VCX3A Polyclonal Antibody (A01) Once in Y-Linked Members

Total Page：16

File Type：pdf, Size：1020Kb

VCX3A polyclonal antibody (A01) once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different Catalog Number: H00051481-A01 individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins Regulatory Status: For research use only (RUO) of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y Product Description: Mouse polyclonal antibody raised members are nuclear proteins. This gene contains 8 against a partial recombinant VCX3A. repeats of the 30-bp unit. [provided by RefSeq] Immunogen: VCX3A (NP_057463, 2 a.a. ~ 100 a.a) partial recombinant protein with GST tag. Sequence: SPKPRASGPPAKATEAGKRKSSSQPSPSDPKKKTTKV AKKGKAVRRGRRGKKGAATKMAAVTAPEAESGPAAP GPSDQPSQELPQHELPPEEPVSEGTQ Host: Mouse Reactivity: Human Applications: ELISA, WB-Re (See our web site product page for detailed applications information) Protocols: See our web site at http://www.abnova.com/support/protocols.asp or product page for detailed protocols Storage Buffer: 50 % glycerol Storage Instruction: Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. Entrez GeneID: 51481 Gene Symbol: VCX3A Gene Alias: MGC118976, MGC125730, MGC125796, VCX-8r, VCX-A, VCX3, VCX8R, VCXA Gene Summary: This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only Page 1/1 Powered by TCPDF (www.tcpdf.org).

Copy Link

Recommended publications

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: a Case Report
IJMS Vol 44, No 4, July 2019 Case Report Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report Estephania Candelo1, MD, MSc; Abstract Diana Ramirez-Montaño1, MD, MSc; Harry Pachajoa1,2, MD, PhD Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the 1Center for Research on Congenital MECP2 gene, which is located on the X chromosome. However, Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, this syndrome has also been associated with microdeletions, gene L Building, Universidad Icesi, Cali, translocations, and other gene mutations. A 12-year-old female Colombia; Colombian patient was presented with refractory epilepsy and 2Department of Genetics, Fundación Valle del Lili, Cali, Colombia regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum Correspondence: Harry Pachajoa, MD, PhD; disorder criteria). The patient was born to non-consanguineous Center for Research on Congenital parents and had an early normal development until the age of 36 Anomalies and Rare Diseases months. Comparative genomic hybridization array-CGH (750K) (CIACER), Health Sciences Faculty, L Building, ZIP: 760031, Universidad Icesi, was performed and Xp22.31 duplication was detected (6866889- Cali, Colombia 8115153) with a size of 1.248 Mb associated with developmental Tel: +57 2 5552334, Ext: 8075 delay, epilepsy, and autistic traits. Given the clinical criteria of Fax: +57 2 5551441 Email: [email protected] RS, MECP2 sequencing was performed which showed a de novo Received: 03 June 2018 pathogenic variant c.338C>G (p.Pro113Arg).
[Show full text]
OTX2 Homeoprotein Functions in Adult Choroid Plexus
bioRxiv preprint doi: https://doi.org/10.1101/2021.04.28.441734; this version posted April 28, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. OTX2 homeoprotein functions in adult choroid plexus Anabelle Planques1†, Vanessa Oliveira Moreira1†, David Benacom1, Clémence Bernard1, Laurent Jourdren2, Corinne Blugeon2, Florent Dingli3, Vanessa Masson3, Damarys Loew3, Alain Prochiantz1,4, Ariel A. Di Nardo1* 1. Centre for Interdisciplinary Research in Biology (CIRB), Collège de France, CNRS UMR7241, INSERM U1050, Labex MemoLife, PSL University, Paris, France 2. Genomics Core Facility, Institut de Biologie de l’ENS (IBENS), Département de Biologie, École Normale Supérieure, CNRS, INSERM, PSL University, 75005 Paris, France 3. Institut Curie, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, 75248 Paris Cedex 05, France 4. Institute of Neurosciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai, 200031, China †contributed equally *corresponding author: [email protected] Abstract Choroid plexus secretes cerebrospinal fluid important for brain development and homeostasis. The OTX2 homeoprotein is critical for choroid plexus development and remains highly expressed in adult choroid plexus. Through RNA sequencing analyses of constitutive and conditional knockdown adult mouse models, we reveal putative roles for OTX2 in choroid plexus function, including cell signaling and adhesion, and show that it regulates the expression of factors secreted into cerebrospinal fluid, notably transthyretin. We show that Otx2 expression impacts choroid plexus immune and stress responses, and also affects splicing which leads to changes in mRNA isoforms of proteins implicated in oxidative stress response and DNA repair.
