elusive. Here, we show that male mutant mice lacking both Th2a and Th2b genes were sterile, with few sperm in the epididymis. In the mutant testis, the lack of TH2B was compensated for by overexpression of H2B, whereas overexpression of H2A was not observed, indicating a decrease in the total histone level. Mutant mice exhibited two defects: incomplete release of cohesin at interkinesis after meiosis I and histone replacement during spermiogenesis...
April 1, 2015: Development
https://www.readbyqxmd.com/read/25299455/the-specification-and-global-reprogramming-of-histone-epigenetic-marks-during-gamete-formation-and-early-embryo-development-in-c-elegans
#20
Mark Samson, Margaret M Jow, Catherine C L Wong, Colin Fitzpatrick, Aaron Aslanian, Israel Saucedo, Rodrigo Estrada, Takashi Ito, Sung-kyu Robin Park, John R Yates, Diana S Chu
In addition to the DNA contributed by sperm and oocytes, embryos receive parent-specific epigenetic information that can include histone variants, histone post-translational modifications (PTMs), and DNA methylation. However, a global view of how such marks are erased or retained during gamete formation and reprogrammed after fertilization is lacking. To focus on features conveyed by histones, we conducted a large-scale proteomic identification of histone variants and PTMs in sperm and mixed-stage embryo chromatin from C...
October 2014: PLoS Genetics
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