keyword
https://read.qxmd.com/read/32278351/the-mutational-burden-and-oligogenic-inheritance-in-klippel-feil-syndrome
#21
JOURNAL ARTICLE
Ziquan Li, Sen Zhao, Siyi Cai, Yuanqiang Zhang, Lianlei Wang, Yuchen Niu, Xiaoxin Li, Jianhua Hu, Jingdan Chen, Shengru Wang, Huizi Wang, Gang Liu, Ye Tian, Zhihong Wu, Terry Jianguo Zhang, Yipeng Wang, Nan Wu
BACKGROUND: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity. METHODS: We consecutively recruited a Chinese cohort of 37 patients with KFS. The clinical manifestations and radiological assessments were analyzed and whole-exome sequencing (WES) was performed. Additionally, rare variants in KFS cases and controls were compared using genetic burden analysis...
April 11, 2020: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/32081709/baz1b-is-a-candidate-gene-responsible-for-hypothyroidism-in-williams-syndrome
#22
JOURNAL ARTICLE
Lorenzo Allegri, Federica Baldan, Catia Mio, Mario De Felice, Elena Amendola, Giuseppe Damante
Williams syndrome (WS) is a rare neurodevelopmental disorder associated to a hemizygous deletion of 28 genes located on chromosome 7q11.23. WS affected subjects frequently suffer from several endocrine abnormalities including hypothyroidism due to defects in thyroid morphology. To date, several genes involved in thyroid dysgenesis have been identified, nonetheless, none of them is located in the 7q11.23 region. Thus, the hypothyroidism-linked molecular features in WS are not yet known. In this study we focused on one of the WS deleted gene, BAZ1B, demonstrating that its downregulation in thyroid cells leads to cell viability and survival decrement...
June 2020: European Journal of Medical Genetics
https://read.qxmd.com/read/31840056/dosage-analysis-of-the-7q11-23-williams-region-identifies-baz1b-as-a-major-human-gene-patterning-the-modern-human-face-and-underlying-self-domestication
#23
JOURNAL ARTICLE
Matteo Zanella, Alessandro Vitriolo, Alejandro Andirko, Pedro Tiago Martins, Stefanie Sturm, Thomas O'Rourke, Magdalena Laugsch, Natascia Malerba, Adrianos Skaros, Sebastiano Trattaro, Pierre-Luc Germain, Marija Mihailovic, Giuseppe Merla, Alvaro Rada-Iglesias, Cedric Boeckx, Giuseppe Testa
We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest (NC) stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 copy number variants. Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in NC-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we found a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the human self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face...
December 2019: Science Advances
https://read.qxmd.com/read/30266865/quantitative-proteomics-of-the-mitotic-chromosome-scaffold-reveals-the-association-of-baz1b-with-chromosomal-axes
#24
JOURNAL ARTICLE
Shinya Ohta, Takako Taniguchi, Nobuko Sato, Mayako Hamada, Hisaaki Taniguchi, Juri Rappsilber
In mitosis, chromosomes achieve their characteristic shape through condensation, an essential process for proper segregation of the genome during cell division. A classical model for mitotic chromosome condensation proposes that non-histone proteins act as a structural framework called the chromosome scaffold. The components of the chromosome scaffold, such as DNA topoisomerase IIα (TOP2A) and structural maintenance of chromosomes protein 2 (SMC2), are necessary to generate stable mitotic chromosomes; however, the existence of this scaffold remains controversial...
February 2019: Molecular & Cellular Proteomics: MCP
https://read.qxmd.com/read/30008175/exome-sequencing-of-85-williams-beuren-syndrome-cases-rules-out-coding-variation-as-a-major-contributor-to-remaining-variance-in-social-behavior
#25
JOURNAL ARTICLE
Nathan D Kopp, Phoebe C R Parrish, Michael Lugo, Joseph D Dougherty, Beth A Kozel
BACKGROUND: Large, multigenic deletions at chromosome 7q11.23 result in a highly penetrant constellation of physical and behavioral symptoms known as Williams-Beuren syndrome (WS). Of particular interest is the unusual social-cognitive profile evidenced by deficits in social cognition and communication reminiscent of autism spectrum disorders (ASD) that are juxtaposed with normal or even relatively enhanced social motivation. Interestingly, duplications in the same region also result in ASD-like phenotypes as well as social phobias...
