Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
复制标题
人类发育和畸形综合征中的遗传修饰剂，包括伴侣蛋白。
DOI：
10.1093/hmg/ddg099
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发表时间：
2003
影响因子：
3.5
通讯作者：
Biesecker,LeslieG
中科院分区：
文献类型：
--
作者：
Slavotinek,Anne;Biesecker,LeslieG
人类简单孟德尔性状的阐明、基因型-表型关系的复杂性以及对复杂遗传性状的日益重视的快速发展，共同促使人们关注修饰基因在人类中的作用。本文综述了遗传修饰基因的种类及其影响，并讨论了涉及修饰基因的非孟德尔遗传模式。虽然遗传模型从许多疾病类别的人类和模型系统将被考虑，我们专注于这一审查的影响，了解多效性畸形综合征。到目前为止，遗传修饰剂已被分子定义在相对较少的畸形综合征，但迅速承认其在人类发育中的关键作用是一个令人兴奋的进步，当代试图了解表型和基因型的关系。
Rapid developments in the elucidation of simple Mendelian traits in humans, the complexity of genotype–phenotype relationships, and the growing appreciation of complex genetic traits have conspired to focus interest on the role of modifier genes in humans. This paper reviews categories of genetic modifiers and their effects and then discusses non-Mendelian inheritance patterns involving modifier genes. Although genetic models from many disease classes of human and model systems will be considered, we focus this review on the implications for the understanding of pleiotropic malformation syndromes. Genetic modifiers have so far been molecularly defined in relatively few malformation syndromes, but the rapid acknowledgement of their critical role in human development is an exciting advance in contemporary attempts to understand the relationship of phenotype and genotype.