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在UHRF1的生殖系变异与人类和小鼠的多位点印记干扰有关

Eguzkine Ochoa¹, Ilona Zvetkova², Sunwoo Liv Lee¹

¹Department of Genomic Medicine, University of Cambridge and National Institute for Health and Care Research Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America

|August 18, 2025

概括

一种UHRF1基因变异导致多位点印记干扰 (MLID),一种影响基因组印记的疾病. 这种MLID的遗传原因在一个家族中被确定,并在小鼠模型中得到证实,扩大了与UHRF1.1相关的已知表观遗传障碍.

科学领域:

遗传学遗传学是一个
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
发展生物学发展生物学

背景情况:

遗传印记障碍 (CID) 提供了对基因组印记在发育和疾病中的作用的见解.
贝克威斯-维德曼谱 (BWSp) 是一个关键的CID,与染色体11p15.5的改变有关.
多部位印记干扰 (MLID) 在一些BWSp病例中涉及超出11p15.5的表观遗传变化.

研究的目的:

调查UHRF1误解变异在MLID遗传中的作用.
为了确定UHRF1的改变是否会导致异常的基因组印记建立或维护.

主要方法:

研究了BWSp和MLID的血缘家族,确定了同卵性UHRF1变体 (c.2001G>C, p.
开发了一种基因工程小鼠模型,具有相应的UHRF1 p.
在对UHRF1变体同卵同卵的小鼠中观察到的表型和印记模式.

主要成果:

同性合体的UHRF1变体小鼠表现出包括产前死亡率和MLID在内的表型,特别是当它们出生于同性合体的母亲时.
在携带UHRF1变种的受影响小鼠胚胎中证实了MLID.
这些发现支持由双基UHRF1变异引起的MLID的自身遗传模式.

结论:

双性UHRF1变体代表了人类MLID的自身遗传性衰退性原因.
这项研究扩大了与UHRF1.1相关的表观遗传障碍的范围.
在保持基因组印记模式方面,UHRF1起着至关重要的作用.

关键词:

遗传性印记障碍是一种先天性印记障碍.基因组印记是基因组的印记.继承继承继承继承继承甲基化处理的方法多个位置打印干扰干扰.

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