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https://www.readbyqxmd.com/read/28535386/sex-differences-satellite-dna-directs-male-specific-gene-expression
#1
Patrick M Ferree
Dosage compensation in some animals involves up-regulation of genes on the male's X chromosome. A study in the fruit fly Drosophila melanogaster shows that satellite DNA, and corresponding small non-coding RNA, helps the dosage compensation machinery preferentially find X sequences.
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28535128/low-and-high-let-ionizing-radiation-induces-delayed-homologous-recombination-that-persists-for-two-weeks-before-resolving
#2
Christopher P Allen, Hirokazu Hirakawa, Nakako Izumi Nakajima, Sophia Moore, Jingyi Nie, Neelam Sharma, Mayumi Sugiura, Yuko Hoki, Ryoko Araki, Masumi Abe, Ryuichi Okayasu, Akira Fujimori, Jac A Nickoloff
Genome instability is a hallmark of cancer cells and dysregulation or defects in DNA repair pathways cause genome instability and are linked to inherited cancer predisposition syndromes. Ionizing radiation can cause immediate effects such as mutation or cell death, observed within hours or a few days after irradiation. Ionizing radiation also induces delayed effects many cell generations after irradiation. Delayed effects include hypermutation, hyper-homologous recombination, chromosome instability and reduced clonogenic survival (delayed death)...
May 23, 2017: Radiation Research
https://www.readbyqxmd.com/read/28534314/rapid-molecular-sexing-of-three-spined-sticklebacks-gasterosteus-aculeatus-l-based-on-large-y-chromosomal-insertions
#3
Theo C M Bakker, Thomas Giger, Joachim G Frommen, Carlo R Largiadèr
There is a need for rapid and reliable molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus, the supermodel species for evolutionary biology. A DNA region at the 5' end of the sex-linked microsatellite Gac4202 was sequenced for the X chromosome of six females and the Y chromosome of five males from three populations. The Y chromosome contained two large insertions, which did not recombine with the phenotype of sex in a cross of 322 individuals. Genetic variation (SNPs and indels) within the insertions was smaller than on flanking DNA sequences...
May 22, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#4
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533904/-this-is-where-it-all-started-the-pivotal-role-of-plc%C3%AE-within-the-sophisticated-process-of-mammalian-reproduction-a-systemic-review
#5
Itai Gat, Raoul Orvieto
Mammalian reproduction is one of the most complex and fascinating biological phenomenon, which aims to transfer maternal and paternal genetic material to the next generation. At the end of oogenesis and spermatogenesis, both haploid gametes contain a single set of chromosomes ready to form the zygote, the first cell of the newly developing individual. The mature oocyte and spermatozoa remain in a quiescent state, during which the oocyte is characterized by nuclear and cytoplasmic arrest, while the spermatozoa necessitates further maturation within the epididymis and female reproductive track prior to egg fertilization...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28533625/beneficial-effect-of-interventional-exercise-on-autistic-fragile-x-syndrome
#6
REVIEW
Seunghoon Lee, Jinyoung Won, Sookyoung Park, Sang-Rae Lee, Kyu-Tae Chang, Joo-Heon Kim, Yonggeun Hong
[Purpose] The purpose of the present review is to discuss recent published articles in the understanding of efficacy of interventional exercise on autistic Fragile X syndrome (FXS) with special emphasis on its significance in clinical application in patients. [Methods] This review article was identified scientifically and/or clinically relevant articles from PubMed that directly/indirectly met the inclusion criteria. [Results] Mutation of fragile X mental retardation 1 (fmr1) gene on the X chromosome is related with loss of fragile X mental retardation protein (FMRP) that affecting physiological and behavioral abnormalities...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28533481/massively-parallel-sequencing-and-genome-wide-copy-number-analysis-revealed-a-clonal-relationship-in-benign-metastasizing-leiomyoma
#7
Ren-Chin Wu, An-Shine Chao, Li-Yu Lee, Gigin Lin, Shu-Jen Chen, Yen-Jung Lu, Huei-Jean Huang, Chi-Feng Yen, Chien Min Han, Yun-Shien Lee, Tzu-Hao Wang, Angel Chao
Benign metastasizing leiomyoma (BML) is a rare disease entity typically presenting as multiple extrauterine leiomyomas associated with a uterine leiomyoma. It has been hypothesized that the extrauterine leiomyomata represent distant metastasis of the uterine leiomyoma. To date, the only molecular evidence supporting this hypothesis was derived from clonality analyses based on X-chromosome inactivation assays. Here, we sought to address this issue by examining paired specimens of synchronous pulmonary and uterine leiomyomata from three patients using targeted massively parallel sequencing and molecular inversion probe array analysis for detecting somatic mutations and copy number aberrations...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#8
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28527116/genome-editing-in-drosophila-melanogaster-from-basic-genome-engineering-to-the-multipurpose-crispr-cas9-system
#9
REVIEW
Xingjie Ren, Kristof Holsteens, Haiyi Li, Jin Sun, Yifan Zhang, Lu-Ping Liu, Qingfei Liu, Jian-Quan Ni
Nowadays, genome editing tools are indispensable for studying gene function in order to increase our knowledge of biochemical processes and disease mechanisms. The extensive availability of mutagenesis and transgenesis tools make Drosophila melanogaster an excellent model organism for geneticists. Early mutagenesis tools relied on chemical or physical methods, ethyl methane sulfonate (EMS) and X-rays respectively, to randomly alter DNA at a nucleotide or chromosomal level. Since the discovery of transposable elements and the availability of the complete fly genome, specific genome editing tools, such as P-elements, zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs), have undergone rapid development...
