Human ENC1 Blocking Peptide (CDBP1123) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use

Total Page：16

File Type：pdf, Size：1020Kb

Human ENC1 blocking peptide (CDBP1123) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Product Overview Blocking peptide for anti-ENC-1 antibody Antigen Description This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Nature Synthetic Expression System N/A Species Human Species Reactivity Human Conjugate Unconjugated Applications BL Procedure None Format Liquid Concentration 200 μg/ml Size 50 μg Buffer PBS containing 0.02% sodium azide Preservative 0.02% Sodium Azide Storage Store at -20℃, stable for one year. ANTIGEN GENE INFORMATION Gene Name ENC1 ectodermal-neural cortex 1 (with BTB-like domain) [ Homo sapiens ] Official Symbol ENC1 Synonyms ENC1; ectodermal-neural cortex 1 (with BTB-like domain); NRPB; ectoderm-neural cortex protein 1; ENC 1; kelch like 37 (Drosophila); KLHL37; PIG10; TP53I10; kelch-like 35; kelch-like 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved protein 37; p53-induced gene 10 protein; nuclear matrix protein NRP/B; tumor protein p53 inducible protein 10; nuclear restricted protein, BTB domain-like (brain); CCL28; ENC-1; KLHL35; FLJ39259; FLJ57577; Entrez Gene ID 8507 mRNA Refseq NM_001256574 Protein Refseq NP_001243503 UniProt ID O14682 Chromosome Location 5q13 Function actin binding; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved.

Copy Link

Recommended publications

The Nuclear Matrix Protein, NRP/B, Acts As a Transcriptional Repressor of E2F-Mediated Transcriptional Activity
The Nuclear Matrix Protein, NRP/B, Acts as a Transcriptional Repressor of E2F-mediated Transcriptional Activity The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Choi, Jina, Eun Sung Yang, Kiweon Cha, John Whang, Woo-Jung Choi, Shalom Avraham, and Tae-Aug Kim. 2014. “The Nuclear Matrix Protein, NRP/B, Acts as a Transcriptional Repressor of E2F-mediated Transcriptional Activity.” Journal of Cancer Prevention 19 (3): 187-198. doi:10.15430/JCP.2014.19.3.187. http:// dx.doi.org/10.15430/JCP.2014.19.3.187. Published Version doi:10.15430/JCP.2014.19.3.187 Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:13347533 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA JOURNAL OF CANCER PREVENTION http://dx.doi.org/10.15430/JCP.2014.19.3.187 Vol. 19, No. 3, September, 2014 pISSN 2288-3649ㆍeISSN 2288-3657 The Nuclear Matrix Protein, NRP/B, Acts as a Original Transcriptional Repressor of E2F-mediated Article Transcriptional Activity Jina Choi1*, Eun Sung Yang2*, Kiweon Cha3, John Whang2, Woo-Jung Choi1, Shalom Avraham3, Tae-Aug Kim1,2 1CHA Cancer Institute, CHA University, Seoul, Korea, 2Cancer Cell Biology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA, 3Division of Experimental Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA Background: NRP/B, a family member of the BTB/Kelch repeat proteins, is implicated in neuronal and cancer development, as well as the regulation of oxidative stress responses in breast and brain cancer.
