X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications
(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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https://lup.lub.lu.se/record/1122957
- author
- publishing date
- 2001
- type
- Contribution to journal
- 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
- id
- 598eaa28-51cb-48af-a807-313dd77780ad (old id 1122957)
- date added to LUP
- 2016-04-01 11:54:41
- date last changed
- 2022-01-26 20:04:57
@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}}, doi = {{10.1093/hmg/10.1.77}}, volume = {{10}}, year = {{2001}}, }