May 1, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28515739/patterns-of-inter-chromosomal-gene-conversion-on-the-male-specific-region-of-the-human-y-chromosome
#10
REVIEW
Beniamino Trombetta, Eugenia D'Atanasio, Fulvio Cruciani
The male-specific region of the human Y chromosome (MSY) is characterized by the lack of meiotic recombination and it has long been considered an evolutionary independent region of the human genome. In recent years, however, the idea that human MSY did not have an independent evolutionary history begun to emerge with the discovery that inter-chromosomal gene conversion (ICGC) can modulate the genetic diversity of some portions of this genomic region. Despite the study of the dynamics of this molecular mechanism in humans is still in its infancy, some peculiar features and consequences of it can be summarized...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28514774/demonstration-of-5-methylcytosine-rich-dna-sequences-in-chiroptera
#11
Michael Schmid, Claus Steinlein, Christian Lomb, Marianne Volleth
5-Methylcytosine-rich heterochromatic regions were demonstrated in metaphase chromosomes of 5 species of Chiroptera by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 4 genera and 2 families and are characterized by divergent karyotypes. One species (Glauconycteris beatrix) has an extremely low diploid chromosome number of 2n = 22 with only meta- to submetacentric elements and remarkably large amounts of constitutive heterochromatin located in the centromeric and pericentromeric regions of all chromosome pairs...
May 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28513774/hippocampal-overexpression-of-down-syndrome-cell-adhesion-molecule-in-amyloid-precursor-protein-transgenic-mice
#12
Y L Jia, Z X Fu, B H Zhang, Y J Jia
Down syndrome cell adhesion molecule (DSCAM) is located within the Down syndrome critical region of chromosome 21. DSCAM is a broadly expressed neurodevelopmental protein involved in synaptogenesis, neurite outgrowth, and axon guidance. We previously demonstrated DSCAM overexpression in the cortex of amyloid precursor protein (APP) transgenic mice, suggesting possible regulatory interactions between APP and DSCAM. APP mice exhibit deficits in hippocampus-dependent learning and memory. In this preliminary study, we examined age-related changes in DSCAM expression within the hippocampus in 16 APP transgenic mice (1, 3, 6 and 12 months old)...
May 15, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28512193/dna-replication-timing-during-development-anticipates-transcriptional-programs-and-parallels-enhancer-activation
#13
Joseph C Siefert, Constantin Georgescu, Jonathan D Wren, Amnon Koren, Christopher L Sansam
In dividing cells, DNA replication occurs in a precise order, but many questions remain regarding the mechanisms of replication timing establishment and regulation. We now have generated genome-wide, high-resolution replication timing maps throughout zebrafish development. Unexpectedly, in the rapid cell cycles preceding the midblastula transition, a defined timing program was present that predicted the initial wave of zygotic transcription. Replication timing was thereafter progressively and continuously remodeled across the majority of the genome, and epigenetic changes involved in enhancer activation frequently paralleled developmental changes in replication timing...
May 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28512187/neutral-competition-for-drosophila-follicle-and-cyst-stem-cell-niches-requires-vesicle-trafficking-genes
#14
Matthew S Cook, Coralie Cazin, Marc Amoyel, Shinya Yamamoto, Erika Bach, Todd Nystul
The process of selecting for cellular fitness through competition plays a critical role in both development and disease. The germarium, a structure at the tip of the ovariole of a Drosophila ovary, contains two follicle stem cells (FSCs) that undergo neutral competition for the stem cell niche. Using the FSCs as a model, we performed a genetic screen through a collection of 126 mutants in essential genes on the X chromosome to identify candidates that increase or decrease competition for the FSC niche. We identified approximately 55% and 6% of the mutations screened as putative FSC hypo- or hypercompetitors, respectively...
May 16, 2017: Genetics
https://www.readbyqxmd.com/read/28512062/hsa-mir-513b-5p-suppresses-cell-proliferation-and-promotes-p53-expression-by-targeting-irf2-in-testicular-embryonal-carcinoma-cells
#15
Xiaorong Wang, Xiansheng Zhang, Guishuan Wang, Lu Wang, Yu Lin, Fei Sun
Previous studies have reported the miR-513b is located on the X chromosome and is preferentially expressed in testis. However, the underlying mechanisms of miR-513b involved in spermatogenesis remains unknown. In this study, we found that hsa-miR-513b-5p was highly expressed in the testes of infertile males with maturation arrest compared with normal controls. Overexpression of hsa-miR-513b-5p suppressed testicular embryonal carcinoma (NT2) cell proliferation and induced apoptosis in vitro, whereas silencing of hsa-miR-513b-5p reversed these effects...
