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Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

Paul-Martin Holterhus13*, Olaf Hiort3, Janos Demeter2, Patrick O Brown4* and James D Brooks1*

Author Affiliations

1 Department of Urology, Stanford University School of Medicine, Stanford, CA, 94305, USA

2 Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA

3 Department of Pediatrics, University of Lübeck, 23538 Lübeck, Germany

4 Department of Biochemistry and the Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, 94305, USA

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Genome Biology 2003, 4:R37  doi:10.1186/gb-2003-4-6-r37

Published: 15 May 2003

Additional files

Additional data file 1:

Unsupervised hierarchical cluster analysis of genes and experiments of 9 normal genital skin fibroblast lines (penile foreskin) and 5 AIS genital skin fibroblast lines (labia majora). Only transcripts whose log2 red / green ratio differed from the mean expression level across all ex-periments by at least 1.1 in at least three experiments are displayed (620 cDNAs). The dendro-gram of the array experiments reflects the similarity of the samples with respect to their gene expression patterns. F = female external genitalia, M = normal male external genitalia, NORM = normal male control, AIS4 = AIS with predominantly female phenotype (slight enlargement of the clitoris), CAIS = complete androgen insensitivity syndrome. Increasing red intensity cor-responds to increased gene expression levels compared to the mean log2 red/green ratio for each gene; increasing green intensity corresponds to decreased gene expression levels. The scale ranges from -8 to +8 in log2 space. (Complete dataset for Figure 1.).

Format: JPG Size: 1.7MB Download file

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Additional data file 2:

Array tree correlations for Figure 1.

Format: ATR Size: 1KB Download file

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Additional data file 3:

Complete data table for Figure 1.

Format: CDT Size: 96KB Download file

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Additional data file 4:

Gene tree correlations for Figure 1.

Format: GTR Size: 26KB Download file

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Additional data file 5:

Hierarchical cluster analysis of genes and experiments based on cDNAs identified as being significantly different in expression between normal genital skin fibroblasts and genital skin fibroblasts of female patients with AIS. The left panel shows an overview of 472 of the total of 487 significant transcripts that showed measurable expression across at least 80% of 24 ex-periments. The color code of the dendrogram and the sample names represent the origin of the fibroblast strains. The scale ranges from -4 to +4 in log2 space. (Complete dataset for Figure 2.)

Format: JPG Size: 1.6MB Download file

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Additional data file 6:

Array tree correlations for Figure 2.

Format: ATR Size: 1KB Download file

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Additional data file 7:

Complete data table for Figure 2.

Format: CDT Size: 112KB Download file

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Additional data file 8:

Gene tree correlations for Figure 2.

Format: GTR Size: 19KB Download file

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Additional data file 9:

Hierarchical cluster analysis of genes and experiments with different DHT treatment regimens. Shown are the 2862 transcripts that distinguish between normal genital skin fibroblasts and gonadal fibroblasts from 46, XY female AIS patients, and between proliferating and confluent fibroblasts. The color code in the dendrogram depicts the origin of the fibroblast cultures. The gray and white bars on top of the cluster indicate the proliferation state of the samples. On the right, the regions of the cluster diagram are indicated which differentiate between normal and AIS-derived fibroblasts, and proliferating and confluent cells, respectively. No differences in transcript levels could be discerned between DHT treated and control cells in either normal foreskin fibroblasts or fibroblasts from AIS affected 46, XY females. The scale ranges from -8 to +8 in log2 space. (Complete dataset for Figure 3.)

Format: JPG Size: 2MB Download file

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Additional data file 10:

Array tree correlations for Figure 3.

Format: ATR Size: 1KB Download file

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Additional data file 11:

Complete data table for Figure 3.

Format: CDT Size: 138KB Download file

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Additional data file 12:

Gene tree correlations for Figure 3.

Format: GTR Size: 28KB Download file

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Additional data file 13:

Upper half of Figure. Hierarchical cluster analysis of genes and experiments with different DHT treatment regimens. Shown are the 2862 transcripts that distinguish between normal genital skin fibroblasts and gonadal fibroblasts from 46, XY female AIS patients, and between proliferating and confluent fibroblasts. The color code in the dendrogram depicts the origin of the fibroblast cultures. The gray and white bars on top of the cluster indicate the proliferation state of the samples. On the right, the regions of the cluster diagram are indicated which differentiate between normal and AIS-derived fibroblasts, and proliferating and confluent cells, respectively. No differences in transcript levels could be discerned between DHT treated and control cells in either normal foreskin fibroblasts or fibroblasts from AIS affected 46, XY females. The scale ranges from -8 to +8 in log2 space. Complete dataset from which Figure 3 was created.

Format: JPG Size: 5.8MB Download file

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Additional data file 14:

Lower half of Figure. Hierarchical cluster analysis of genes and experiments with different DHT treatment regimens. Shown are the 2862 transcripts that distinguish between normal genital skin fibroblasts and gonadal fibroblasts from 46, XY female AIS patients, and between proliferating and confluent fibroblasts. The color code in the dendrogram depicts the origin of the fibroblast cultures. The gray and white bars on top of the cluster indicate the proliferation state of the samples. On the right, the regions of the cluster diagram are indicated which differentiate between normal and AIS-derived fibroblasts, and proliferating and confluent cells, respectively. No differences in transcript levels could be discerned between DHT treated and control cells in either normal foreskin fibroblasts or fibroblasts from AIS affected 46, XY females. The scale ranges from -8 to +8 in log2 space. Complete dataset from which Figure 3. was created.

Format: JPG Size: 6MB Download file

Open Data

Additional data file 15:

Array tree correlations for the entire dataset.

Format: ATR Size: 1KB Download file

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Additional data file 16:

Complete data table for the entire dataset.

Format: CDT Size: 607KB Download file

Open Data

Additional data file 17:

Gene tree correlations for the entire dataset.

Format: GTR Size: 125KB Download file

Open Data