Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans
Microcephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients with microcephaly. Various non-coding RNAs (ncRN...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Cell and Developmental Biology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2023.1168072/full |
| _version_ | 1797799553486815232 |
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| author | Mayuri Tokunaga Takuya Imamura |
| author_facet | Mayuri Tokunaga Takuya Imamura |
| author_sort | Mayuri Tokunaga |
| collection | DOAJ |
| description | Microcephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients with microcephaly. Various non-coding RNAs (ncRNAs), such as microRNAs (miRNAs), SINEUPs, telomerase RNA component (TERC), and promoter-associated lncRNAs (pancRNAs) are now being characterized. These ncRNAs regulate gene expression, enzyme activity, telomere length, and chromatin structure through RNA binding proteins (RBPs)-RNA interaction. Elucidating the potential roles of ncRNA-protein coordination in microcephaly pathogenesis might contribute to its prevention or recovery. Here, we introduce several syndromes whose clinical features include microcephaly. In particular, we focus on syndromes for which ncRNAs or genes that interact with ncRNAs may play roles. We discuss the possibility that the huge ncRNA field will provide possible new therapeutic approaches for microcephaly and also reveal clues about the factors enabling the evolutionary acquisition of the human-specific “large brain.” |
| first_indexed | 2024-03-13T04:20:36Z |
| format | Article |
| id | doaj.art-48acc31dafc44f23bccc1d801677de4c |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-03-13T04:20:36Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-48acc31dafc44f23bccc1d801677de4c2023-06-20T10:06:43ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2023-06-011110.3389/fcell.2023.11680721168072Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humansMayuri TokunagaTakuya ImamuraMicrocephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients with microcephaly. Various non-coding RNAs (ncRNAs), such as microRNAs (miRNAs), SINEUPs, telomerase RNA component (TERC), and promoter-associated lncRNAs (pancRNAs) are now being characterized. These ncRNAs regulate gene expression, enzyme activity, telomere length, and chromatin structure through RNA binding proteins (RBPs)-RNA interaction. Elucidating the potential roles of ncRNA-protein coordination in microcephaly pathogenesis might contribute to its prevention or recovery. Here, we introduce several syndromes whose clinical features include microcephaly. In particular, we focus on syndromes for which ncRNAs or genes that interact with ncRNAs may play roles. We discuss the possibility that the huge ncRNA field will provide possible new therapeutic approaches for microcephaly and also reveal clues about the factors enabling the evolutionary acquisition of the human-specific “large brain.”https://www.frontiersin.org/articles/10.3389/fcell.2023.1168072/fullmicrocephalynon-coding RNARNA-binding proteinhuman medicineepigeneticbrain diversity |
| spellingShingle | Mayuri Tokunaga Takuya Imamura Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans Frontiers in Cell and Developmental Biology microcephaly non-coding RNA RNA-binding protein human medicine epigenetic brain diversity |
| title | Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| title_full | Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| title_fullStr | Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| title_full_unstemmed | Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| title_short | Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| title_sort | emerging concepts involving inhibitory and activating rna functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans |
| topic | microcephaly non-coding RNA RNA-binding protein human medicine epigenetic brain diversity |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2023.1168072/full |
| work_keys_str_mv | AT mayuritokunaga emergingconceptsinvolvinginhibitoryandactivatingrnafunctionalizationtowardstheunderstandingofmicrocephalyphenotypesandbraindiseasesinhumans AT takuyaimamura emergingconceptsinvolvinginhibitoryandactivatingrnafunctionalizationtowardstheunderstandingofmicrocephalyphenotypesandbraindiseasesinhumans |