May 13, 2017: Gene
https://www.readbyqxmd.com/read/28510597/ubiquitylation-of-the-acetyltransferase-mof-in-drosophila-melanogaster
#16
Sarah Schunter, Raffaella Villa, Victoria Flynn, Jan B Heidelberger, Anne-Kathrin Classen, Petra Beli, Peter B Becker
The nuclear acetyltransferase MOF (KAT8 in mammals) is a subunit of at least two multi-component complexes involved in transcription regulation. In the context of complexes of the 'Non-Specific-Lethal' (NSL) type it controls transcription initiation of many nuclear housekeeping genes and of mitochondrial genes. While this function is conserved in metazoans, MOF has an additional, specific function in Drosophila in the context of dosage compensation. As a subunit of the male-specific-lethal dosage compensation complex (MSL-DCC) it contributes to the doubling of transcription output from the single male X chromosome by acetylating histone H4...
2017: PloS One
https://www.readbyqxmd.com/read/28510256/interregional-cytogenetic-comparisons-in-halichoeres-and-thalassoma-wrasses-labridae-of-coastal-and-insular-regions-of-the-southwestern-atlantic
#17
K D J Amorim, M B Cioffi, L A C Bertollo, R X Soares, L L Calado, A T Borges, G W W F Costa, W F Molina
The distribution patterns of marine biodiversity are complex, resulting from vicariant events and species dispersion, as well as local ecological and adaptive conditions. Furthermore, the wide geographic distribution of some species may be hindered by biogeographical barriers that can interfere in the gene flow. Cytogenetic analyses in marine fishes, especially those involving populations in small remote insular environments, remain scarce. In the Western Atlantic, species of wrasses from the genera Halichoeres and Thalassoma occur in biogeographic arrangements that make it possible to analyze cytogenetic patterns between coastal and widely separated island populations...
May 10, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28506992/reduced-mad2-levels-dampen-apoptotic-response-to-non-exchange-sex-chromosomes-and-lead-to-sperm-aneuploidy
#18
Imrul Faisal, Liisa Kauppi
In meiosis, non-exchange homologous chromosomes are at risk for missegregation and should be monitored by the spindle assembly checkpoint (SAC) to avoid formation of aneuploid gametes. Sex chromosome missegregation is particularly common and can lead to sterility or to aneuploid offspring (e.g. individuals with Turner or Klinefelter syndrome). Despite major implications for health and reproduction, modifiers of meiotic SAC robustness and the subsequent apoptotic response in male mammals remain obscure. Levels of SAC proteins, e...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28506985/histone-acetyltransferase-kat8-is-essential-for-mouse-oocyte-development-by-regulating-ros-levels
#19
Shi Yin, Xiaohua Jiang, Hanwei Jiang, Qian Gao, Fang Wang, Suixing Fan, Teka Khan, Nazish Jabeen, Manan Khan, Asim Ali, Peng Xu, Tej K Pandita, Heng-Yu Fan, Yuanwei Zhang, Qinghua Shi
Proper oocyte development is critical for female fertility and requires timely and accurate control of gene expression. K (Lysine) Acetyltransferase 8 (KAT8), an important component of the X chromosome dosage compensation system in Drosophila, regulates gene activity by acetylating histone H4 preferentially at lysine 16. To explore the function of Kat8 during mouse oocyte development, we crossed Kat8(flox/flox) mice with Gdf9-Cre mice to specifically delete Kat8 in oocytes. Oocyte Kat8 deletion resulted in female infertility with follicle development failure in the secondary and preantral follicle stages...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28506826/an-x-chromosome-linked-mouse-model-ndufa1-s55a-for-systemic-partial-complex-i-deficiency-for-studying-predisposition-to-neurodegeneration-and-other-diseases
#20
Chul Kim, Prasanth Potluri, Ahmed Khalil, Daria Gaut, Meagan McManus, Shannon Compton, Douglas C Wallace, Nagendra Yadava
The respiratory chain Complex I deficiencies are the most common cause of mitochondrial diseases. Complex I biogenesis is controlled by 58 genes and at least 47 of these cause mitochondrial disease in humans. Two of these are X-chromosome linked nuclear (nDNA) genes (NDUFA1 and NDUFB11), and 7 are mitochondrial (mtDNA, MT-ND1-6, -4L) genes, which may be responsible for sex-dependent variation in the presentation of mitochondrial diseases. In this study, we describe an X-chromosome linked mouse model (Ndufa1(S55A)) for systemic partial Complex I deficiency...
May 12, 2017: Neurochemistry International
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