کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1914336 | 1535157 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice
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کلمات کلیدی
Premature translation termination codonqRT-PCRPTCNMDEpisodic Ataxia type 2RockerLeanerCaV2.1adcAHaploinsufficiencyEA2CACNA1Aautosomal dominant cerebellar ataxia - اتاوسای غالب مغزی اتوزوم مغزیanalysis of variance - تحلیل واریانسANOVA - تحلیل واریانس Analysis of varianceNonsense-mediated decay - فساد ادعایی بی معنیnonsense mediated decay - فساد میانجی گریrelative quantity - مقدار نسبیquantitative real-time PCR - واکنش زنجیره ای پلیمراز واقعی در زمان واقعیvoltage gated calcium channel - ولتاژ کانال کلسیمTottering - کلاهبرداری
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice](/preview/png/1914336.png)
چکیده انگلیسی
Loss of function mutations of the CACNA1A gene, coding for the α1A subunit of P/Q type voltage-gated calcium channel (CaV2.1), are responsible for Episodic Ataxia type 2 (EA2), an autosomal dominant disorder. A dominant negative effect of the EA2 mutated protein, rather than a haploinsufficiency mechanism, has been hypothesised both for protein-truncating and missense mutations. We analysed the cacna1a mRNA expression in leaner mice carrying a cacna1a mutation leading to a premature stop codon. The results showed a very low mutant mRNA expression compared to the wild type allele. Although the mutant mRNA slightly increases with age, its low level is likely due to degradation by nonsense mediated decay, a quality control mechanism that selectively degrades mRNA harbouring premature stop codons. These data have implications for EA2 in humans, suggesting a haploinsufficiency mechanism at least for some of the CACNA1A mutations leading to a premature stop codon.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 305, Issues 1â2, 15 June 2011, Pages 71-74
Journal: Journal of the Neurological Sciences - Volume 305, Issues 1â2, 15 June 2011, Pages 71-74
نویسندگان
Liana Veneziano, Serena Albertosi, Daniela Pesci, Elide Mantuano, Marina Frontali, Carla Jodice,