A new era for the dark genome.

IF 16.3 2区生物学 Q1 GENETICS & HEREDITY

Trends in Genetics Pub Date : 2026-04-13 DOI:10.1016/j.tig.2026.03.003

Merel Stemerdink, Dalila Capasso, Munevver Burcu Cicekdal

引用次数: 0

Abstract

A landmark study by Quinodoz et al. revealed that variants in noncoding small nuclear RNA genes, RNU4-2 and four RNU6 paralogs, represent a previously unrecognized cause of autosomal dominant retinitis pigmentosa. This uncovers pleiotropy in RNU4-2 variants and expands the genetic architecture of Mendelian disease into the 'dark genome'.

查看原文本刊更多论文

黑暗基因组的新时代。

Quinodoz等人的一项具有里程碑意义的研究表明，非编码小核RNA基因RNU4-2和四个RNU6类似基因的变异是以前未被认识的常染色体显性视网膜色素变性的原因。这揭示了RNU4-2变异的多效性，并将孟德尔病的遗传结构扩展到“黑暗基因组”中。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

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.