[Show full text]
And Brain-Specific Expression of KLHL Family Genes
International Journal of Molecular Sciences Article Epigenetics of Muscle- and Brain-Specific Expression of KLHL Family Genes Kenneth C. Ehrlich 1, Carl Baribault 2 and Melanie Ehrlich 3,* 1 Center for Biomedical Informatics and Genomics, Tulane University Health Sciences Center, New Orleans, LA 70112, USA; [email protected] 2 Center for Research and Scientific Computing (CRSC), Tulane University Information Technology, Tulane University, New Orleans, LA 70112, USA; [email protected] 3 Center for Biomedical Informatics and Genomics, Tulane Cancer Center, Hayward Genetics Program, Tulane University Health Sciences Center, New Orleans, LA 70112, USA * Correspondence: [email protected]; Tel.: +1-504-939-0916 Received: 16 October 2020; Accepted: 6 November 2020; Published: 9 November 2020 Abstract: KLHL and the related KBTBD genes encode components of the Cullin-E3 ubiquitin ligase complex and typically target tissue-specific proteins for degradation, thereby affecting differentiation, homeostasis, metabolism, cell signaling, and the oxidative stress response. Despite their importance in cell function and disease (especially, KLHL40, KLHL41, KBTBD13, KEAP1, and ENC1), previous studies of epigenetic factors that affect transcription were predominantly limited to promoter DNA methylation. Using diverse tissue and cell culture whole-genome profiles, we examined 17 KLHL or KBTBD genes preferentially expressed in skeletal muscle or brain to identify tissue-specific enhancer and promoter chromatin, open chromatin (DNaseI hypersensitivity), and DNA hypomethylation. Sixteen of the 17 genes displayed muscle- or brain-specific enhancer chromatin in their gene bodies, and most exhibited specific intergenic enhancer chromatin as well. Seven genes were embedded in super-enhancers (particularly strong, tissue-specific clusters of enhancers). The enhancer chromatin regions typically displayed foci of DNA hypomethylation at peaks of open chromatin.
[Show full text]
A High-Throughput Study in Melanoma Identifies Epithelial- Mesenchymal Transition As a Major Determinant of Metastasis
Research Article A High-Throughput Study in Melanoma Identifies Epithelial- Mesenchymal Transition as a Major Determinant of Metastasis Soledad R. Alonso,1 Lorraine Tracey,1 Pablo Ortiz,4 Beatriz Pe´rez-Go´mez,5 Jose´ Palacios,1 Marina Pollań,5 Juan Linares,6 Salvio Serrano,7 Ana I. Saéz-Castillo,6 Lydia Sańchez,2 Raquel Pajares,2 Abel Sańchez-Aguilera,1 Maria J. Artiga,1 Miguel A. Piris,1 and Jose´ L. Rodrı´guez-Peralto3 1Molecular Pathology Programme and 2Histology and Immunohistochemistry Unit, Centro Nacional de Investigaciones Oncolo´gicas; Departments of 3Pathology and 4Dermatology, Hospital Universitario 12 de Octubre; 5Centro Nacional de Epidemiologıá, Instituto de Salud Carlos III, Madrid, Spain; and Departments of 6Pathology and 7Dermatology, Hospital Universitario San Cecilio, Granada, Spain Abstract with a less favorable prognosis as potential candidates for adjuvant Metastatic disease is the primary cause of death in cutaneous or novel therapies. malignant melanoma (CMM) patients. To understand the Currently, the prognosis of primary CMM is mainly based mechanisms of CMM metastasis and identify potential on histopathologic criteria. The most important of these is the predictive markers, we analyzed gene-expression profiles of Breslow index, although it is merely a measure of tumor depth. 34 vertical growth phase melanoma cases using cDNA micro- New molecular markers that correlate with melanoma genesis and/or progression are continuously being identified but, to date, arrays. All patients had a minimum follow-up of 36 months. Twenty-one cases developed nodal metastatic disease and 13 most of them have been obtained in experimental models and did not.
