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https://www.readbyqxmd.com/read/27295951/rna-seq-analysis-of-gtf2ird1-knockout-epidermal-tissue-provides-potential-insights-into-molecular-mechanisms-underpinning-williams-beuren-syndrome
#1
Susan M Corley, Cesar P Canales, Paulina Carmona-Mora, Veronica Mendoza-Reinosa, Annemiek Beverdam, Edna C Hardeman, Marc R Wilkins, Stephen J Palmer
BACKGROUND: Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q11.23. Genotype/phenotype analysis of atypical microdeletions implicates two evolutionary-related transcription factors, GTF2I and GTF2IRD1, as prime candidates for the cause of the facial dysmorphology. RESULTS: Using a targeted Gtf2ird1 knockout mouse, we employed massively-parallel sequencing of mRNA (RNA-Seq) to understand changes in the transcriptional landscape associated with inactivation of Gtf2ird1 in lip tissue...
2016: BMC Genomics
https://www.readbyqxmd.com/read/27239038/an-in%C3%A2-vivo-gain-of-function-screen-identifies-the-williams-beuren-syndrome-gene-gtf2ird1-as-a-mammary-tumor-promoter
#2
Yongliang Huo, Timothy Su, Qiuyin Cai, Ian G Macara
The broad implementation of precision medicine in cancer is impeded by the lack of a complete inventory of the genes involved in tumorigenesis. We performed in vivo screening of ∼1,000 genes that are associated with signaling for positive roles in breast cancer, using lentiviral expression vectors in primary MMTV-ErbB2 mammary tissue. Gain of function of five genes, including RET, GTF2IRD1, ADORA1, LARS2, and DPP8, significantly promoted mammary tumor growth. We further studied one tumor-promoting gene, the transcription factor GTF2IRD1...
June 7, 2016: Cell Reports
https://www.readbyqxmd.com/read/26884464/gtf2ird1-dependent-mohawk-expression-regulates-mechanosensing-properties-of-the-tendon
#3
Tomohiro Kayama, Masaki Mori, Yoshiaki Ito, Takahide Matsushima, Ryo Nakamichi, Hidetsugu Suzuki, Shizuko Ichinose, Mitsuru Saito, Keishi Marumo, Hiroshi Asahara
Mechanoforces experienced by an organ are translated into biological information for cellular sensing and response. In mammals, the tendon connective tissue experiences and resists physical forces, with tendon-specific mesenchymal cells called tenocytes orchestrating extracellular matrix (ECM) turnover. We show that Mohawk (Mkx), a tendon-specific transcription factor, is essential in mechanoresponsive tenogenesis through regulation of its downstream ECM genes such as type I collagens and proteoglycans such as fibromodulin both in vivo and in vitro Wild-type (WT) mice demonstrated an increase in collagen fiber diameter and density in response to physical treadmill exercise, whereas in Mkx(-/-) mice, tendons failed to respond to the same mechanical stimulation...
April 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/26808113/high-density-genotyping-of-immune-related-loci-identifies-new-sle-risk-variants-in-individuals-with-asian-ancestry
#4
Celi Sun, Julio E Molineros, Loren L Looger, Xu-Jie Zhou, Kwangwoo Kim, Yukinori Okada, Jianyang Ma, Yuan-Yuan Qi, Xana Kim-Howard, Prasenjeet Motghare, Krishna Bhattarai, Adam Adler, So-Young Bang, Hye-Soon Lee, Tae-Hwan Kim, Young Mo Kang, Chang-Hee Suh, Won Tae Chung, Yong-Beom Park, Jung-Yoon Choe, Seung Cheol Shim, Yuta Kochi, Akari Suzuki, Michiaki Kubo, Takayuki Sumida, Kazuhiko Yamamoto, Shin-Seok Lee, Young Jin Kim, Bok-Ghee Han, Mikhail Dozmorov, Kenneth M Kaufman, Jonathan D Wren, John B Harley, Nan Shen, Kek Heng Chua, Hong Zhang, Sang-Cheol Bae, Swapan K Nath
Systemic lupus erythematosus (SLE) has a strong but incompletely understood genetic architecture. We conducted an association study with replication in 4,478 SLE cases and 12,656 controls from six East Asian cohorts to identify new SLE susceptibility loci and better localize known loci. We identified ten new loci and confirmed 20 known loci with genome-wide significance. Among the new loci, the most significant locus was GTF2IRD1-GTF2I at 7q11.23 (rs73366469, Pmeta = 3.75 × 10(-117), odds ratio (OR) = 2.38), followed by DEF6, IL12B, TCF7, TERT, CD226, PCNXL3, RASGRP1, SYNGR1 and SIGLEC6...
