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表型与基因型的关联:编码神经酰胺C9-甲基转移酶的基因突变与表型的关联

Phenotype to genotype in : Association of the phenotype with mutations in the gene encoding ceramide C9-methyltransferase.

作者信息

Bredeweg Erin L, McCluskey Kevin, Baker Scott E

机构信息

Functional and Systems Biology Group, Environmental Molecular Sciences Division, Pacific Northwest National Laboratory, Richland, WA, USA.

Fungal Genetics Stock Center, Kansas State University, USA.

出版信息

Curr Res Microb Sci. 2022 Feb 19;3:100117. doi: 10.1016/j.crmicr.2022.100117. eCollection 2022.

Abstract

Using a legacy of genetic mutants of , paired with resequencing efforts through JGI, we have identified the gene responsible for the 'scumbo' mutant. This early morphological mutant was described as "Irregular flat, spreading growth with knobby protrusions and abnormal conidiation, but no free conidia. Mycelium usually appears yellowish rather than orange. Female fertile." (Perkins, Radford et al. 2000). Our further investigation has found new insights into the identity and associated functions of scumbo as a ceramide C9 methyltransferase, previously annotated as "similar to cyclopropane-fatty-acyl-phospholipidsynthase", encoded by the gene NCU07859. This enzyme performs a fungal-specific methyl modification of glycosyl-ceramides and has implications for membrane homeostasis and hyphal polarity in filamentous fungi.

摘要

利用 遗传突变体的遗产,并通过联合基因组研究所(JGI)的重测序工作,我们已经鉴定出了导致“scumbo”突变体的基因。这种早期形态突变体被描述为“不规则扁平,呈蔓延生长,有瘤状突起和异常分生孢子形成,但无游离分生孢子。菌丝体通常呈淡黄色而非橙色。雌性可育。”(珀金斯、拉德福德等人,2000年)。我们的进一步研究对scumbo作为一种神经酰胺C9甲基转移酶的身份和相关功能有了新的认识,该酶先前注释为“类似于环丙烷脂肪酰磷脂合酶”,由基因NCU07859编码。这种酶对糖基神经酰胺进行真菌特异性甲基修饰,对丝状真菌的膜稳态和菌丝极性有影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24d9/9325734/b5d94534cdb9/ga1.jpg

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