[Show full text]
Spatial Maps of Prostate Cancer Transcriptomes Reveal an Unexplored Landscape of Heterogeneity
ARTICLE DOI: 10.1038/s41467-018-04724-5 OPEN Spatial maps of prostate cancer transcriptomes reveal an unexplored landscape of heterogeneity Emelie Berglund1, Jonas Maaskola1, Niklas Schultz2, Stefanie Friedrich3, Maja Marklund1, Joseph Bergenstråhle1, Firas Tarish2, Anna Tanoglidi4, Sanja Vickovic 1, Ludvig Larsson1, Fredrik Salmeń1, Christoph Ogris3, Karolina Wallenborg2, Jens Lagergren5, Patrik Ståhl1, Erik Sonnhammer3, Thomas Helleday2 & Joakim Lundeberg 1 1234567890():,; Intra-tumor heterogeneity is one of the biggest challenges in cancer treatment today. Here we investigate tissue-wide gene expression heterogeneity throughout a multifocal prostate cancer using the spatial transcriptomics (ST) technology. Utilizing a novel approach for deconvolution, we analyze the transcriptomes of nearly 6750 tissue regions and extract distinct expression profiles for the different tissue components, such as stroma, normal and PIN glands, immune cells and cancer. We distinguish healthy and diseased areas and thereby provide insight into gene expression changes during the progression of prostate cancer. Compared to pathologist annotations, we delineate the extent of cancer foci more accurately, interestingly without link to histological changes. We identify gene expression gradients in stroma adjacent to tumor regions that allow for re-stratification of the tumor micro- environment. The establishment of these profiles is the first step towards an unbiased view of prostate cancer and can serve as a dictionary for future studies. 1 Department of Gene Technology, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology (KTH), Science for Life Laboratory, Tomtebodavägen 23, Solna 17165, Sweden. 2 Department of Oncology-Pathology, Karolinska Institutet (KI), Science for Life Laboratory, Tomtebodavägen 23, Solna 17165, Sweden. 3 Department of Biochemistry and Biophysics, Stockholm University, Science for Life Laboratory, Tomtebodavägen 23, Solna 17165, Sweden.
[Show full text]
Estrogen's Impact on the Specialized Transcriptome, Brain, and Vocal
Estrogen’s Impact on the Specialized Transcriptome, Brain, and Vocal Learning Behavior of a Sexually Dimorphic Songbird by Ha Na Choe Department of Molecular Genetics & Microbiology Duke University Date:_____________________ Approved: ___________________________ Erich D. Jarvis, Supervisor ___________________________ Hiroaki Matsunami ___________________________ Debra Silver ___________________________ Dong Yan ___________________________ Gregory Crawford Dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Molecular Genetics & Microbiology in the Graduate School of Duke University 2020 ABSTRACT Estrogen’s Impact on the Specialized Transcriptome, Brain, and Vocal Learning Behavior of a Sexually Dimorphic Songbird by Ha Na Choe Department of Molecular Genetics & Microbiology Duke University Date:_________________________ Approved: ___________________________ Erich D. Jarvis, Supervisor ___________________________ Hiroaki Matsunami ___________________________ Debra Silver ___________________________ Dong Yan ___________________________ Gregory Crawford Dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Molecular Genetics & Microbiology in the Graduate School of Duke University 2020 Copyright by Ha Na Choe 2020 Abstract The song system of the zebra finch (Taeniopygia guttata) is highly sexually dimorphic, where only males develop the neural structures necessary to learn and produce learned vocalizations
[Show full text]
Gene Section Mini Review
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review ENC1 (ectodermal-neural cortex (with BTB-like domain)) Shalom Avraham, Seyha Seng, Shuxian Jiang, Hava Karsenty Avraham Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, 4 Blackfan Circle, Boston, MA 02115, USA Published in Atlas Database: June 2007 Online updated version: http://AtlasGeneticsOncology.org/Genes/NRPBID40451ch5q12.html DOI: 10.4267/2042/38462 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2008 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Protein Hugo: ENC1 Description Other names: CCL28; ENC-1; NRPB; NRP/B 589AA and 66130 Da. NRP/B/ENC1 is a member of a (Nuclear Matrix Restricted Protein/Brain); PIG10; growing family of proteins that contains two major TP53I10 structural elements: A BTB/POZ domain in the N- Location: 5q12-13 terminus and kelch motif in the C-terminus [See above]. The BTB/POZ domain, consisting of approximately 115 amino acids is found in several members of the kelch family. It is involved in protein- protein interactions and mediates both dimer and heterodimer formation. The kelch domain includes six repeats (each containing about 50 amino acids), which are implicated in actin binding, protein folding and/or protein-protein interactions. NRP/B/ENC1 encodes an unusually evolutionarily conserved protein between mouse and human. Expression NRP/B/ENC1 is expressed in the nervous system. NRP/B/ENC1 is expressed mostly in primary neurons, but not in primary astrocytes. NRP/B/ENC1 mRNA Mapping of human NRP/B/ENC1 to 5q12-13: Chromosome 5 and protein expression were detected abundantly and content of each hybrid is shown as a solid bar.