March 2016: Nature Genetics
https://www.readbyqxmd.com/read/26508570/de-novo-variants-in-sporadic-cases-of-childhood-onset-schizophrenia
#5
Amirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, Sirui Zhou, Alexandre Dionne-Laporte, Dan Spiegelman, Cynthia V Bourassa, Julie Gauthier, Fadi F Hamdan, Lan Xiong, Patrick A Dion, Ridha Joober, Judith Rapoport, Guy A Rouleau
Childhood-onset schizophrenia (COS), defined by the onset of illness before age 13 years, is a rare severe neurodevelopmental disorder of unknown etiology. Recently, sequencing studies have identified rare, potentially causative de novo variants in sporadic cases of adult-onset schizophrenia and autism. In this study, we performed exome sequencing of 17 COS trios in order to test whether de novo variants could contribute to this disease. We identified 20 de novo variants in 17 COS probands, which is consistent with the de novo mutation rate reported in the adult form of the disease...
June 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26320362/association-of-gtf2i-and-gtf2ird1-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-han-population
#6
Yuan Li, Ping Li, Si Chen, Ziyan Wu, Jing Li, Shulan Zhang, Chunwei Cao, Li Wang, Bin Liu, Fengchun Zhang, Yong Zhe Li
OBJECTIVES: Systemic lupus erythematosus (SLE) is the most common systemic autoimmune disease which likely involves complex interactions between genes and the environment. Two large-scale genome-wide association studies (GWAS) have implicated many loci as genetic risk factors associated with primary Sjögren's syndrome (pSS). Among them there are a number of pSS associated gene polymorphisms including the MHC-II, STAT4, IRF5, BLK, and TNIP1 genes that are shared with SLE. However, the association of other genes such as GTF2I, GTF2IRD1, and IL12A with SLE remain unknown...
September 2015: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/26275350/the-nuclear-localization-pattern-and-interaction-partners-of-gtf2ird1-demonstrate-a-role-in-chromatin-regulation
#7
Paulina Carmona-Mora, Jocelyn Widagdo, Florence Tomasetig, Cesar P Canales, Yeojoon Cha, Wei Lee, Abdullah Alshawaf, Mirella Dottori, Renee M Whan, Edna C Hardeman, Stephen J Palmer
GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variety of developmental systems and neurological functions. Human mapping data and analyses of knockout mice show that GTF2IRD1 and GTF2I underpin the craniofacial abnormalities, mental retardation, visuospatial deficits and hypersociability of WBS...
October 2015: Human Genetics
https://www.readbyqxmd.com/read/25392503/the-transcription-factor-gtf2ird1-regulates-the-topology-and-function-of-photoreceptors-by-modulating-photoreceptor-gene-expression-across-the-retina
#8
Tomohiro Masuda, Xiaodong Zhang, Cindy Berlinicke, Jun Wan, Anitha Yerrabelli, Elizabeth A Conner, Sten Kjellstrom, Ronald Bush, Snorri S Thorgeirsson, Anand Swaroop, Shiming Chen, Donald J Zack
The mechanisms that specify photoreceptor cell-fate determination, especially as regards to short-wave-sensitive (S) versus medium-wave-sensitive (M) cone identity, and maintain their nature and function, are not fully understood. Here we report the importance of general transcription factor II-I repeat domain-containing protein 1 (GTF2IRD1) in maintaining M cone cell identity and function as well as rod function. In the mouse, GTF2IRD1 is expressed in cell-fate determined photoreceptors at postnatal day 10...
November 12, 2014: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/25248400/the-role-of-gtf2ird1-in-the-auditory-pathology-of-williams-beuren-syndrome
#9
Cesar P Canales, Ann C Y Wong, Peter W Gunning, Gary D Housley, Edna C Hardeman, Stephen J Palmer
Williams-Beuren Syndrome (WBS) is a rare genetic condition caused by a hemizygous deletion involving up to 28 genes within chromosome 7q11.23. Among the spectrum of physical and neurological defects in WBS, it is common to find a distinctive response to sound stimuli that includes extreme adverse reactions to loud, or sudden sounds and a fascination with certain sounds that may manifest as strengths in musical ability. However, hearing tests indicate that sensorineural hearing loss (SNHL) is frequently found in WBS patients...
June 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/25105779/mapping-genetically-controlled-neural-circuits-of-social-behavior-and-visuo-motor-integration-by-a-preliminary-examination-of-atypical-deletions-with-williams-syndrome
#10
Fumiko Hoeft, Li Dai, Brian W Haas, Kristen Sheau, Masaru Mimura, Debra Mills, Albert Galaburda, Ursula Bellugi, Julie R Korenberg, Allan L Reiss
In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure...