September 2018: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/29860323/activity-of-genes-with-functions-in-human-williams-beuren-syndrome-is-impacted-by-mobile-element-insertions-in-the-gray-wolf-genome
#26
JOURNAL ARTICLE
Bridgett M vonHoldt, Sarah S Ji, Matthew L Aardema, Daniel R Stahler, Monique A R Udell, Janet S Sinsheimer
In canines, transposon dynamics have been associated with a hyper-social behavioral syndrome, although the functional mechanism has yet to be described. We investigate the epigenetic and transcriptional consequences of these behavior-associated mobile element insertions (MEIs) in dogs and Yellowstone gray wolves. We posit that the transposons themselves may not be the causative feature; rather, their transcriptional regulation may exert the functional impact. We survey four outlier transposons associated with hyper-sociability, with the expectation that they are targeted for epigenetic silencing...
June 1, 2018: Genome Biology and Evolution
https://read.qxmd.com/read/29021563/non-canonical-reader-modules-of-baz1a-promote-recovery-from-dna-damage
#27
JOURNAL ARTICLE
Mariano Oppikofer, Meredith Sagolla, Benjamin Haley, Hui-Min Zhang, Sarah K Kummerfeld, Jawahar Sudhamsu, E Megan Flynn, Tianyi Bai, Jennifer Zhang, Claudio Ciferri, Andrea G Cochran
Members of the ISWI family of chromatin remodelers mobilize nucleosomes to control DNA accessibility and, in some cases, are required for recovery from DNA damage. However, it remains poorly understood how the non-catalytic ISWI subunits BAZ1A and BAZ1B might contact chromatin to direct the ATPase SMARCA5. Here, we find that the plant homeodomain of BAZ1A, but not that of BAZ1B, has the unusual function of binding DNA. Furthermore, the BAZ1A bromodomain has a non-canonical gatekeeper residue and binds relatively weakly to acetylated histone peptides...
October 11, 2017: Nature Communications
https://read.qxmd.com/read/28731282/altered-signaling-associated-with-chronic-arsenic-exposure-in-human-skin-keratinocytes
#28
JOURNAL ARTICLE
Sartaj Ahmad Mir, Santosh Renuse, Gajanan Sathe, Aafaque Ahmad Khan, Arun H Patil, Vishalakshi Nanjappa, Firdous Ahmad Bhat, T S Keshava Prasad, Ashok K Giri, Aditi Chatterjee, Harsha Gowda
Modulation of signaling pathways upon chronic arsenic exposure remains poorly studied. Here, we carried out SILAC-based quantitative phosphoproteomics analysis to dissect the signaling induced upon chronic arsenic exposure in human skin keratinocyte cell line, HaCaT. We identified 4171 unique phosphosites derived from 2000 proteins. We observed differential phosphorylation of 406 phosphosites (twofold) corresponding to 305 proteins. Several pathways involved in cytoskeleton maintenance and organization were found to be significantly enriched (p<0...
December 2017: Proteomics. Clinical Applications
https://read.qxmd.com/read/28350066/dna-damage-response-defect-in-williams-beuren-syndrome
#29
JOURNAL ARTICLE
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://read.qxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#30
JOURNAL ARTICLE
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...
March 2017: International Journal of Molecular Medicine
https://read.qxmd.com/read/27882376/plasma-levels-of-the-anti-coagulation-protein-c-and-the-risk-of-ischaemic-heart-disease-a-mendelian-randomisation-study
#31
JOURNAL ARTICLE
C Mary Schooling, Yi Zhong
Protein C is an environmentally modifiable anticoagulant, which protects against venous thrombosis, whether it also protects against ischaemic heart disease is unclear, based on observational studies and relatively small genetic studies. It was our study aim to clarify the role of protein C in ischaemic heart disease. The risk of coronary artery disease/myocardial infarction (CAD/MI) was assessed according to genetically predicted protein C in very large studies. Associations with lipids and diabetes were similarly assessed to rule out effects via traditional cardiovascular disease risk factors...