[Show full text]
Identification of Novel Genes for X-Linked Mental Retardation
20.\o. ldent¡f¡cat¡on of Novel Genes for X-linked Mental Retardation Adelaide A thesis submitted for the degree of Dootor of Philosophy to the University of by Marie Mangelsdorf BSc (Hons) School ofMedicine Department of Paediatrics, Women's and Children's Hospital May 2003 Corrections The following references should be referred to in the text as: Page 2,line 2: (Birch et al., 1970) Page 2,line 2: (Moser et al., 1983) Page 3, line 15: (Martin and Bell, 1943) Page 3, line 4 and line 9: (Stevenson et a1.,2000) Page 77,line 5: (Monaco et a|.,1986) And in the reference list as: Birch H. G., Richardson S. ,{., Baird D., Horobin, G. and Ilsley, R. (1970) Mental Subnormality in the Community: A Clinical and Epidemiological Study. Williams and Wilkins, Baltimore. Martin J. P. and Bell J. (1943). A pedigree of mental defect showing sex-linkage . J. Neurol. Psychiatry 6: 154. Monaco 4.P., Nerve R.L., Colletti-Feener C., Bertelson C.J., Kurnit D.M. and Kunkel L.M. (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 3232 646-650. Moser H.W., Ramey C.T. and Leonard C.O. (1933) In Principles and Practice of Medical Genetics (Emery A.E.H. and Rimoin D.L., Eds). Churchill Livingstone, Edinburgh UK Penrose L. (1938) A clinical and genetic study of 1280 cases of mental defect. (The Colchester survey). Medical Research Council, London, UK. Stevenson R.E., Schwartz C.E. and Schroer R.J. (2000) X-linked Mental Retardation. Oxford University Press.
[Show full text]
A Transcriptional Signature of Postmitotic Maintenance in Neural Tissues
Neurobiology of Aging 74 (2019) 147e160 Contents lists available at ScienceDirect Neurobiology of Aging journal homepage: www.elsevier.com/locate/neuaging Postmitotic cell longevityeassociated genes: a transcriptional signature of postmitotic maintenance in neural tissues Atahualpa Castillo-Morales a,b, Jimena Monzón-Sandoval a,b, Araxi O. Urrutia b,c,*, Humberto Gutiérrez a,** a School of Life Sciences, University of Lincoln, Lincoln, UK b Milner Centre for Evolution, Department of Biology and Biochemistry, University of Bath, Bath, UK c Instituto de Ecología, Universidad Nacional Autónoma de México, Ciudad de México, Mexico article info abstract Article history: Different cell types have different postmitotic maintenance requirements. Nerve cells, however, are Received 11 April 2018 unique in this respect as they need to survive and preserve their functional complexity for the entire Received in revised form 3 October 2018 lifetime of the organism, and failure at any level of their supporting mechanisms leads to a wide range of Accepted 11 October 2018 neurodegenerative conditions. Whether these differences across tissues arise from the activation of Available online 19 October 2018 distinct cell typeespeciﬁc maintenance mechanisms or the differential activation of a common molecular repertoire is not known. To identify the transcriptional signature of postmitotic cellular longevity (PMCL), Keywords: we compared whole-genome transcriptome data from human tissues ranging in longevity from 120 days Neural maintenance Cell longevity to over 70 years and found a set of 81 genes whose expression levels are closely associated with Transcriptional signature increased cell longevity. Using expression data from 10 independent sources, we found that these genes Functional genomics are more highly coexpressed in longer-living tissues and are enriched in speciﬁc biological processes and transcription factor targets compared with randomly selected gene samples.
