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副本数变异分析确定MIR9-3和MIR1299是CAKUT的新型miRNA候选基因

Ivan Zivotic¹, Ivana Kolic¹, Mirjana Cvetkovic^2,3

¹Department of Radiobiology and Molecular Genetics, Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, P.O. Box 522, 11001, Belgrade, Serbia.

Pediatric nephrology (Berlin, Germany)

|April 24, 2024

概括

微RNA (miRNA) 基因中常见的副本数变异 (CNV) 与脏和尿路的先天性异常 (CAKUT) 有关. 这项研究确定了与CAKUT相关的特定miRNA基因CNV,为其复杂的遗传提供了洞察力.

科学领域:

遗传学遗传学是一个
发展生物学发展生物学
儿科脏病学儿科脏病学

背景情况:

脏和尿路的先天性异常 (CAKUT) 是儿童功能衰竭的主要原因.
影响微RNA (miRNA) 区域的常见副本数变异 (CNV) 涉及到发育过程.
常见的CNV对应的miRNAs (cCNV-miRNAs) 可能会影响泌尿系统的发育.

研究的目的:

研究cCNV-miRNAs与CAKUT的发生和表达性之间的关联.
为了识别与CAKUT表型相关的特定miRNA基因CNV.

主要方法:

从gnomAD v2.1和dbVar数据库中过了常见的CNV,将它们映射到miRNA序列中.
通过生物信息分析和文献审查优先考虑cCNV-miRNA候选者.
在 221 名 CAKUT 患者和 192 名对照患者中,通过 TaqManTM 技术对 MIR9-3,MIR511 和 MIR1299 的基因型复制号进行了复制.

主要成果:

在CAKUT患者和对照人群之间观察到MIR9-3和MIR1299的拷贝数分布明显不同 (P < 0.01).
MIR511副本数分布显示名义显著 (P = 0.027).
与对照组相比,在CAKUT患者和尿路异常患者中,MIR1299的非二副本数的频率增加.

结论:

微RNA基因的复制数变异为CAKUT复杂遗传提供了新的视角.
这些发现为共同的遗传变异和CAKUT表型之间的关联提供了证据.

关键词:

协会研究研究协会研究子 (Cactus) 是一种有趣的植物.在CNV中,CNV是NV.这是一个小RNARNA.

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