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在邻近的NHEJ1内,IHH增强器变体会导致微症,症和瘤
Ohad Wormser1, Yonatan Perez1, Vadim Dolgin1
1The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
NPJ genomic medicine
|August 14, 2023
概括
在NHEJ1基因中,一种新型的内基变异通过影响邻近的印度刺 (Ihh) 基因增强器,导致眼睛发育障碍,包括微眼症,无眼症和眼球结肠瘤.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 眼科医生 眼科 眼科
背景情况:
- 内部基因组序列可以作为增强剂,影响邻近的基因表达.
- 微眼症,无眼症和眼球结肠瘤代表了严重的眼睛发育障碍的表型连续性.
- 之前的研究没有发现受影响个体的编码区域突变.
研究的目的:
- 为了确定一种自体逆性眼睛发育障碍的遗传原因.
- 为了研究内部变异在疾病发病过程中的作用.
- 阐明眼睛发育背后的分子机制.
主要方法:
- 在受影响的家庭中绘制同志性映射.
- 全基因组测序以确定与疾病相关的位置.
- 用小鼠和模型进行功能研究,以评估增强剂活性.
主要成果:
- 在染色体2q35上确定了一种与疾病相关的位点,该位点包含NHEJ1.1中的内基创始变体.
- 这种变体位于印度刺 (Ihh) 基因中已知的肢体发育增强剂内.
- 这种变异被证明会影响模型生物在眼睛发育中的增强剂的活性.
结论:
- 在NHEJ1中,一种内基变异破坏了对哺乳动物眼睛发育至关重要的IHH增强剂.
- 这种干扰导致微眼症,无眼症和眼球结肠瘤.
- 该研究强调非编码变体是发育障碍的原因,并澄清了眼睛发育途径.
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