[Show full text]
Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest". Contributions above EUR 10 000.- per year are considered "Significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A.
[Show full text]
Copy Number Gain of VCX, X-Linked Multi-Copy Gene, Leads to Cell Proliferation and Apoptosis During Spermatogenesis
www.impactjournals.com/oncotarget/ Oncotarget, Vol. 7, No. 48 Research Paper Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis Juan Ji1,2,4,*, Yufeng Qin3,*, Rong Wang5,*, Zhenyao Huang1,2, Yan Zhang1,2, Ran Zhou1,2, Ling Song1,2, Xiufeng Ling4, Zhibin Hu1,6, Dengshun Miao1,5, Hongbing Shen1,6, Yankai Xia1,2, Xinru Wang1,2, Chuncheng Lu1,2 1State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China 2Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China 3Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA 4Department of Children Health Care, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing, China 5Research Center for Bone and Stem Cells, Department of Anatomy, Histology, and Embryology, Nanjing Medical University, Nanjing, China 6Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China *These authors contributed equally to this work and joint first authors Correspondence to: Chuncheng Lu, email: [email protected] Keywords: copy number variations, non-obstructive azoospermia Received: April 08, 2016 Accepted: September 25, 2016 Published: October 01, 2016 ABSTRACT Male factor infertility affects one-sixth of couples worldwide, and non-obstructive azoospermia (NOA) is one of the most severe forms. In recent years there has been increasing evidence to implicate the participation of X chromosome in the process of spermatogenesis.
[Show full text]
Sequence Analysis in Bos Taurus Reveals Pervasiveness of X–Y Arms Races in Mammalian Lineages
Downloaded from genome.cshlp.org on September 23, 2021 - Published by Cold Spring Harbor Laboratory Press Research Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages Jennifer F. Hughes,1 Helen Skaletsky,1,2 Tatyana Pyntikova,1 Natalia Koutseva,1 Terje Raudsepp,3 Laura G. Brown,1,2 Daniel W. Bellott,1 Ting-Jan Cho,1 Shannon Dugan-Rocha,4 Ziad Khan,4 Colin Kremitzki,5 Catrina Fronick,5 Tina A. Graves-Lindsay,5 Lucinda Fulton,5 Wesley C. Warren,5,7 Richard K. Wilson,5,8 Elaine Owens,3 James E. Womack,3 William J. Murphy,3 Donna M. Muzny,4 Kim C. Worley,4 Bhanu P. Chowdhary,3,9 Richard A. Gibbs,4 and David C. Page1,2,6 1Whitehead Institute, Cambridge, Massachusetts 02142, USA; 2Howard Hughes Medical Institute, Whitehead Institute, Cambridge, Massachusetts 02142, USA; 3College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas 77843, USA; 4Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; 5The McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63108, USA; 6Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA Studies of Y Chromosome evolution have focused primarily on gene decay, a consequence of suppression of crossing-over with the X Chromosome. Here, we provide evidence that suppression of X–Y crossing-over unleashed a second dynamic: selfish X–Y arms races that reshaped the sex chromosomes in mammals as different as cattle, mice, and men. Using su- per-resolution sequencing, we explore the Y Chromosome of Bos taurus (bull) and find it to be dominated by massive, lin- eage-specific amplification of testis-expressed gene families, making it the most gene-dense Y Chromosome sequenced to date.
