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Trends Neurosci. 2012 Feb;35(2):81-91. doi: 10.1016/j.tins.2011.11.001. Epub 2011 Dec 9.

Trisomy 21 and early brain development.

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Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA.


Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS). The finished human genome sequence provides a thorough catalog of the genetic elements whose altered dosage perturbs development and function in DS. However, understanding how small alterations in the steady state transcript levels for <2% of human genes can disrupt development and function of essentially every cell presents a more complicated problem. Mouse models that recapitulate specific aspects of DS have been used to identify changes in brain morphogenesis and function. Here we provide a few examples of how trisomy for specific genes affects the development of the cortex and cerebellum to illustrate how gene dosage effects might contribute to divergence between the trisomic and euploid brains.

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