【摘要】 家蚕Lan突变体是一种隐性纯合致死突变体，其正常型（+/+）和杂合体（Lan/+）可以正常存活，纯合个体（Lan/Lan）在胚胎期因浆膜层发育异常而死亡。为探究其分子基础，本研究采用基于数据非依赖采集模式（DIA）的液相色谱质谱联用技术，对家蚕Lan纯合突变体（Lan/Lan）与正常型（+/+）胚胎进行蛋白质组学比较分析。结果表明，本研究共鉴定到3 281个蛋白质，其中差异表达蛋白质368个（170个蛋白质上调，198个蛋白质下调）。生物信息学分析结果显示，差异表达蛋白质主要参与代谢过程、核糖体通路、能量代谢、信号传导及DNA修复等生物学过程。前期研究结果表明Lan突变体在基因组上存在染色体的大片段缺失，缺失2.73Mb，包括94个预测基因。进一步将差异表达的蛋白质与Lan突变体染色体上缺失的94个预测基因进行关联分析，结果表明，有5个蛋白质下调表达，包括核糖体蛋白L36(RL36)、磷酸核糖焦磷酸合成酶（PRPS1）、ω-酰胺酶NIT2(NIT2)、线粒体Lon蛋白酶（LONM）和微管蛋白特异性伴侣A(TBCA)。这些蛋白质分别参与蛋白质合成、核苷酸代谢、氨基酸代谢、线粒体功能维持和微管组装等关键细胞过程，其表达下调均可能导致胚胎纯合致死。研究结果为解析该突变体隐性纯合致死相关的负责基因奠定了基础。更多还原

【Abstract】 The silkwormLan mutant is a recessive homozygous lethal mutant.Its wild-type（+/+）and heterozygous(Lan/+)individuals can survive normally,while homozygous individuals(Lan/Lan)die during the embryonic stage due to abnormal serosal layer development.To explore its molecular basis,this study used liquid chromatography-mass spectrometry(LC-MS)based on data-independent acquisition(DIA)mode to conduct a comparative proteomic analysis of embryos from the silkwormLan homozygous mutant(Lan/Lan)and the wild-type（+/+）．The results showed that a total of 3,281 proteins were identified,among which 368 were differentially expressed proteins(170 upregulated,198 downregulated).Bioinformatics analysis indicated that the differentially expressed proteins were mainly involved in biological processes such as metabolic processes,ribosomal pathways,energy metabolism,signal transduction,and DNA repair.Previous research showed that the Lan mutant has a large chromosomal fragment deletion in its genome,spanning 2.73 Mb and including 94 predicted genes.Further correlation analysis between the differentially expressed proteins and the 94 predicted genes deleted in the Lan mutant chromosome revealed that five proteins were downregulated,including ribosomal protein L36(RL36),phosphoribosyl pyrophosphate synthetase(PRPS1),omega-amidase NIT2(NIT2),mitochondrial Lon protease(LONM),and tubulin-specific chaperone A(TBCA).These proteins participate in key cellular processes such as protein synthesis,nucleotide metabolism,amino acid metabolism,mitochondrial function maintenance,and microtubule assembly,and their downregulation may collectively lead to embryonic homozygous lethality.The research results lay the foundation for identifying the responsible genes associated with recessive homozygous lethality in Lan mutant.更多还原