中国畜牧杂志

利用单细胞RNA-seq研究Mitf-M基因突变对荣昌猪耳蜗血管纹边缘细胞的影响

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中国畜牧杂志 | 遗传育种 2026,62(2): 252-258

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中国畜牧杂志 |遗传育种 2026 , 62 (2) : 252 -258

利用单细胞RNA-seq研究Mitf-M基因突变对荣昌猪耳蜗血管纹边缘细胞的影响

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龙熙^1,2, 柴捷^1,2, 涂志^1,2, 张亮^1,2, 张利娟^1,2, 潘红梅^1,2, 张力丹², 王清², 郭宗义^1,2

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通讯作者:

郭宗义

作者简介:

龙熙（1990-），女，四川资阳人，硕士，副研究员，主要从事猪遗传育种与繁殖研究，E-mail:13618288075@163.com;

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出版时间: 2025-12-11 doi: 10.19556/j.0258-7033.20250211-03

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本文旨在研究Mitf-M基因突变对荣昌猪耳蜗血管纹边缘细胞的影响，为后续深入解析荣昌猪的耳聋机制提供理论依据。以3月龄野生型荣昌猪（Mitf-R）和耳聋荣昌猪（Mitf-r）为研究对象，基于单细胞RNA-seq技术并结合边缘细胞标记基因，注释耳蜗血管纹边缘细胞，统计边缘细胞数量，筛选差异表达基因。通过UMAP聚类和边缘细胞标记基因KCNQ1、SLC12A2注释出了Mitf-R和Mitf-r的边缘细胞。细胞数量统计结果表明Mitf-M突变导致了血管纹边缘细胞数量的减少。差异基因表达分析发现了140个差异倍数2倍以上的基因，其中Mitf-R相对Mitf-r有122个基因上调，18个下调，包括KCNAB1、KCNQ1、NALCN、SLC26A7、SLC9A4、SLC16A7、TRPM3等离子通道相关基因。差异基因GO功能富集分析表明这些基因显著富集在离子跨膜转运、离子跨膜所需的转运复合物的形成以及离子跨膜转运蛋白的活性等生物学过程。KEGG信号通路分析结果表明，差异表达基因主要在MAPK、钙离子、Rap1、ErbB等调节细胞生长、分化、迁移的信号通路以及氧化磷酸化、cAMP等与离子通道蛋白活化相关的信号通路上富集。Mitf-M基因突变减少了耳聋荣昌猪血管纹边缘细胞的数量以及导致140个基因的差异表达，这些差异基因对边缘细胞的影响主要涉及细胞的生长、分化、迁移以及细胞的离子跨膜运输等功能。

关键词

单细胞RNA-seq / 荣昌猪 / 耳聋 / Mitf-M / 边缘细胞

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龙熙, 柴捷, 涂志, 张亮, 张利娟, 潘红梅, 张力丹, 王清, 郭宗义. 利用单细胞RNA-seq研究Mitf-M基因突变对荣昌猪耳蜗血管纹边缘细胞的影响. 中国畜牧杂志, 2026 , 62 (2) : 252 -258 . DOI: 10.19556/j.0258-7033.20250211-03

基金

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重庆市科研院所绩效激励引导专项项目（19540）;国家重点研发计划项目主要农业单胃动物和水产生物珍稀濒危种质资源的抢救性保护（2021YFD1200303）;重庆市现代农业产业技术体系资助（CQMAITS202312）;

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2026年第62卷第2期

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doi: 10.19556/j.0258-7033.20250211-03

首发时间：2026-07-01
出版时间：2025-12-11

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2种不同金属材料的力学参数

科 Family	属数 Number of genus	种数 Number of species	占总种数比例 Percentage of total species (%)	属 Genus	种数 Number of species	占总种数比例 Percentage of total species (%)
鹅膏菌科Amanitaceae	2	11	5.26	鹅膏菌属 Amanita	10	4.78
小菇科 Mycenaceae	2	12	5.74	丝盖伞属 Inocybe	5	2.39
多孔菌科 Polyporaceae	8	14	6.70	蜡蘑属 Laccaria	5	2.39
红菇科 Russulaceae	3	23	11.00	小皮伞属 Marasmius	6	2.87
				小菇属 Mycena	11	5.26
				光柄菇属 Pluteus	5	2.39
				红菇属 Russula	17	8.13
				栓菌属 Trametes	5	2.39

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