January 26, 2017: Thrombosis and Haemostasis
https://read.qxmd.com/read/27745970/l-arginine-modulates-t-cell-metabolism-and-enhances-survival-and-anti-tumor-activity
#32
JOURNAL ARTICLE
Roger Geiger, Jan C Rieckmann, Tobias Wolf, Camilla Basso, Yuehan Feng, Tobias Fuhrer, Maria Kogadeeva, Paola Picotti, Felix Meissner, Matthias Mann, Nicola Zamboni, Federica Sallusto, Antonio Lanzavecchia
Metabolic activity is intimately linked to T cell fate and function. Using high-resolution mass spectrometry, we generated dynamic metabolome and proteome profiles of human primary naive T cells following activation. We discovered critical changes in the arginine metabolism that led to a drop in intracellular L-arginine concentration. Elevating L-arginine levels induced global metabolic changes including a shift from glycolysis to oxidative phosphorylation in activated T cells and promoted the generation of central memory-like cells endowed with higher survival capacity and, in a mouse model, anti-tumor activity...
October 20, 2016: Cell
https://read.qxmd.com/read/27449264/wstf-promotes-proliferation-and-invasion-of-lung-cancer-cells-by-inducing-emt-via-pi3k-akt-and-il-6-stat3-signaling-pathways
#33
JOURNAL ARTICLE
Jin Meng, Xu-Tao Zhang, Xin-Li Liu, Lei Fan, Chen Li, Yang Sun, Xiao-Hua Liang, Jian-Bo Wang, Qi-Bing Mei, Feng Zhang, Tao Zhang
Williams syndrome transcription factor (WSTF), which is encoded by the BAZ1B gene, was first identified as a hemizygously deleted gene in patients with Williams syndrome. WSTF protein has been reported to be involved in transcription, replication, chromatin remodeling and DNA damage response, and also functions as a tyrosine protein kinase. However, the function of WSTF in cancer is not known. Here, we show that WSTF overexpression promotes proliferation, colony formation, migration and invasion of lung cancer A549 and H1299 cells...
November 2016: Cellular Signalling
https://read.qxmd.com/read/27053203/baz1b-in-nucleus-accumbens-regulates-reward-related-behaviors-in-response-to-distinct-emotional-stimuli
#34
JOURNAL ARTICLE
HaoSheng Sun, Jennifer A Martin, Craig T Werner, Zi-Jun Wang, Diane M Damez-Werno, Kimberly N Scobie, Ning-Yi Shao, Caroline Dias, Jacqui Rabkin, Ja Wook Koo, Amy M Gancarz, Ezekiell A Mouzon, Rachael L Neve, Li Shen, David M Dietz, Eric J Nestler
UNLABELLED: ATP-dependent chromatin remodeling proteins are being implicated increasingly in the regulation of complex behaviors, including models of several psychiatric disorders. Here, we demonstrate that Baz1b, an accessory subunit of the ISWI family of chromatin remodeling complexes, is upregulated in the nucleus accumbens (NAc), a key brain reward region, in both chronic cocaine-treated mice and mice that are resilient to chronic social defeat stress. In contrast, no regulation is seen in mice that are susceptible to this chronic stress...
April 6, 2016: Journal of Neuroscience
https://read.qxmd.com/read/27050524/nascent-dna-proteomics-reveals-a-chromatin-remodeler-required-for-topoisomerase-i-loading-at-replication-forks
#35
JOURNAL ARTICLE
Cyril Ribeyre, Ralph Zellweger, Maeva Chauvin, Nicole Bec, Christian Larroque, Massimo Lopes, Angelos Constantinou
During transcription and DNA replication, the DNA template is overwound ahead of RNA and DNA polymerases and relaxed by DNA topoisomerases. Inhibitors of topoisomerases are potent anti-cancer agents. Camptothecin traps topoisomerase I on DNA and exerts preferential cytotoxicity toward cancer cells by way of its interference with the progression of replication forks. Starting with an unbiased proteomic analysis, we find that the chromatin remodeling complex BAZ1B-SMARCA5 accumulates near replication forks in camptothecin-exposed cells...