[Show full text]
Supplementary Materials
Supplementary Materials 1 Supplementary Figure S1. Expression of BPIFB4 in murine hearts. Representative immunohistochemistry images showing the expression of BPIFB4 in the left ventricle of non-diabetic mice (ND) and diabetic mice (Diab) given vehicle or LAV-BPIFB4. BPIFB4 is shown in green, nuclei are identified by the blue fluorescence of DAPI. Scale bars: 1 mm and 100 μm. 2 Supplementary Table S1 – List of PCR primers. Target gene Primer Sequence NCBI Accession number / Reference Forward AAGTCCCTCACCCTCCCAA Actb [1] Reverse AAGCAATGCTGTCACCTTC Forward TCTAGGCAATGCCGTTCAC Cpt1b [2] Reverse GAGCACATGGGCACCATAC Forward GGAAATGATCAACAAAAAAAGAAGTATTT Acadm (Mcad) [2] Reverse GCCGCCACATCAGA Forward TGATGGTTTGGAGGTTGGGG Acot1 NM_012006.2 Reverse TGAAACTCCATTCCCAGCCC Forward GGTGTCCCGTCTAATGGAGA Hmgcs2 NM_008256.4 Reverse ACACCCAGGATTCACAGAGG Forward CAAGCAGCAACATGGGAAGA Cs [2] Reverse GTCAGGATCAAGAACCGAAGTCT Forward GCCATTGTCAACTGTGCTGA Ucp3 NM_009464.3 Reverse TCCTGAGCCACCATCTTCAG Forward CGTGAGGGCAATGATTTATACCAT Atp5b [2] Reverse TCCTGGTCTCTGAAGTATTCAGCAA Pdk4 Forward CCGCTGTCCATGAAGCA [2] 3 Reverse GCAGAAAAGCAAAGGACGTT Forward AGAGTCCTATGCAGCCCAGA Tomm20 NM_024214.2 Reverse CAAAGCCCCACATCTGTCCT Forward GCCTCAGATCGTCGTAGTGG Drp1 NM_152816.3 Reverse TTCCATGTGGCAGGGTCATT Forward GGGAAGGTGAAGAAGCTTGGA Mfn2 NM_001285920.1 Reverse ACAACTGGAACAGAGGAGAAGTT Forward CGGAAATCATATCCAACCAG [2] Ppargc1a (Pgc1α) Reverse TGAGAACCGCTAGCAAGTTTG Forward AGGCTTGGAAAAATCTGTCTC [2] Tfam Reverse TGCTCTTCCCAAGACTTCATT Forward TGCCCCAGAGCTGTTAATGA Bcl2l1 NM_001289716.1
[Show full text]
Genetic Architecture Distinguishes Systemic Juvenile Idiopathic Arthritis
Ann Rheum Dis: first published as 10.1136/annrheumdis-2016-210324 on 7 December 2016. Downloaded from Basic and translational research EXTENDED REPORT Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications Michael J Ombrello,1 Victoria L Arthur,1 Elaine F Remmers,2 Anne Hinks,3 Ioanna Tachmazidou,4 Alexei A Grom,5,6 Dirk Foell,7 Alberto Martini,8,9 Marco Gattorno,9 Seza Özen,10 Sampath Prahalad,11,12 Andrew S Zeft,13 John F Bohnsack,14 Norman T Ilowite,15 Elizabeth D Mellins,16 Ricardo Russo,17 Claudio Len,18 Maria Odete E Hilario,18 Sheila Oliveira,19 Rae S M Yeung,20,21,22 Alan M Rosenberg,23 Lucy R Wedderburn,24,25 Jordi Anton,26 Johannes-Peter Haas,27 Angela Rosen-Wolff,28 Kirsten Minden,29,30 Klaus Tenbrock,31 Erkan Demirkaya,10 Joanna Cobb,3,32 Elizabeth Baskin,1 Sara Signa,8 Emily Shuldiner,1 Richard H Duerr,33,34 Jean-Paul Achkar,35,36 M Ilyas Kamboh,34 Kenneth M Kaufman,5,6 Leah C Kottyan,5,6 Dalila Pinto,37 Stephen W Scherer,38 Marta E Alarcón-Riquelme,39,40 Elisa Docampo,41,42 Xavier Estivill,42,43 Ahmet Gül,44 British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Handling editor Tore K Kvien Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study ► Additional material is published online only. To view of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to please visit the journal online Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (http:// dx.