[Show full text]
Characterizing Genomic Duplication in Autism Spectrum Disorder by Edward James Higginbotham a Thesis Submitted in Conformity
Characterizing Genomic Duplication in Autism Spectrum Disorder by Edward James Higginbotham A thesis submitted in conformity with the requirements for the degree of Master of Science Graduate Department of Molecular Genetics University of Toronto © Copyright by Edward James Higginbotham 2020 i Abstract Characterizing Genomic Duplication in Autism Spectrum Disorder Edward James Higginbotham Master of Science Graduate Department of Molecular Genetics University of Toronto 2020 Duplication, the gain of additional copies of genomic material relative to its ancestral diploid state is yet to achieve full appreciation for its role in human traits and disease. Challenges include accurately genotyping, annotating, and characterizing the properties of duplications, and resolving duplication mechanisms. Whole genome sequencing, in principle, should enable accurate detection of duplications in a single experiment. This thesis makes use of the technology to catalogue disease relevant duplications in the genomes of 2,739 individuals with Autism Spectrum Disorder (ASD) who enrolled in the Autism Speaks MSSNG Project. Fine-mapping the breakpoint junctions of 259 ASD-relevant duplications identified 34 (13.1%) variants with complex genomic structures as well as tandem (193/259, 74.5%) and NAHR- mediated (6/259, 2.3%) duplications. As whole genome sequencing-based studies expand in scale and reach, a continued focus on generating high-quality, standardized duplication data will be prerequisite to addressing their associated biological mechanisms. ii Acknowledgements I thank Dr. Stephen Scherer for his leadership par excellence, his generosity, and for giving me a chance. I am grateful for his investment and the opportunities afforded me, from which I have learned and benefited. I would next thank Drs.
[Show full text]
An Isolated TCR Αβ Restricted by HLA-A*02:01/CT37 Peptide Redirecting
An Isolated TCR αβ Restricted by HLA-A*02:01/CT37 Peptide Redirecting CD8+ T Cells To Kill and Secrete IFN-γ in Response to Lung Adenocarcinoma Cell This information is current as Lines of September 29, 2021. Pedro O. Flores-Villanueva, Malathesha Ganachari, Heinner Guio, Jaime A. Mejia and Julio Granados J Immunol 2018; 200:2965-2977; Prepublished online 19 March 2018; Downloaded from doi: 10.4049/jimmunol.1701054 http://www.jimmunol.org/content/200/8/2965 http://www.jimmunol.org/ Supplementary http://www.jimmunol.org/content/suppl/2018/03/17/jimmunol.170105 Material 4.DCSupplemental References This article cites 29 articles, 9 of which you can access for free at: http://www.jimmunol.org/content/200/8/2965.full#ref-list-1 Why The JI? Submit online. by guest on September 29, 2021 • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Author Choice Freely available online through The Journal of Immunology Author Choice option Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2018 by The American Association of Immunologists, Inc. All rights reserved.
[Show full text]
PDZD7-MYO7A Complex Identified in Enriched Stereocilia Membranes
RESEARCH ARTICLE PDZD7-MYO7A complex identified in enriched stereocilia membranes Clive P Morgan1†, Jocelyn F Krey1†, M’hamed Grati2, Bo Zhao3, Shannon Fallen1, Abhiraami Kannan-Sundhari2, Xue Zhong Liu2, Dongseok Choi4,5, Ulrich Mu¨ ller3, Peter G Barr-Gillespie1* 1Oregon Hearing Research Center and Vollum Institute, Oregon Health and Science University, Portland, United States; 2Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, United States; 3Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, United States; 4OHSU-PSU School of Public Health, Oregon Health and Science University, Portland, United States; 5Graduate School of Dentistry, Kyung Hee University, Seoul, Korea Abstract While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear, a challenge has been to link these genes into molecular pathways. One example is Myo7a (myosin VIIA), in which deafness mutations affect the development and function of the mechanically sensitive stereocilia of hair cells. We describe here a procedure for the isolation of low-abundance protein complexes from stereocilia membrane fractions. Using this procedure, combined with identification and quantitation of proteins with mass spectrometry, we demonstrate that MYO7A forms a complex with PDZD7, a paralog of USH1C and DFNB31. MYO7A and PDZD7 interact in tissue-culture cells, and co-localize to the ankle-link region of stereocilia in wild-type but not Myo7a mutant mice. Our data thus describe a new paradigm for *For correspondence: gillespp@ the interrogation of low-abundance protein complexes in hair cell stereocilia and establish an ohsu.edu unanticipated link between MYO7A and PDZD7.