April 12, 2016: Cell Reports
https://read.qxmd.com/read/26252223/genetic-variants-associated-with-lipid-profiles-in-chinese-patients-with-type-2-diabetes
#36
JOURNAL ARTICLE
Xiaomu Kong, Qi Zhao, Xiaoyan Xing, Bo Zhang, Xuelian Zhang, Jing Hong, Wenying Yang
Dyslipidemia is a strong risk factor for cardiovascular disease among patients with type 2 diabetes (T2D). The aim of this study was to identify lipid-related genetic variants in T2D patients of Han Chinese ancestry. Among 4,908 Chinese T2D patients who were not taking lipid-lowering medications, single nucleotide polymorphisms (SNPs) in seven genes previously found to be associated with lipid traits in genome-wide association studies conducted in populations of European ancestry (ABCA1, GCKR, BAZ1B, TOMM40, DOCK7, HNF1A, and HNF4A) were genotyped...
2015: PloS One
https://read.qxmd.com/read/25979708/baz1b-is-dispensable-for-h2ax-phosphorylation-on-tyrosine-142-during-spermatogenesis
#37
JOURNAL ARTICLE
Tyler J Broering, Yuan-Liang Wang, Ram Naresh Pandey, Rashmi S Hegde, Shao-Chun Wang, Satoshi H Namekawa
Meiosis is precisely regulated by the factors involved in DNA damage response in somatic cells. Among them, phosphorylation of H2AX on Serine 139 (γH2AX) is an essential signal for the silencing of unsynapsed sex chromosomes during male meiosis. However, it remains unknown how adjacent H2AX phosphorylation on Tyrosine 142 (pTyr142) is regulated in meiosis. Here we investigate the meiotic functions of BAZ1B (WSTF), the only known Tyr142 kinase in somatic cells, using mice possessing a conditional deletion of BAZ1B...
2015: Biology Open
https://read.qxmd.com/read/25609707/subnuclear-domain-proteins-in-cancer-cells-support-the-functions-of-runx2-in-the-dna-damage-response
#38
JOURNAL ARTICLE
Seungchan Yang, Alexandre J C Quaresma, Jeffrey A Nickerson, Karin M Green, Scott A Shaffer, Anthony N Imbalzano, Lori A Martin-Buley, Jane B Lian, Janet L Stein, Andre J van Wijnen, Gary S Stein
Cancer cells exhibit modifications in nuclear architecture and transcriptional control. Tumor growth and metastasis are supported by RUNX family transcriptional scaffolding proteins, which mediate the assembly of nuclear-matrix-associated gene-regulatory hubs. We used proteomic analysis to identify RUNX2-dependent protein-protein interactions associated with the nuclear matrix in bone, breast and prostate tumor cell types and found that RUNX2 interacts with three distinct proteins that respond to DNA damage - RUVBL2, INTS3 and BAZ1B...
February 15, 2015: Journal of Cell Science
https://read.qxmd.com/read/25368387/dgcr14-induces-il17a-gene-expression-through-the-ror%C3%AE-baz1b-rsks2-complex
#39
JOURNAL ARTICLE
Ichiro Takada
The Dgcr14/Es2 gene is located in a chromosomal region the loss of which has been associated with DiGeorge syndrome, a cause of immunodeficiency, heart defects, and skeletal abnormalities. However, the role of DGCR14 protein remains to be elucidated. Here, I found that DGCR14 protein acts as a coactivator of RORγt in TH17 cells. Biochemical purification of the RORγ coregulator complex allowed me to identify the associated DGCR14 protein by matrix-assisted laser desorption ionization-time of flight mass spectrometry...
January 2015: Molecular and Cellular Biology
https://read.qxmd.com/read/25367296/differences-in-embryo-quality-are-associated-with-differences-in-oocyte-composition-a-proteomic-study-in-inbred-mice
#40
JOURNAL ARTICLE
Martin J Pfeiffer, Leila Taher, Hannes Drexler, Yutaka Suzuki, Wojciech Makałowski, Caroline Schwarzer, Bingyuan Wang, Georg Fuellen, Michele Boiani
Current models of early mouse development assign roles to stochastic processes and epigenetic regulation, which are considered to be as influential as the genetic differences that exist between strains of the species Mus musculus. The aim of this study was to test whether mouse oocytes vary from each other in the abundance of gene products that could influence, prime, or even predetermine developmental trajectories and features of derivative embryos. Using the paradigm of inbred mouse strains, we quantified 2010 protein groups (SILAC LC-MS/MS) and 15205 transcripts (RNA deep sequencing) present simultaneously in oocytes of four strains tested (129/Sv, C57Bl/6J, C3H/HeN, DBA/2J)...
February 2015: Proteomics
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