X chromosome-specific cDNA arrays: identification of genes that escape from 
X-inactivation and other applications

Sudbrak, R.; Wieczorek, G.; Nuber, U. A.; Mann, W.; Kirchner, R.; Erdogan, F.; Brown, C. J.; Wohrle, D.; Sterk, P.; Kalscheuer, V. M.; Berger, W.; Lehrach, H.; Ropers, H. H.

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Journal Article

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

MPS-Authors

Sudbrak, R.
Max Planck Society;

Wieczorek, G.
Max Planck Society;

Nuber, U. A.
Max Planck Society;

Mann, W.
Max Planck Society;

Kirchner, R.
Max Planck Society;

Erdogan, F.
Max Planck Society;

Brown, C. J.
Max Planck Society;

Wohrle, D.
Max Planck Society;

Sterk, P.
Max Planck Society;

Kalscheuer, V. M.
Max Planck Society;

Berger, W.
Max Planck Society;

Lehrach, H.
Max Planck Society;

Ropers, H. H.
Max Planck Society;

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http://www.ncbi.nlm.nih.gov/pubmed/11136717
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Citation

Sudbrak, R., Wieczorek, G., Nuber, U. A., Mann, W., Kirchner, R., Erdogan, F., et al. (2001). X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet, 10(1), 77-83.

Cite as: https://hdl.handle.net/21.11116/0000-0002-E00D-3

Abstract

Mutant alleles are frequently characterized by low expression levels. Therefore, cDNA array-based gene expression profiling may be a promising strategy for identifying gene defects underlying monogenic disorders. To study the potential of this approach, we have generated an X chromosome-specific microarray carrying 2423 cloned cDNA fragments, which represent up to 1317 different X-chromosomal genes. As a prelude to testing cell lines from patients with X-linked disorders, this array was used as a hybridization probe to compare gene expression profiles in lymphoblastoid cell lines from normal males, females and individuals with supernumerary X chromosomes. Measurable hybridization signals were obtained for more than half of the genes represented on the chip. A total of 53 genes showed elevated expression levels in cells with multiple X chromosomes and many of these were found to escape X-inactivation. Moreover, the detection of a male-viable deletion encompassing three genes illustrates the utility of this array for the identification of small unbalanced chromosome rearrangements.