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

Sudbrak, Ralf; Wieczorek, Georg; Nuber, Ulrike LU ; Mann, Wolfgang; Kirchner, Roland; Erdogan, Fikret; Brown, Carolyn J; Wohrle, Doris; Sterk, Peter and Kalscheuer, Vera M, et al. (2001) In Human Molecular Genetics 10(1). p.77-83
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... (More)
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. (Less)
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publication status
published
subject
in
Human Molecular Genetics
volume
10
issue
1
pages
77 - 83
publisher
Oxford University Press
external identifiers
  • pmid:11136717
  • scopus:0035171510
ISSN
0964-6906
DOI
10.1093/hmg/10.1.77
language
English
LU publication?
no
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598eaa28-51cb-48af-a807-313dd77780ad (old id 1122957)
date added to LUP
2008-07-16 08:41:35
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2018-04-08 03:35:21
@article{598eaa28-51cb-48af-a807-313dd77780ad,
  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.},
  author       = {Sudbrak, Ralf and Wieczorek, Georg and Nuber, Ulrike and Mann, Wolfgang and Kirchner, Roland and Erdogan, Fikret and Brown, Carolyn J and Wohrle, Doris and Sterk, Peter and Kalscheuer, Vera M and Berger, Wolfgang and Lehrach, Hans and Ropers, Hans-Hilger},
  issn         = {0964-6906},
  language     = {eng},
  number       = {1},
  pages        = {77--83},
  publisher    = {Oxford University Press},
  series       = {Human Molecular Genetics},
  title        = {X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications},
  url          = {http://dx.doi.org/10.1093/hmg/10.1.77},
  volume       = {10},
  year         = {2001},
}