Determination of X-Chromosome Inactivation Status Using X-Linked Expressed Polymorphisms Identified by Database Searching

Kutsche, Reta; Brown, Carolyn J.

doi:10.1006/geno.2000.6153

Cited by 25 publications

(13 citation statements)

References 31 publications

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“…ATP6S1 is the human homolog of a protein first characterized as a putative accessory subunit of the vacuolar H ϩ -ATPase complex in bovine chromaffin granules (11). Consistent with the conserved role of this complex in regulating pH throughout the secretory and endocytic pathways (16), the human protein is related closely to the corresponding molecules from the cow (92% similarity), rat (92% similarity), mouse (90% similarity), and Xenopus (77% similarity) (11,14,(17)(18)(19)(20). A single 2.8-kb transcript was detected by Northern analysis in most human tissues, with slightly increased levels in endocrine organs (Fig.…”

Section: Resultsmentioning

confidence: 76%

ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction

Hodi

Schmollinger

Soiffer

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

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Section: Resultsmentioning

confidence: 76%

ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction

Hodi

Schmollinger

Soiffer

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

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“…Other markers exist, (22,23) and two or three informative markers giving the same answer would substantially increase confidence in the result. The paper by Mahavni et al (21), showing discrepancies between AR and DXS15-134 inactivation, emphasizes the importance of not relying on one locus, and variable methylation of AR at HpaII and HhaI sites has been described in lung cancer cell lines, interfering with enzyme cleavage (24).…”

Section: Discussionmentioning

confidence: 99%

Androgen Receptor Gene Methylation and Exon One CAG Repeat Length in Ovarian Cancer: Differences from Breast Cancer

et al. 2004

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SummaryMore than one neoplastic founder clone can exist in benign epithelial tumours. Although theories of clonal selection make pluriclonality appear unlikely in carcinomas, published data do not exclude this possibility. This study looked for evidence of multiclonal X inactivation in ovarian carcinoma using AR methylation as a marker. Fifteen unifocal ovarian carcinomas and 14 multifocal carcinomas all in Scottish patients were studied. One representative formalin-fixed paraffin-embedded tumour block was chosen for each of the former and two for the latter. From each of these 43 tumour blocks three samples each of *10 4 carcinoma cells were obtained by microdissection (129 in all). DNA released by proteinase K digestion was subjected to PCR amplification of the androgen receptor gene AR exon I CAG repeat polymorphism with and without prior digestion with methylation-sensitive restriction enzymes HpaII and HhaI. Complex amplification patterns were consistent with mosaic X inactivation in some ovarian carcinomas but acquired anomalies of AR methylation cannot be excluded. Parallel analysis of other Xlinked polymorphic loci would strengthen the inference of clonality status from DNA methylation data in tumour X studies. Strikingly, the number of CAG repeats in the 29 ovarian tumour patients (median 16, range 11 -20) was substantially fewer than in 34 previously studied breast cancer patients from the same scottish population (median 21, range 14 -26; P 5 0.0001), and women homozygous for the AR CAG repeat were over-represented in the ovarian cancer patients but not in the breast cancer series. These findings reinforce recent suggestions that AR may have a role in ovarian carcinogenesis.

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“…The SOX3 polymorphism described in this study can be used to identify whether one or two alleles are expressed within heterozygous cell lines. Thus, it might be possible to determine whether SOX3 is X-inactivated and whether differences in gene dosage or skewing of X-inactivation can contribute to disease (Kutsche and Brown 2000;Benjamin et al 2000).…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination

et al. 2000

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Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate for involvement in sexual development is SOX3, which belongs to the same family of proteins (SOX) as SRY and SOX9, both of which are involved in testis differentiation. As SOX3 is the most likely evolutionary precursor to SRY, it has been proposed that it has retained a role in testis differentiation. Therefore, we screened the coding region and the 5' and 3' flanking region of the SOX3 gene for mutations by means of single-stranded conformation polymorphism and heteroduplex analysis in eight subjects with 46, XX sex reversal (SRY negative) and 25 subjects with 46, XY gonadal dysgenesis. Although no mutations were identified, a nucleotide polymorphism (1056C/T) and a unique synonymous nucleotide change (1182A/C) were detected in a subject with 46, XY gonadal dysgenesis. The single nucleotide polymorphism had a heterozygosity rate of 5.1% (in a control population) and may prove useful for future X-inactivation studies. The absence of SOX3 mutations in these patients suggests that SOX3 is not a cause of abnormal male sexual development and might not be involved in testis differentiation.

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Determination of X-Chromosome Inactivation Status Using X-Linked Expressed Polymorphisms Identified by Database Searching

Cited by 25 publications

References 31 publications

ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction

ATP6S1 elicits potent humoral responses associated with immune-mediated tumor destruction

Androgen Receptor Gene Methylation and Exon One CAG Repeat Length in Ovarian Cancer: Differences from Breast Cancer

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination

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