通过长期阅读的测序和其新型信号功能的影响来识别混合基因LILRB5-3
Kouyuki Hirayasu1,2,3,4, Seik-Soon Khor5,6, Yosuke Kawai5
1Advanced Preventive Medical Sciences Research Center, Kanazawa University, Kanazawa, Japan.
Frontiers in immunology
|May 29, 2024
概括
研究人员在人类白细胞免疫球蛋白类受体 (LILR) 家族中发现了一种新型混合基因LILRB5-3. 这种基因是大量删除的结果,可能具有新的信号功能,扩大LILR遗传多样性.
科学领域:
- 免疫遗传学 免疫遗传学
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 白细胞免疫球蛋白 (Ig) 类受体 (LILRs) 是由人类染色体 19q13.4.4 上的基因编码的关键免疫受体.
- 在LILR基因家族中的遗传变异有助于免疫多样性.
- 由于高序列同质性,LILRB3和LILRA6的基因组区域的特征不佳.
研究的目的:
- 描述LILRB3和LILRA6.6复杂的基因组区域.
- 为了调查以前未报告的删除,使用短读全基因组测序 (srWGS) 确定.
- 分析已识别的删除的结构和潜在的功能后果.
主要方法:
- 将JoGo-LILR CN Caller工具应用于国际srWGS数据集 (2504个样本).
- 长读测序用于分析检测到删除的样本.
- 转录和翻译分析以验证混合基因表达.
主要成果:
- 在日本人口中的LILRB3,LILRA6和LILRB5基因组区域中发现了一种新的33,692bp删除.
- 删除导致LILRB5-LILRB3 (LILRB5-3) 杂交基因的形成,LILRA6被丢失.
- LILRB5-3杂交基因表现出转录和翻译,具有LILRB5细胞外域与ITIM融合到部分LILRB3细胞内域,表明了新的信号传递能力.
- 有证据表明,LILRB5-3杂交基因也可能存在于CEU群体中.
结论:
- 该研究发现了一种新型LILRB5-3杂交基因,由大量删除而产生的,扩大了LILR家族已知的遗传多样性.
- 混合基因LILRB5-3的独特结构,与ITIMs,表明潜在的新型免疫信号功能.
- 这些发现增强了我们对LILR基因进化和人类群体功能变异的理解.
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