死亡/死亡盒RNA解旋酶影响神经发育障碍的风险。

IF 13.6 2区生物学 Q1 GENETICS & HEREDITY

Trends in Genetics Pub Date : 2025-01-18 DOI:10.1016/j.tig.2024.12.006

Chiara Fiorenzani, Adele Mossa, Silvia De Rubeis

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引用次数: 0

摘要

RNA解旋酶（RHs）的DEAD/DEAH-box家族是真核生物中最丰富和最保守的。这些蛋白催化rna的重塑来调节它们的剪接、稳定性、定位和翻译。最近发现，DEAD/DEAH-box蛋白的罕见遗传变异与神经发育障碍（ndd）有关。对细胞和动物模型的分析揭示了这些蛋白质在大脑发育过程中的基本作用。我们讨论了涉及DEAD/DEAH-box蛋白在大脑发育和ndd中的遗传和功能证据，重点是如何利用来自旁系基因的结构见解来促进我们对致病机制的理解。

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DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.

The DEAD/DEAH-box family of RNA helicases (RHs) is among the most abundant and conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their splicing, stability, localization, and translation. Rare genetic variants in DEAD/DEAH-box proteins have recently emerged as being associated with neurodevelopmental disorders (NDDs). Analyses in cellular and animal models have uncovered fundamental roles for these proteins during brain development. We discuss the genetic and functional evidence that implicates DEAD/DEAH-box proteins in brain development and NDDs, with a focus on how structural insights from paralogous genes can be leveraged to advance our understanding of the pathogenic mechanisms at play.

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来源期刊

Trends in Genetics 生物-遗传学

CiteScore

20.90

自引率

0.90%

发文量

160

审稿时长

6-12 weeks

期刊介绍： Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.