[Show full text]
Mining Unknown Porcine Protein Isoforms by Tissue-Based Map Of
bioRxiv preprint doi: https://doi.org/10.1101/391466; this version posted August 14, 2018. 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. 1 Mining unknown porcine protein isoforms by tissue-based map of 2 proteome enhances the pig genome annotation 3 4 Pengju Zhao1†, Xianrui Zheng1†, Ying Yu1, Zhuocheng Hou1, Chenguang Diao1, Haifei Wang1, 5 Huimin Kang1, Chao Ning1, Junhui Li1, Wen Feng1, Wen Wang2, George E. Liu3, Bugao Li4, 6 Jacqueline Smith5, Yangzom Chamba6, Jian-Feng Liu1* 7 8 1National Engineering Laboratory for Animal Breeding; Key Laboratory of Animal Genetics, 9 Breeding and Reproduction, Ministry of Agriculture; College of Animal Science and Technology, 10 China Agricultural University, Beijing, 100193, China. 11 2Center for Ecological and Environmental Sciences, Northwestern Polytechnical University, Xi’ 12 an, 710072, China. 13 3Animal Genomics and Improvement Laboratory, BARC, USDA-ARS, USA. 14 4Department of Animal Sciences and Veterinary Medicine, Shanxi Agricultural University, Taigu, 15 030801, China 16 5The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, 17 UK 18 6Tibet Agriculture and Animal Husbandry College, Linzhi, Tibet 860000, China 19 20 *Corresponding author: 21 Jian-Feng Liu, Ph.D. 22 China Agricultural University (West Campus) 23 College of Animal Science and Technology 24 Room 455 25 2 Yuanmingyuan West Road, Beijing 100193, China 26 Phone No.: +86-10-62731921 27 E-mail: [email protected] 28 29 †These authors contributed equally to this work. 30 31 32 1 bioRxiv preprint doi: https://doi.org/10.1101/391466; this version posted August 14, 2018.
[Show full text]
A Comparative Study of Endoderm Differentiation in Humans and Chimpanzees Lauren E
Blake et al. Genome Biology (2018) 19:162 https://doi.org/10.1186/s13059-018-1490-5 RESEARCH Open Access A comparative study of endoderm differentiation in humans and chimpanzees Lauren E. Blake1†, Samantha M. Thomas1†, John D. Blischak1, Chiaowen Joyce Hsiao1, Claudia Chavarria1, Marsha Myrthil1, Yoav Gilad1,2,3* and Bryan J. Pavlovic1 Abstract Background: There is substantial interest in the evolutionary forces that shaped the regulatory framework in early human development. Progress in this area has been slow because it is difficult to obtain relevant biological samples. Induced pluripotent stem cells (iPSCs) may provide the ability to establish in vitro models of early human and non-human primate developmental stages. Results: Using matched iPSC panels from humans and chimpanzees, we comparatively characterize gene regulatory changes through a four-day time course differentiation of iPSCs into primary streak, endoderm progenitors, and definitive endoderm. As might be expected, we find that differentiation stage is the major driver of variation in gene expression levels, followed by species. We identify thousands of differentially expressed genes between humans and chimpanzees in each differentiation stage. Yet, when we consider gene-specific dynamic regulatory trajectories throughout the time course, we find that at least 75% of genes, including nearly all known endoderm developmental markers, have similar trajectories in the two species. Interestingly, we observe a marked reduction of both intra- and inter-species variation in gene expression levels in primitive streak samples compared to the iPSCs, with a recovery of regulatory variation in endoderm progenitors. Conclusions: The reduction of variation in gene expression levels at a specific developmental stage, paired with overall high degree of conservation of temporal gene regulation, is consistent with the dynamics of a conserved developmental process.
