Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
| العنوان: | Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia |
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| المؤلفون: | Riika Salmela, Katarina Pelin, Albert de la Chapelle, Outi Mäkitie, Ilkka Kaitila, Hans van Eenennaam, Robert B. Chadwick, Susanna Rockas, Ger J. M. Pruijn, Cheryl K. Johnson, Bo Yuan, Walther J. vanVenrooij, Maaret Ridanpää |
| المصدر: | Cell, 104, 195-203 Karolinska Institutet Cell, 104, 2, pp. 195-203 |
| بيانات النشر: | Elsevier BV, 2001. |
| سنة النشر: | 2001 |
| مصطلحات موضوعية: | Genetic Markers, Mitochondrial RNA processing, DNA Mutational Analysis, Molecular Sequence Data, Endoribonuclease, Biology, Osteochondrodysplasias, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Endoribonucleases, Humans, Coding region, Gene Silencing, Promoter Regions, Genetic, Gene, Alleles, 030304 developmental biology, Ribonucleoprotein, Genetics, 0303 health sciences, Base Sequence, Biochemistry, Genetics and Molecular Biology(all), Bio-Molecular Chemistry, Chromosome Mapping, RNA, Precipitin Tests, RNase MRP, Cartilage, Ribonucleoproteins, 030220 oncology & carcinogenesis, Mutation, Hair |
| الوصف: | Item does not contain fulltext The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers. The endoribonuclease RNase MRP consists of an RNA molecule bound to several proteins. It has at least two functions, namely, cleavage of RNA in mitochondrial DNA synthesis and nucleolar cleaving of pre-rRNA. We describe numerous mutations in the untranslated RMRP gene that cosegregate with the CHH phenotype. Insertion mutations immediately upstream of the coding sequence silence transcription while mutations in the transcribed region do not. The association of protein subunits with RNA appears unaltered. We conclude that mutations in RMRP cause CHH by disrupting a function of RNase MRP RNA that affects multiple organ systems. |
| تدمد: | 0092-8674 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881d9d8b2741cc322ae3fca0d8ef2e22Test https://doi.org/10.1016/s0092-8674Test(01)00205-7 |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....881d9d8b2741cc322ae3fca0d8ef2e22 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00928674 |
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