2014: PloS One
https://www.readbyqxmd.com/read/25057328/genetic-contributions-to-visuospatial-cognition-in-williams-syndrome-insights-from-two-contrasting-partial-deletion-patients
#11
Hannah Broadbent, Emily K Farran, Esther Chin, Kay Metcalfe, May Tassabehji, Peter Turnpenny, Francis Sansbury, Emma Meaburn, Annette Karmiloff-Smith
BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype...
2014: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/24097066/a-genome-wide-association-study-in-han-chinese-identifies-a-susceptibility-locus-for-primary-sj%C3%A3-gren-s-syndrome-at-7q11-23
#12
Yongzhe Li, Kunlin Zhang, Hua Chen, Fei Sun, Juanjuan Xu, Ziyan Wu, Ping Li, Liuyan Zhang, Yang Du, Haixia Luan, Xi Li, Lijun Wu, Hongbin Li, Huaxiang Wu, Xiangpei Li, Xiaomei Li, Xiao Zhang, Lu Gong, Lie Dai, Lingyun Sun, Xiaoxia Zuo, Jianhua Xu, Huiping Gong, Zhijun Li, Shengquan Tong, Min Wu, Xiaofeng Li, Weiguo Xiao, Guochun Wang, Ping Zhu, Min Shen, Shengyun Liu, Dongbao Zhao, Wei Liu, Yi Wang, Cibo Huang, Quan Jiang, Guijian Liu, Bin Liu, Shaoxian Hu, Wen Zhang, Zhuoli Zhang, Xin You, Mengtao Li, Weixin Hao, Cheng Zhao, Xiaomei Leng, Liqi Bi, Yongfu Wang, Fengxiao Zhang, Qun Shi, Wencheng Qi, Xuewu Zhang, Yuan Jia, Jinmei Su, Qin Li, Yong Hou, Qingjun Wu, Dong Xu, Wenjie Zheng, Miaojia Zhang, Qian Wang, Yunyun Fei, Xuan Zhang, Jing Li, Ying Jiang, Xinping Tian, Lidan Zhao, Li Wang, Bin Zhou, Yang Li, Yan Zhao, Xiaofeng Zeng, Jurg Ott, Jing Wang, Fengchun Zhang
Primary Sjögren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjögren's syndrome have relied mostly on candidate gene approaches. To identify new genetic susceptibility loci for primary Sjögren's syndrome, we performed a three-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 556,134 autosomal SNPs in 542 cases and 1,050 controls. We then validated promising associations in 2 replication stages comprising 1,303 cases and 2,727 controls...
November 2013: Nature Genetics
https://www.readbyqxmd.com/read/23653586/a-1-3-mb-7q11-23-atypical-deletion-identified-in-a-cohort-of-patients-with-williams-beuren-syndrome
#13
L M Delgado, M Gutierrez, B Augello, C Fusco, L Micale, G Merla, E A Pastene
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies...
March 2013: Molecular Syndromology
https://www.readbyqxmd.com/read/23229069/evolution-of-general-transcription-factors
#14
K V Gunbin, A Ruvinsky
Three genes GTF2IRD1, GTF2I, and GTF2IRD2, which encode members of the GTF2I (or TFII-I) family of so-called general transcription factors, were discovered and studied during the last two decades. Chromosome location and similarity of exon-intron structures suggest that the family evolved by duplications. The initial duplication of ancestral proto-GTF2IRD1 gene likely occurred in early vertebrates prior to origin of cartilaginous fish and led to formation of GTF2I (>450 MYA), which was later lost in bony fish but successfully evolved in the land vertebrates...
February 2013: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/23185754/-study-on-gene-differential-expressions-of-substance-and-energy-metabolism-in-chronic-superficial-gastritis-patients-of-pi-deficiency-syndrome-and-of-pi-wei-hygropyrexia-syndrome
#15
Ze-Min Yang, Wei-Wen Chen, Ying-Fang Wang
OBJECTIVE: To analyze the metabolic levels of energy and substance in chronic superficial gastritis (CSG) patients of Pi deficiency syndrome (PDS) and of Pi-Wei hygropyrexia syndrome (PWHS), including lipid, protein, nucleic acid, carbohydrate, trace element, and energy metabolism, and to study the pathogenesis mechanism of PDS from substance and energy metabolisms. METHODS: Recruited were 8 CSG patients who visited at First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine and Guangdong Provincial Hospital of Traditional Chinese Medicine from June 2004 to March 2005, including 4 patients of PDS and 4 of PWHS...
