Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
| العنوان: | Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects |
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| المؤلفون: | Hane Lee, Carine Bonnard, Ascia Eskin, Stanley F. Nelson, Mohammed Al-Raqad, Valerio Taverniti, Samah Al-Tawalbeh, Mohammad Shboul, Calista Keow Leng Ng, Bruno Reversade, Bertrand Séraphin |
| المساهمون: | Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Reproductive Medicine |
| المصدر: | Human molecular genetics Human molecular genetics online, 2015, 24 (11), pp.3163-3171. ⟨10.1093/hmg/ddv067⟩ Human Molecular Genetics Human molecular genetics, 24(11), 3163-3171. Oxford University Press |
| بيانات النشر: | HAL CCSD, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, DCPS, DNA Mutational Analysis, Biology, medicine.disease_cause, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Intellectual Disability, Gene expression, Endoribonucleases, Genetics, medicine, Humans, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Child, Molecular Biology, Genetics (clinical), Cells, Cultured, Genetic Association Studies, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Mutation, Messenger RNA, Catabolism, RNA, General Medicine, Syndrome, Articles, Pedigree, Enzyme, chemistry, Child, Preschool, Muscle Hypotonia, RNA Splice Sites, 030217 neurology & neurosurgery |
| الوصف: | mRNA decay is an essential and active process that allows cells to continuously adapt gene expression to internal and environmental cues. There are two mRNA degradation pathways: 3' to 5' and 5' to 3'. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of the 3' end mRNA decay pathway. We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects. Using patient's primary cells, we show that this homozygous splice mutation results in a DCPS loss-of-function allele. Diagnostic biochemical analyses using various m(7)G cap derivatives as substrates reveal no DCPS enzymatic activity in patient's cells. Our results implicate DCPS and more generally RNA catabolism, as a critical cellular process for neurological development, normal cognition and organismal homeostasis in humans |
| اللغة: | English |
| تدمد: | 1460-2083 0964-6906 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a5d5953d18d7724b2559c1d913d987Test https://hal.archives-ouvertes.fr/hal-02179565Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....20a5d5953d18d7724b2559c1d913d987 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14602083 09646906 |
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