Snyder-Robinson综合征的果蝇模型的发展和特征。

4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Methods in enzymology Pub Date : 2025-01-01 Epub Date: 2025-02-27 DOI:10.1016/bs.mie.2025.01.077

Xianzun Tao, R Grace Zhai

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引用次数: 0

摘要

Snyder-Robinson综合征（SRS）是一种以智力残疾、骨骼异常和免疫系统功能障碍为特征的x连锁疾病。SRS是由精胺合成酶（SMS）基因突变引起的，导致多胺失调，以及无数的细胞功能障碍。本章提出了一种开发和表征果蝇SRS模型的方法，该模型概括了SMS缺陷的表型。该方案涵盖了果蝇模型的生成、表型表征、数据分析方法和故障排除，以提高可重复性和严谨性。

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Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Snyder-Robinson Syndrome (SRS) is an X-linked disorder characterized by intellectual disability, skeletal abnormalities, and immune system dysfunction. SRS is caused by mutations in the spermine synthase (SMS) gene, leading to polyamine dysregulation, and a myriad of cellular dysfunctions. This chapter presents a methodology for developing and characterizing a Drosophila model of SRS that recapitulates phenotypes of SMS deficiency. The protocol covers the generation of the Drosophila model, phenotypic characterization, data analysis methods, and troubleshooting to enhance reproducibility and rigor.

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来源期刊

Methods in enzymology 生物-生化研究方法

CiteScore

2.90

自引率

0.00%

发文量

308

审稿时长

3-6 weeks

期刊介绍： The critically acclaimed laboratory standard for almost 50 years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. Each volume is eagerly awaited, frequently consulted, and praised by researchers and reviewers alike. Now with over 500 volumes the series contains much material still relevant today and is truly an essential publication for researchers in all fields of life sciences, including microbiology, biochemistry, cancer research and genetics-just to name a few. Five of the 2013 Nobel Laureates have edited or contributed to volumes of MIE.