September 2012: Chinese Journal of Integrated Traditional and Western Medicine
https://www.readbyqxmd.com/read/23145914/chip-chip-identifies-sec23a-cfdp1-and-nsd1-as-tfii-i-target-genes-in-human-neural-crest-progenitor-cells
#16
Aleksandr V Makeyev, Dashzeveg Bayarsaihan
Objectives :  GTF2I and GTF2IRD1 genes located in Williams-Beuren syndrome (WBS) critical region encode TFII-I family transcription factors. The aim of this study was to map genomic sites bound by these proteins across promoter regions of developmental regulators associated with craniofacial development. Design :  Chromatin was isolated from human neural crest progenitor cells and the DNA-binding profile was generated using the human RefSeq tiling promoter ChIP-chip arrays. Results :  TFII-I transcription factors are recruited to the promoters of SEC23A, CFDP1, and NSD1 previously defined as TFII-I target genes...
May 2013: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/23145142/sumoylation-of-gtf2ird1-regulates-protein-partner-interactions-and-ubiquitin-mediated-degradation
#17
Jocelyn Widagdo, Kylie M Taylor, Peter W Gunning, Edna C Hardeman, Stephen J Palmer
GTF2IRD1 is one of the genes implicated in Williams-Beuren syndrome, a disease caused by haploinsufficiency of certain dosage-sensitive genes within a hemizygous microdeletion of chromosome 7. GTF2IRD1 is a prime candidate for some of the major features of the disease, presumably caused by abnormally reduced abundance of this putative transcriptional repressor protein. GTF2IRD1 has been shown to interact with the E3 SUMO ligase PIASxβ, but the significance of this relationship is largely unexplored. Here, we demonstrate that GTF2IRD1 can be SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxβ...
2012: PloS One
https://www.readbyqxmd.com/read/23118870/a-role-for-transcription-factor-gtf2ird2-in-executive-function-in-williams-beuren-syndrome
#18
Melanie A Porter, Carol Dobson-Stone, John B J Kwok, Peter R Schofield, William Beckett, May Tassabehji
Executive functions are amongst the most heritable cognitive traits with twin studies indicating a strong genetic origin. However genes associated with this domain are unknown. Our research into the neurodevelopmental disorder Williams-Beuren syndrome (WBS) has identified a gene within the causative recurrent 1.5/1.6 Mb heterozygous microdeletion on chromosome 7q11.23, which may be involved in executive functioning. Comparative genome array screening of 55 WBS patients revealed a larger ∼1.8 Mb microdeletion in 18% of cases, which results in the loss of an additional gene, the transcription factor GTF2IRD2...
2012: PloS One
https://www.readbyqxmd.com/read/22970219/diversity-and-complexity-in-chromatin-recognition-by-tfii-i-transcription-factors-in-pluripotent-embryonic-stem-cells-and-embryonic-tissues
#19
Aleksandr V Makeyev, Badam Enkhmandakh, Seung-Hyun Hong, Pujan Joshi, Dong-Guk Shin, Dashzeveg Bayarsaihan
GTF2I and GTF2IRD1 encode a family of closely related transcription factors TFII-I and BEN critical in embryonic development. Both genes are deleted in Williams-Beuren syndrome, a complex genetic disorder associated with neurocognitive, craniofacial, dental and skeletal abnormalities. Although genome-wide promoter analysis has revealed the existence of multiple TFII-I binding sites in embryonic stem cells (ESCs), there was no correlation between TFII-I occupancy and gene expression. Surprisingly, TFII-I recognizes the promoter sequences enriched for H3K4me3/K27me3 bivalent domain, an epigenetic signature of developmentally important genes...
2012: PloS One
https://www.readbyqxmd.com/read/22899722/gtf2ird2-from-the-williams-beuren-critical-region-encodes-a-mobile-element-derived-fusion-protein-that-antagonizes-the-action-of-its-related-family-members
#20
Stephen J Palmer, Kylie M Taylor, Nicole Santucci, Jocelyn Widagdo, Yee-Ka Agnes Chan, Jen-Li Yeo, Merritt Adams, Peter W Gunning, Edna C Hardeman
GTF2IRD2 belongs to a family of transcriptional regulators (including TFII-I and GTF2IRD1) that are responsible for many of the key features of Williams-Beuren syndrome (WBS). Sequence evidence suggests that GTF2IRD2 arose in eutherian mammals by duplication and divergence from the gene encoding TFII-I. However, in GTF2IRD2, most of the C-terminal domain has been lost and replaced by the domesticated remnant of an in-frame hAT-transposon mobile element. In this first experimental analysis of function, we show that transgenic expression of each of the three family members in skeletal muscle causes significant fiber type shifts, but the GTF2IRD2 protein causes an extreme shift in the opposite direction to the two other family members...
November 1, 2012: Journal of Cell Science
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