[Show full text]
Whole Exome Sequencing in Recurrent Early Pregnancy Loss
Molecular Human Reproduction, Vol.22, No.5 pp. 364–372, 2016 Advanced Access publication on January 28, 2016 doi:10.1093/molehr/gaw008 ORIGINAL RESEARCH Whole exome sequencing in recurrent early pregnancy loss Ying Qiao1, Jiadi Wen2, Flamingo Tang1,SallyMartell1, Naomi Shomer1, Peter C.K. Leung3, Mary D. Stephenson4, and Evica Rajcan-Separovic1,* 1Department of Pathology, BC Child and Family Research Institute (CFRI), University of British Columbia (UBC), Vancouver, BC, Canada 2University of Texas, Dallas, TX, USA 3Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada V6Z 2 K5 4University of Chicago and University of Illinois at Chicago, Chicago, IL, USA *Correspondence address. Department of Pathology (Cytogenetics), BC Child and Family Research Institute, University of British Columbia, 950 West 28th, Room 3060, Vancouver, BC, Canada V5Z 4H4. Tel: +1-604-875-3121; Fax: +1-604-875-3601; E-mail: [email protected] Submitted on December 11, 2015; resubmitted on January 18, 2016; accepted on January 25, 2016 study hypothesis: Exome sequencing can identify genetic causes of idiopathic recurrent pregnancy loss (RPL). study ﬁnding: We identiﬁed compound heterozygous deleterious mutations affecting DYNC2H1 and ALOX15 in two out of four families with RPL. Both genes have a role in early development. Bioinformatics analysis of all genes with rare and putatively pathogenic mutations in mis- carriages and couples showed enrichment in pathways relevant to pregnancy loss, including the complement and coagulation cascades pathways. what is known already: Next generation sequencing (NGS) is increasingly being used to identify known and novel gene mutations in children with developmental delay and in fetuses with ultrasound-detected anomalies.
[Show full text]
Sex-Specific Selection on the Human X Chromosome?
Genet. Res., Camb. (2004), 83, pp. 169–176. With 3 figures. f 2004 Cambridge University Press 169 DOI: 10.1017/S0016672304006858 Printed in the United Kingdom Sex-specific selection on the human X chromosome? PATRICIA BALARESQUE1,2*, BRUNO TOUPANCE1, QUINTANA-MURCI LLUIS3, BRIGITTE CROUAU-ROY2 AND EVELYNE HEYER1* 1 Unite´ Eco-Anthropologie MNHN/CNRS/P7 UMR5145, Paris, France 2 Laboratoire Evolution et Diversite´ Biologique, Toulouse, France 3 CNRS URA1961, Institut Pasteur, Paris, France (Received 12 August 2003 and in revised form 12 March 2004) Summary Genes involved in major biological functions, such as reproductive or cognitive functions, are choice targets for natural selection. However, the extent to which these genes are affected by selective pressures remains undefined. The apparent clustering of these genes on sex chromosomes makes this genomic region an attractive model system to study the effects of evolutionary forces. In the present study, we analysed the genetic diversity of a X-linked microsatellite in 1410 X-chromosomes from 10 different human populations. Allelic frequency distributions revealed an unexpected discrepancy between the sexes. By evaluating the different scenarios that could have led to this pattern, we show that sex-specific selection on the tightly linked VCX gene could be the most likely cause of such a distortion. 1. Introduction 2001; Saifi & Chandra, 1999) and in cognitive func- tions (Gećz & Mulley, 2000; Hurst & Randerson, Natural selection is one of the main forces shaping the 1999; Graves & Delbridge, 2001) may be potential tar- patterns of genetic variability in the human genome, get for natural selection. However, the precise extent although its role has been often neglected in most to which these genes are affected by selective pressures, population genetics studies.
[Show full text]