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https://www.readbyqxmd.com/read/28103492/a-novel-type-of-gene-interaction-in-d-melanogaster
#1
B F Chadov, E V Chadova, N B Fedorova
The genes interact according to classical mechanisms, namely, complementation, modification, polymery, and epistasis, in the cells and organisms carrying these genes. Here we describe a novel type of gene interaction when the interacting genes reside in parents, whereas the interaction event takes place in their progenies lacking these genes. The conditional mutations in the D. melanogaster male X chromosome caused the "prohibition on producing daughters" in its offspring. The chromosomal rearrangements in chromosomes 2 and 3 of its female partner removed the prohibition...
January 11, 2017: Mutation Research
https://www.readbyqxmd.com/read/28101371/a-novel-plp1-mutation-f240l-identified-in-a-patient-with-connatal-type-pelizaeus-merzbacher-disease
#2
Yongping Lu, Keiko Shimojima, Tomoko Sakuma, Sachiko Nakaoka, Toshiyuki Yamamoto
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28100589/meiotic-consequences-of-genetic-divergence-across-the-murine-pseudoautosomal-region
#3
Beth L Dumont
The production of haploid gametes during meiosis is dependent on the homology-driven processes of pairing, synapsis, and recombination. On the mammalian heterogametic sex chromosomes, these key meiotic activities are confined to the pseudoautosomal region (PAR), a short region of near-perfect sequence homology between the X and Y chromosomes. Despite its established importance for meiosis, the PAR is rapidly evolving, raising the question of how proper X/Y segregation is buffered against the accumulation of homology-disrupting mutations...
January 18, 2017: Genetics
https://www.readbyqxmd.com/read/28100381/-trend-of-mortality-of-congenital-malformation-in-children-aged-5-years-in-beijing-2006-2015
#4
J Wang, D Y Li, W X Zhang, Y C Li, J Wang
Objective: To investigate the change in mortality of congenital malformation in children aged <5 years in Beijing from 2006 to 2015. Methods: Using the death surveillance data in children aged <5 years in Beijing from 2006 to 2015, which was collected from the real-time surveillance network, we calculated the area and age distributions of the mortality of congenital malformation in children aged <5 years in Beijing. Meanwhile, the variations of age, time and space in the causes of deaths were discussed...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#5
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
January 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28099765/when-and-why-does-sex-chromosome-dosage-compensation-evolve
#6
Christopher H Chandler
In many species, sex is determined by sex chromosomes, and the sex-specific chromosome (Y or W) stops recombining until it degenerates and carries fewer genes than its recombining counterpart (X or Z). This creates an imbalance in the dosage of most sex-linked genes between males and females. Early work in model organisms demonstrated that X chromosomes in multiple groups independently evolved regulatory mechanisms maintaining balanced expression of X-linked genes. However, recent studies have shown that these dosage compensation mechanisms are far from universal...
January 18, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#7
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#8
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098850/a-rare-exception-to-haldane-s-rule-are-x-chromosomes-key-to-hybrid-incompatibilities
#9
P A Moran, M G Ritchie, N W Bailey
The prevalence of Haldane's rule suggests that sex chromosomes commonly have a key role in reproductive barriers and speciation. However, the majority of research on Haldane's rule has been conducted in species with conventional sex determination systems (XY and ZW) and exceptions to the rule have been understudied. Here we test the role of X-linked incompatibilities in a rare exception to Haldane's rule for female sterility in field cricket sister species (Teleogryllus oceanicus and T. commodus). Both have an XO sex determination system...
January 18, 2017: Heredity
https://www.readbyqxmd.com/read/28096187/gprasp2-a-novel-causative-gene-mutated-in-an-x-linked-recessive-syndromic-hearing-loss
#10
Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao
BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS: Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family...
January 17, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28095777/random-x-chromosome-inactivation-dynamics-in-vivo-by-single-cell-rna-sequencing
#11
Menghan Wang, Fangqin Lin, Ke Xing, Li Liu
BACKGROUND: Random X-chromosome inactivation (rXCI) is important for the maintenance of normal somatic cell functions in female eutherian mammals. The dynamics of X-chromosome inactivation initiation has been widely studied by assessing embryonic stem cell differentiation in vitro. To investigate the phenomenon in vivo, we applied RNA sequencing to single cells from female embryos obtained from a natural intercrossing of two genetically distant mouse strains. Instead of artificially assigning the parental origin of the inactive X chromosome, the inactive X chromosomes in this study were randomly selected from the natural developmental periods and thus included both paternal and maternal origins...
January 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28095508/the-smc5-6-complex-restricts-hbv-when-localized-to-nd10-without-inducing-an-innate-immune-response-and-is-counteracted-by-the-hbv-x-protein-shortly-after-infection
#12
Congrong Niu, Christine M Livingston, Li Li, Rudolf K Beran, Stephane Daffis, Dhivya Ramakrishnan, Dara Burdette, Leanne Peiser, Eduardo Salas, Hilario Ramos, Mei Yu, Guofeng Cheng, Michel Strubin, William E Delaney Iv, Simon P Fletcher
The structural maintenance of chromosome 5/6 complex (Smc5/6) is a restriction factor that represses hepatitis B virus (HBV) transcription. HBV counters this restriction by expressing HBV X protein (HBx), which targets Smc5/6 for degradation. However, the mechanism by which Smc5/6 suppresses HBV transcription and how HBx is initially expressed is not known. In this study we characterized viral kinetics and the host response during HBV infection of primary human hepatocytes (PHH) to address these unresolved questions...
