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

Summary, in English

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.

• Författare: Ralf Sudbrak; Georg Wieczorek; Ulrike Nuber; Wolfgang Mann; Roland Kirchner; Fikret Erdogan; Carolyn J Brown; Doris Wohrle; Peter Sterk; Vera M Kalscheuer; Wolfgang Berger; Hans Lehrach; Hans-Hilger Ropers
• Publiceringsår: 2001
• Språk: Engelska
• Sidor: 77-83
• Publikation/Tidskrift/Serie: Human Molecular Genetics
• Volym: 10
• Issue: 1
• Länkar: http://dx.doi.org/10.1093/hmg/10.1.77
• Dokumenttyp: Artikel i tidskrift
• Förlag: Oxford University Press
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 0964-6906