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Facts and artifacts in studies of gene expression in aneuploids and sex chromosomes

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Abstract

Studies of gene expression in aneuploids have often made the assumption that measurements of RNA abundance from the varied chromosome will establish whether there is a dosage effect or compensation. Typical procedures of RNA isolation and use of equal amounts of RNA for quantitative estimates will not measure the total transcriptome size nor the absolute expression levels per cell. Use of internal endogenous standards or averages from unvaried chromosomes for normalizations makes the assumption that there are no global modulations across the genome. However, studies that use controls to test these assumptions reveal that there are in fact often modulations on all chromosomes. The same caveats apply to gene expression studies of sex chromosomes, which also involve changes in dosage of a small portion of the genome. Here, we describe some of the pitfalls of studies of aneuploidy and sex chromosome gene expression and review methods that have been used to avoid them.

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Acknowledgments

This research is supported by the NIH grant RO1GM068042.

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    James A. Birchler

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Birchler, J.A. Facts and artifacts in studies of gene expression in aneuploids and sex chromosomes. Chromosoma 123, 459–469 (2014). https://doi.org/10.1007/s00412-014-0478-5

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