دورية أكاديمية
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
| العنوان: | Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. |
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| المؤلفون: | Kim S; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Scanlon VA; Department of Biology, The Catholic University of America, Washington, DC 20064, USA., Chandra A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Hansen TJ; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Alsubait A; Department of Biology, The Catholic University of America, Washington, DC 20064, USA., Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., McGowan SJ; Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Lord H; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK., Lester T; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK., Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool L8 7SS, UK., Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool L8 7SS, UK., Cox H; Clinical Genetics Unit, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Golden A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Corsi AK; Department of Biology, The Catholic University of America, Washington, DC 20064, USA. |
| المصدر: | Human molecular genetics [Hum Mol Genet] 2017 Jun 01; Vol. 26 (11), pp. 2118-2132. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992- |
| مواضيع طبية MeSH: | Nuclear Proteins/*metabolism , Repressor Proteins/*metabolism , Twist-Related Protein 1/*metabolism, Abnormalities, Multiple ; Acrocephalosyndactylia ; Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Base Sequence/genetics ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Child ; Child, Preschool ; Disease Models, Animal ; Eye Abnormalities ; Haploinsufficiency ; Helix-Loop-Helix Motifs ; Humans ; Macrostomia ; Male ; Mutation ; Nuclear Proteins/genetics ; Phenotype ; Protein Domains/genetics ; Repressor Proteins/genetics ; Transcription Factors/genetics ; Twist-Related Protein 1/genetics |
| مستخلص: | Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations. Although about one hundred different TWIST1 mutations have been reported in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the Glu117 codon were not observed previously. Recently, subjects with Barber-Say and Ablepharon-Macrostomia syndromes were found to harbor heterozygous missense substitutions in the paralogous glutamic acid residue in TWIST2 (p.Glu75Ala, p.Glu75Gln and p.Glu75Lys). To study systematically the effects of these substitutions in individual cells of the developing mesoderm, we engineered all five disease-associated alleles into the equivalent Glu29 residue encoded by hlh-8, the single Twist homolog present in Caenorhabditis elegans. This allelic series revealed that different substitutions exhibit graded severity, in terms of both gene expression and cellular phenotype, which we incorporate into a model explaining the various human disease phenotypes. The genetic analysis favors a predominantly dominant-negative mechanism for the action of amino acid substitutions at this highly conserved glutamic acid residue and illustrates the value of systematic mutagenesis of C. elegans for focused investigation of human disease processes. (Published by Oxford University Press 2017. This work is written by US Government employees and is in the public domain in the US.) |
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| معلومات مُعتمدة: | 093329 United Kingdom WT_ Wellcome Trust; G0902418 United Kingdom MRC_ Medical Research Council; P40 OD010440 United States OD NIH HHS; R15 DE018519 United States DE NIDCR NIH HHS; 102731 United Kingdom WT_ Wellcome Trust; MC_UU_12025 United Kingdom MRC_ Medical Research Council; 102731/Z/13/Z United Kingdom WT_ Wellcome Trust; United Kingdom WT_ Wellcome Trust |
| المشرفين على المادة: | 0 (Nuclear Proteins) 0 (Repressor Proteins) 0 (TWIST1 protein, human) 0 (TWIST2 protein, human) 0 (Transcription Factors) 0 (Twist-Related Protein 1) |
| SCR Disease Name: | Ablepharon macrostomia syndrome |
| تواريخ الأحداث: | Date Created: 20170404 Date Completed: 20171017 Latest Revision: 20231115 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC5438873 |
| DOI: | 10.1093/hmg/ddx107 |
| PMID: | 28369379 |
| قاعدة البيانات: | MEDLINE |
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