Ataei Jaliseh, Reza (2018) Functional study of RNFT2 gene in causing of Autosomal Recessive Intellectual Disability. Masters thesis, University of Zabol.
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Functional study of RNFT2 gene in causing of Autosomal.pdf Download (47kB) | Preview |
Abstract
Intellectual disability (ID) is a neurodevelopmental disorder, which cause great socioeconomic burden. The advent of high-throughput sequencing technologies has led to an exponential increase the in deciphering of novel disease causing genes in highly heterogeneous disease. A novel missense mutation in RNFT2 gene was detected by Next-Generation Sequencing (NGS) in two Iranian families with syndromic autosomal recessive intellectual disability (ARID). RNFT2 encodes a ring finger transmembrane protein that involve in ubiquitination and protein degradation which is electron carrier activity and ion-self cluster binding. In silico simulation show that this point mutation led to change in protein structure and low affinity of the Zink. Furthermore, RNAimediated knockdown of CG13605, the RNFT2 ortolog in Drosophila melanogaster brain led to behavioral defect in learning and memory. In conclusion, our funding is supported the possible role of RNFT2 in brain development, learning and form of memory which can led to cognitive impairment.
| Item Type: | Thesis (Masters) |
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| Uncontrolled Keywords: | Autosomal recessive intellectual disability, RNFT2, Drosophila melanogaster, Kenyon cells |
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| Depositing User: | Mrs najmeh khajeh |
| Date Deposited: | 29 Jan 2019 06:30 |
| Last Modified: | 29 Jan 2019 06:30 |
| URI: | http://eprints.uoz.ac.ir/id/eprint/2375 |
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