[Show full text]
Census and Evaluation of P53 Target Genes
OPEN Oncogene (2017) 36, 3943–3956 www.nature.com/onc REVIEW Census and evaluation of p53 target genes M Fischer1,2,3 The tumor suppressor p53 functions primarily as a transcription factor. Mutation of the TP53 gene alters its response pathway, and is central to the development of many cancers. The discovery of a large number of p53 target genes, which confer p53’s tumor suppressor function, has led to increasingly complex models of p53 function. Recent meta-analysis approaches, however, are simplifying our understanding of how p53 functions as a transcription factor. In the survey presented here, a total set of 3661 direct p53 target genes is identified that comprise 3509 potential targets from 13 high-throughput studies, and 346 target genes from individual gene analyses. Comparison of the p53 target genes reported in individual studies with those identified in 13 high- throughput studies reveals limited consistency. Here, p53 target genes have been evaluated based on the meta-analysis data, and the results show that high-confidence p53 target genes are involved in multiple cellular responses, including cell cycle arrest, DNA repair, apoptosis, metabolism, autophagy, mRNA translation and feedback mechanisms. However, many p53 target genes are identified only in a small number of studies and have a higher likelihood of being false positives. While numerous mechanisms have been proposed for mediating gene regulation in response to p53, recent advances in our understanding of p53 function show that p53 itself is solely an activator of transcription, and gene downregulation by p53 is indirect and requires p21. Taking into account the function of p53 as an activator of transcription, recent results point to an unsophisticated means of regulation.
[Show full text]
Large-Scale Neuroanatomical Study Uncovers 198 Gene Associations in Mouse Brain Morphogenesis
ARTICLE https://doi.org/10.1038/s41467-019-11431-2 OPEN Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis Stephan C. Collins1,2,3,4,5,12, Anna Mikhaleva6,12, Katarina Vrcelj7,12, Valerie E. Vancollie 8,12, Christel Wagner1,2,3,4, Nestor Demeure1,2,3,4, Helen Whitley1,2,3,4, Meghna Kannan 1,2,3,4, Rebecca Balz6, Lauren F.E. Anthony8, Andrew Edwards9,10, Hervé Moine1,2,3,4, Jacqueline K. White8, David J. Adams8, Alexandre Reymond6, Christopher J. Lelliott 8, Caleb Webber7,11 & Binnaz Yalcin 1,2,3,4,6 1234567890():,; Brain morphogenesis is an important process contributing to higher-order cognition, however our knowledge about its biological basis is largely incomplete. Here we analyze 118 neu- roanatomical parameters in 1,566 mutant mouse lines and identify 198 genes whose disruptions yield NeuroAnatomical Phenotypes (NAPs), mostly affecting structures impli- cated in brain connectivity. Groups of functionally similar NAP genes participate in pathways involving the cytoskeleton, the cell cycle and the synapse, display distinct fetal and postnatal brain expression dynamics and importantly, their disruption can yield convergent phenotypic patterns. 17% of human unique orthologues of mouse NAP genes are known loci for cognitive dysfunction. The remaining 83% constitute a vast pool of genes newly implicated in brain architecture, providing the largest study of mouse NAP genes and pathways. This offers a complementary resource to human genetic studies and predict that many more genes could be involved in mammalian brain morphogenesis. 1 Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.
[Show full text]