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[物种名称]的基因组复杂性：对CRISPR靶向和疾病建模的影响

Genomic Complexity of in : Implications for CRISPR Targeting and Disease Modeling.

作者信息

Nakayama Takuya, Kulkarni Saurabh

机构信息

Department of Biology, University of Virginia, Charlottesville, Virginia, United States.

Department of Cell Biology, University of Virginia, Charlottesville, Virginia, United States.

出版信息

MicroPubl Biol. 2025 May 9;2025. doi: 10.17912/micropub.biology.001596. eCollection 2025.

DOI:10.17912/micropub.biology.001596
PMID:40415903
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12100157/
Abstract

Mutations in cause primary ciliary dyskinesia in humans. To evaluate the pathogenicity of variants in , we examined the genomic structure of this gene in , a diploid frog suitable as a model for genetic studies. We identified inconsistencies in the current gene model and discovered two distinct genes near the previously annotated locus. Surprisingly, , an allotetraploid species that typically has two homoeologs, contains only one homoeolog ( ), making it a more suitable genetic model for studying function and potentially expediting the functional characterization of CCDC40 variants linked to primary ciliary dyskinesia.

摘要

某些基因的突变会导致人类原发性纤毛运动障碍。为了评估某基因中变异的致病性，我们在一种适合作为遗传研究模型的二倍体青蛙中研究了该基因的基因组结构。我们发现当前该基因模型存在不一致之处，并在先前注释的基因座附近发现了两个不同的该基因。令人惊讶的是，某异源四倍体物种通常有两个同源基因，但却只包含一个同源基因，这使其成为研究该基因功能以及可能加速与原发性纤毛运动障碍相关的CCDC40变异功能表征研究的更合适的遗传模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54e8/12100157/8b427b8c990e/25789430-2025-micropub.biology.001596.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54e8/12100157/8b427b8c990e/25789430-2025-micropub.biology.001596.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54e8/12100157/8b427b8c990e/25789430-2025-micropub.biology.001596.jpg

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Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo.非洲爪蟾多纤毛上皮细胞在体内纤毛再生的机制
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