期刊
TRENDS IN GENETICS
卷 35, 期 12, 页码 948-955出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2019.10.001
关键词
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资金
- National Institutes of Health (NIH)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development [RO1 HD075903, T32HD087166]
- Michigan State University (MSU) AgBioResearch
- MSU
Structural maintenance of chromosomes flexible hinge-domain containing protein 1 (SMCHD1) has emerged as a key regulator of embryonic genome function. Its functions have now extended well beyond the initial findings of effects on X chromosome inactivation associated with lethality in female embryos homozygous for a null allele. Autosomal dominant effects impact stem cell properties as well as postnatal health. Recent studies have revealed that SMCHD1 plays an important role as a maternal effect gene that regulates the master switch of life, namely embryonic genome activation, as well as subsequent preimplantation development and term viability , These discoveries mark SMCHD1 as a major regulator linking developmental processes to adult disorders including a form of muscular dystrophy.
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