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Zane Oberholzer¹, Chiron Loubser¹, Natalya V Nikitina¹

¹School of Molecular and Cell Biology, University of the Witwatersrand, Private Bag 3, Wits, 2050, Johannesburg, South Africa.

Differentiation; research in biological diversity

|September 26, 2024

概括

纤维细胞生长因子17 (FGF17) 在发育和疾病中发挥作用,突变与阴性腺体缺陷症和神经系统疾病有关. 尽管表达广泛,但Fgf17淘汰的小鼠表现出温和的表型,但在各种癌症中观察到改变表达.

科学领域:

分子生物学分子生物学
遗传学遗传学是一个
发展生物学发展生物学

背景情况:

纤维细胞生长因子 (FGFs) 家族,包括FGF17,包括22个通过纤维细胞生长因子受体 (FGFRs) 发出信号的成员.
在人类和小鼠中,FGF17具有不同的异构体,其中特定的异构体产生功能性蛋白质并具有关键结合域.
在胚胎发育过程中,FGF17mRNA在各种组织中表现出广泛的表达.

研究的目的:

调查FGF17的功能意义,特别是考虑到其广泛的发育表达.
探索FGF17突变在人类疾病中的影响及其在癌症中的改变表达.
评估FGF17的神经保护和认知增强作用.

主要方法:

分析Fgf17淘汰赛小鼠模型,观察表型后果.
对将FGF17突变与特定先天性疾病联系起来的人类遗传数据的审查.
检查各种癌症类型和缺血性中风和衰老模型中的基因表达数据.

主要成果:

成年Fgf17淘汰赛小鼠表现出温和的表型,主要影响额叶皮质,中后大脑边界和社会行为.
在1.1%的患者中,FGF17突变与先天性阴高性阴高性/卡尔曼综合征 (CHH/KS) 相关,通常与其他FGF通路基因突变相关.
在前列腺癌,造血癌,质母细胞瘤,宫癌和细胞癌中注意到FGF17的改变表达;FGF17显示神经保护作用并改善认知功能.

结论:

FGF17的广泛发育作用与淘汰小鼠中轻微的表型形成鲜明对比,这表明复杂的调节机制或功能冗余.
FGF17涉及人类发育障碍和各种癌症,突出其临床相关性.
FGF17在诸如缺血性中风和与年龄相关的认知衰退等神经疾病中显示出治疗潜力.

关键词:

癌症癌症癌症癌症遗传性性性性性性性发展发展发展发展发展背部额叶皮层的皮层.联邦政府财政基金.在FGF17基因.在下面的colliculus.卡尔曼综合征是卡尔曼综合征的一种症状.中脑 - 后脑边界突变的小鼠突变的小鼠突变突变突变突变下垂体茎中断综合征是什么罗斯特拉尔模式中心

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