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Results: 4

1.
Figure 2

Figure 2. From: Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Ratio of FZD6 transcript levels in 2 46,XY normal males (N-003; N-015) and 46,XX strongly virilized females (P-103; P-105) compared with two 46,XX normal females (N-020; N-031) and two 46,XY females (P-019; P-033) by semi-quantitative RT-PCR. The y-axis reflects the ratios of expression levels of the normal male – and the strongly virilized DSD individuals, respectively, divided through the phenotypic female individuals (normal females and 46,XY-sex reversed females) as indicated. RT-PCR confirms higher expression of FZD6 in virilized individuals.

Paul-Martin Holterhus, et al. BMC Genomics. 2009;10:292-292.
2.
Figure 4

Figure 4. From: Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Gene Set Enrichment Analysis. Enrichment plot is shown for a set of upregulated genes of a transcriptional profile commonly activated in undifferentiated cancer ("CANCER_UNDIFFERENTIATED_META_UP" as compared to differentiated cancer [22]). The enrichment score (ES, green line) reflects the degree to which the gene set is over-represented at the top or bottom of the ranked list of genes. Black bars illustrate the position of genes belonging to the gene set in the ranked list of genes included in the analysis. The ranked list metric shown in gray measures a gene's correlation with a phenotype. A positive value indicates correlation with "normal female "- phenotype, a negative value with "normal male" – phenotype.

Paul-Martin Holterhus, et al. BMC Genomics. 2009;10:292-292.
3.
Figure 3

Figure 3. From: Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

(A) Hierarchical clustering analysis using the 146 transcripts that did not correlate with karyotype. Genes of the two sex chromosome gene clusters (see D and E in Figure 1) were excluded from calculating the dendrograms, but are displayed in the figure to show their distribution across the samples. All color codes are the same as in figure 1. (B) Enlarged dendrogram demonstrating that major subdivision of the individuals mirrors the degree of genital virilization independent of karyotype. (C). Mean Prader stage of genital virilization (± 1 SD) of the DSD individuals the main branches of the dendrogram excluding the normal controls. The mean Prader stage on the left side is Prader "1.6" and "3.2" on the right (p = 0.02) [see also additional files 6, 7, 8, 9].

Paul-Martin Holterhus, et al. BMC Genomics. 2009;10:292-292.
4.
Figure 1

Figure 1. From: Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes.

Hierarchical clustering analysis of 34 microarray experiments on PBMC total RNA derived from 9 normal males, 10 normal females, one 46,XY-male with CAH and 14 individuals with DSD [see additional files 2, 3, 4, 5]. (A) Transcript levels of 157 transcripts identified by SAM as differing significantly between PBMC from 9 normal males and 10 normal females. Transcripts are grouped by hierarchical cluster analysis and displayed in rows while experiments are displayed in columns. Expression values per gene are centered by the mean log2 Cy5/Cy3 normalized ratio across the arrays. Increasing blue intensity in the heat map corresponds to higher relative transcript levels compared to the mean expression level across all 34 array experiments. Increasing yellow intensity corresponds to relatively decreased transcript levels compared to the mean. Dark grey corresponds to missing data. Examples taken from these gene clusters are marked by color within the gene tree on the left of the heat map. The red gene tree corresponds to the enlarged gene cluster D, the blue gene tree corresponds to F, the pink gene tree corresponds to G, and the green gene tree corresponds to E, respectively. Gene symbols of the named transcripts are shown on the right. (B) Enlarged cluster dendrogram of the PBMC samples demonstrating the degree of relatedness (Pearson correlation) between the expression patterns of the 157 transcripts. The length of the arms of the dendrogram reflects the degree of correlation between experiments. Samples are color coded to reflect the degree of external genital virilization according to Prader that had been applied to both XX and XY individuals to enable comparability of genital phenotypes independent of the sex chromosomes. The dark grey bar below the experiment cluster represents individuals with an XX karyotype, light grey represents an XY karyotype. The major subdivison of the individuals corresponds strictly to the karyotype. The second level of subdivision in each of the major arms reflects mostly the phenotype of external genital virilization independent of the karyotype. (C) Schematic representation of the Prader stages of external genital virilization. (D) X-chromosome gene cluster (E) Y-chromosome gene cluster (F) Genes with predominantly higher transcript levels in the phenotypic females and the normal females independent of the karyotype (G) Genes with higher transcript levels in the strongly virilized individuals and the normal males independent of the karyotype.

Paul-Martin Holterhus, et al. BMC Genomics. 2009;10:292-292.

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