2017: PloS One
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#13
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28090675/cross-sectional-study-shows-that-impaired-bone-mineral-status-and-metabolism-are-found-in-non-mosaic-triple-x-syndrome
#14
Stefano Stagi, Mariarosaria Di Tommaso, Perla Scalini, Elena Sandini, Fabrizio Masoni, Francesco Chiarelli, Alberto Verrotti, Sabrina Giglio, Silvia Romano, Maurizio de Martino
AIM: The effect of a supernumerary X chromosome on bones has not been reported and this study evaluated bone mineral status and metabolism in non-mosaic triple X syndrome. METHODS: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations...
January 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28089441/prognostic-implications-of-monosomies-in-patients-with-multiple-myeloma
#15
Sang-Yong Shin, Hyeon-Seok Eom, Ji Yeon Sohn, Hyewon Lee, Boram Park, Jungnam Joo, Ja-Hyun Jang, Mi-Na Lee, Jung Kwon Kim, Sun-Young Kong
BACKGROUND: Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM. MATERIALS AND METHODS: Karyotypes were determined using conventional cytogenetics and fluorescence in situ hybridization (FISH)...
December 26, 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28086750/a-genome-wide-scan-for-genes-under-balancing-selection-in-drosophila-melanogaster
#16
Myriam Croze, Andreas Wollstein, Vedran Božičević, Daniel Živković, Wolfgang Stephan, Stephan Hutter
BACKGROUND: In the history of population genetics balancing selection has been considered as an important evolutionary force, yet until today little is known about its abundance and its effect on patterns of genetic diversity. Several well-known examples of balancing selection have been reported from humans, mice, plants, and parasites. However, only very few systematic studies have been carried out to detect genes under balancing selection. We performed a genome scan in Drosophila melanogaster to find signatures of balancing selection in a derived (European) and an ancestral (African) population...
January 13, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28081371/gwas-identifies-new-loci-for-painful-temporomandibular-disorder
#17
A E Sanders, D Jain, T Sofer, K F Kerr, C C Laurie, J R Shaffer, M L Marazita, L M Kaste, G D Slade, R B Fillingim, R Ohrbach, W Maixner, T Kocher, O Bernhardt, A Teumer, C Schwahn, K Sipilä, R Lähdesmäki, M Männikkö, P Pesonen, M Järvelin, C M Rizzatti-Barbosa, C B Meloto, M Ribeiro-Dasilva, L Diatchenko, P Serrano, S B Smith
Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and twice as high among women as men. We conducted a discovery genome-wide association study (GWAS) of TMD in 10,153 participants (769 cases, 9,384 controls) of the US Hispanic Community Health Study/Study of Latinos (HCHS/SOL). The most promising single-nucleotide polymorphisms (SNPs) were tested in meta-analysis of 4 independent cohorts...
January 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28081279/karyotype-analysis-and-ribosomal-gene-localization-of-spotted-knifejaw-oplegnathus-punctatus
#18
P Z Li, D D Cao, X B Liu, Y J Wang, H Y Yu, X J Li, Q Q Zhang, X B Wang
The spotted knifejaw, Oplegnathus punctatus, is an important aquaculture fish species in China. To better understand the chromosomal microstructure and the karyotypic origin of this species, cytogenetic analysis was performed using Giemsa staining to identify metaphase chromosomes, C-banding to detect C-positive heterochromatin, silver staining to identify the nucleolus organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) for physical mapping of the major (18S rDNA) and minor (5S rDNA) ribosomal genes...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28078817/birth-of-puppies-of-predetermined-sex-after-artificial-insemination-with-a-low-number-of-sex-sorted-frozen-thawed-spermatozoa-in-field-conditions
#19
Yun-Fang Wei, Fang-Liang Chen, Shu-Sheng Tang, Ai-Guo Mao, Li-Guang Li, Lu-Guang Cheng, Chao Chen, Fei-Xiang Li, Bin Wang, Tao Xu, Yue-Jun Zhang, Jing Li, Jiu-Sheng Wan
The aim of this study was to evaluate fertility and sex ratios after artificial insemination in dogs under field conditions. Semen was cryopreserved as unsorted (control) or was separated into X- and Y-chromosome-bearing sperm using a cell sorter. Sixty female dogs were inseminated with frozen-thawed spermatozoa of 100 × 10(6) unsorted (a dose in practice) and 4 × 10(6) sorted (X and Y group, respectively). A total of 20 dogs became pregnant and 126 puppies were born from the three groups. The percentage of parturition was similar for the X (5/20; 25...
January 11, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#20
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
January 10, 2017: Journal of Clinical Pathology
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