aneuploidy and confined chromosomal mosaicism in the developing human brain非整倍性和在染色体镶嵌现象在发展中人类大脑.pdfVIP

Aneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain 1,2. 1,2. 1,2. 3 2 4 5 Yuri B. Yurov *, Ivan Y. Iourov , Svetlana G. Vorsanova , Thomas Liehr , Alexei D. Kolotii , Sergei I. Kutsev , Franck Pellestor , Alfia K. 1,2 1,2 2 1 1 Beresheva , Irina A. Demidova , Viktor S. Kravets , Viktor V. Monakhov , Ilia V. Soloviev 1 National Research Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia, 2 Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia, 3 Institute of Human Genetics and Anthropology, Jena, Germany, 4 Rostov State Medical University, Roszdrav, Rostov-on- Don, Russia, 5 Institute of Human Genetics, Montpellier, France Background. Understanding the mechanisms underlying generation of neuronal variability and complexity remains the central challenge for neuroscience. Structural variation in the neuronal genome is likely to be one important mechanism for neuronal diversity and brain diseases. Large-scale genomic variations due to loss or gain of whole chromosomes (aneuploidy) have been described in cells of the normal and diseased human brain, which are generated from neural stem cells during intrauterine period of life. However, the incidence of aneuploidy in the developing human brain and its impact on the brain development and function are obscure. Methodology/Principal Findings. To address genomic variation during development we surveyed aneuploidy/polyploidy in the human fetal tissues by advanced molecular-cytogenetic techniques at the single-cell level. Here we show that the human developing brain has mosaic nature, being composed of euploid and aneuploid neural cells. Studying over