Iourov Ivan Y, Vorsanova Svetlana G, Yurov Yuri B
National Research Center of Mental Health, Russian Academy of Sciences, Moscow, Russia 119152.
Int Rev Cytol. 2006;249:143-91. doi: 10.1016/S0074-7696(06)49003-3.
Chromosomal mosaicism is still a genetic enigma. Although the mechanisms and consequences of this phenomenon have been studied for over 50 years, there are a number of gaps in our knowledge concerning causes, genetic mechanisms, and phenotypic manifestations of chromosomal mosaicism. Neuronal cell-specific chromosomal mosaicism is not an exception. Originally, neuronal cells of the mammalian brain were assumed to possess identical genomes. However, recent studies have shown chromosomal variations, manifested as chromosome abnormalities in cells of the developing and adult mammalian nervous system. Here, we review data obtained on the variation in chromosome complement in mammalian neuronal cells and hypothesize about the possible relevance of large-scale genomic (i.e., chromosomal) variations to brain development and functions as well as neurodevelopmental and neurodegenerative disorders. We propose to cover the term "molecular neurocytogenetics to cover all studies the aim of which is to reveal chromosome variations and organization in the mammalian brain.
染色体镶嵌现象仍是一个遗传学谜团。尽管对这一现象的机制和后果已研究了50多年，但在我们关于染色体镶嵌现象的成因、遗传机制和表型表现的知识方面仍存在许多空白。神经元细胞特异性染色体镶嵌现象也不例外。最初，哺乳动物大脑的神经元细胞被认为具有相同的基因组。然而，最近的研究表明存在染色体变异，表现为发育中和成年哺乳动物神经系统细胞中的染色体异常。在此，我们综述了关于哺乳动物神经元细胞染色体组成变异所获得的数据，并对大规模基因组（即染色体）变异与大脑发育和功能以及神经发育和神经退行性疾病的可能相关性提出假说。我们建议用“分子神经细胞遗传学”这一术语涵盖所有旨在揭示哺乳动物大脑中染色体变异和组织的研究。
