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Genome-wide SNP Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event.

ABSTRACT: Affymetrix 10K SNP mapping arrays were used to profile 14 basal cell carcinomas (BCCs) with matched blood DNA samples. Loss of heterozygosity (LOH) and copy number abnormality (CNA) profiles were derived from each tumour-blood pair. Keywords: Genomic DNA on Affymetrix 10K SNP array

ORGANISM(S): Homo sapiens

PROVIDER: GSE2959 | GEO | 2005/07/21

SECONDARY ACCESSION(S): PRJNA92633

REPOSITORIES: GEO

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Genotyping of human basal cell carcinomas unveils uniparental disomy as a key domatic event.

Project description:Affymetrix 10K SNP mapping arrays were used to profile 14 basal cell carcinomas (BCCs) with matched blood DNA samples. Loss of heterozygosity (LOH) and copy number abnormality (CNA) profiles were derived from each tumour-blood pair. Experiment Overall Design: 14 BCC/Blood pairs were used in this study to obtain genome-wide SNP profiles. By comparing tumour and blood DNA, LOH for each SNP could be obtained. Signal intensity for each SNP were used to deternime CNA.

2008-06-12 | E-GEOD-2959 | biostudies-arrayexpress

Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.

Project description:Robertsonian translocations (ROBs) are whole arm rearrangements involving the acrocentric chromosomes 13-15 and 21-22 and carriers are at increased risk for aneuploidy and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted with expression of genes dependent on the parental origin of the chromosome. Correction of a trisomic or monosomic conceptus for chromosomes 14 or 15 would lead to one of the established UPD 14mat/pat or UPD 15 (Prader-Willi/Angelman) syndromes (PWS/AS). In view of this, prenatal UPD testing should be considered for balanced carriers of a ROB, fetuses with a familial or de novo balanced ROB that contains chromosome 14 or 15 or with a normal karyotype when a parent is a carrier of a balanced ROB with a 14 or 15. Individuals with congenital anomalies and an abnormal phenotype and carry a ROB involving the two imprinted chromosomes should also be UPD tested.

| S-EPMC4729106 | biostudies-literature

Transcription profiling of human follicular and transformed follicular lymphoma samples revals genome-wide detection of recurring sites of uniparental disomy

Project description:Follicular lymphoma (FL) is the second most common B-cell malignancy representing one quarter of Non-Hodgkin's Lymphomas. Although the disease has a relatively long median survival, the illness follows a fluctuating course of progression punctuated by remissions of variable duration. For as many as half of patients, transformation to a more aggressive lymphoma (t-FL) may occur; this event is often associated with a particularly poor response to treatment. SNP analysis has revealed the presence of large regions of homozygosity in the absence of copy number change. These events can result in the selection of of daughter cells made homozygous for a pre-existing mutation. We have used SNPs array technology to investigate regions of loss of hetrozygosity in the absence of copy number change in order to establish the contribution of these abnormalities to the evolution of FL and t-FL. Experiment Overall Design: DNA from 26 pairs of follicular and transformed follicular lymphoma samples and 3 cell lines were analysed using Affymetrix 10K SNP arrays. The genotype data of transformed follicular lymphoma samples were compared with the data from the corresponding follicular lymphoma sample.

2008-06-17 | E-GEOD-7425 | biostudies-arrayexpress

Affymetrix SNP array data for pediatric acute myeloid leukemia (AML) samples at diagnosis: Xba SNP array

Project description:Genome-wide profiling of Copy Number Alterations (CNA) and Loss of Heterozygosity (LOH), gene expression and resequencing of pediatric AML. This study characterizes the CNA and LOH in a representative cross-section through subtypes of pediatric AML. Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved diagnostic bone marrow or peripheral blood samples.

2010-01-04 | GSE15732 | GEO

Affymetrix SNP array data for pediatric acute myeloid leukemia (AML) samples at diagnosis: Sty2 SNP array

2010-01-04 | GSE15731 | GEO

Affymetrix SNP array data for pediatric acute myeloid leukemia (AML) samples at diagnosis: Nsp SNP Array

2010-01-04 | GSE15730 | GEO

Affymetrix SNP array data for pediatric acute myeloid leukemia (AML) samples at diagnosis: Hind SNP array

2010-01-04 | GSE15714 | GEO

Upregulation of FOXM1 Induces Genomic Instability in Human Epidermal Keratinocytes

Project description:Genome-wide 10k SNP profiling of FOXM1B-transduced N/TERT and primary normal human epidermal keratinocytes (NHEK). The aim of this study was to study the cancer initiation role of UVB and FOXM1B upregulation in NHEK. Upregulation of FOXM1B alone (without UVB) was found to directly induce genomic instability in the form of copy number aberration (CNA) and low levels of loss of heterozygosity (LOH) in primary NHEK. The FOXM1B-induced CNA was found to be retained and accumulated in subsequent cell culture passages. UVB-exposure resulted in significant chromosomal LOH and CNA in N/TERT cells expressing FOXM1B but not in EGFP-expressing cells. This indicates that UVB corroborated with FOXM1B to recruit LOH and CNA which may predispose cell to malignant transformation. Collectively, these results indicate that aberrant upregulation of FOXM1B in skin keratinocytes following UVB exposure may be an early mechanism whereby cells acquire genomic changes required for oncogenesis. Keywords: Genome-wide SNP profiling for loss of heterozygosity (LOH) and copy number aberration (CNA), FOXM1, UVB, Keratinocytes, Basal cell carcinoma, genomic instability, carcinogenesis, squamous cell carcinoma.

2010-06-28 | GSE16937 | GEO

Cytogenetic contribution to uniparental disomy (UPD).

Project description:Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced karyotype (like e.g. small supernumerary marker chromosomes and Robertsonian translocations) and segmental UPD are reviewed. Furthermore, chromosome fragmentation as a possible mechanism of trisomic rescue is discussed, which might help to explain the observed 1:9 rate of maternal versus paternal UPD present in cases with original trisomic karyotypes. Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail.

| S-EPMC2853554 | biostudies-literature

Reciprocal uniparental disomy in yeast.

Project description:In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleotide polymorphisms while maintaining diploidy. Somatic UPD events are usually explained as reflecting two consecutive nondisjunction events. Here we report a previously undescribed mode of chromosome segregation in Saccharomyces cerevisiae in which one cell division produces daughter cells with reciprocal UPD for the same pair of chromosomes without an aneuploid intermediate. One pair of sister chromatids is segregated into one daughter cell and the other pair is segregated into the other daughter cell, mimicking a meiotic chromosome segregation pattern. We term this process "reciprocal uniparental disomy."

| S-EPMC3382553 | biostudies-other

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