No gene copy number changes in Dupuytren's contracture by array comparative genomic hybridization

Whole genome and global expression profiling of Dupuytren's disease: systematic review of current findings and future perspectives

“…Several chromosomal regions have been associated with DD from genetic linkage and association studies, including comparative genomic hybridisation,39–41 genome-wide family linkage,42 and case–control whole genome association studies 43 44. Genes within significantly associated loci were compared with the differentially expressed genes reported in the gene expression profiling studies.…”

Unique microRNA profile in Dupuytren's contracture supports deregulation of β-catenin pathway

“…Of the 29 samples, we studied 17 for gene copy number changes using an oligonucleotide-array CGH method as previously described. 16 We used standard cell cultured fibroblasts (ATCC cell line: CRL-2088) and normal palmar fascia as control samples from which we extracted total RNA. Although it is not easy to acquire normal healthy palmar fascia, considering availability and ethical issues, a small number of control palmar fascias were obtainable from two healthy, non-smoking males with hand trauma (age 25 and 46 years) and two females with median nerveneurolysis in the carpal tunnel, the carpal tunnel fascia being the transverse ligament beneath the actual palmar fascia.…”

“…7 Several studies have investigated the molecular pathogenesis of Dupuytren's contracture. These include gene-expression profiling, 5,[8][9][10][11][12] cytogenetic profiling, [13][14][15][16] and proteomic profiling. 17 These studies have identified genes that may potentially be involved in its pathogenesis.…”

Genome-Wide High-Resolution Screening in Dupuytren's Disease Reveals Common Regions of DNA Copy Number Alterations

“…Each of the 3 copy number alterations was observed in a different patient with DD. The 3 genomic alterations are located on chromosomes 10q22.3 (82,084,886 bp to 82,105,011bp), 16p12.1 (22,979,208 bp to 23,025,167 bp) and 17p12 (13,124,272 bp to 13,171, 228 bp), with the former 2 regions covering partial sequences for DPY30 domain containing 1 (DYDC1) and ubiquitin specific peptidase 31 (USP31), respectively. The chromosome 16 CNV also falls within a larger region deleted in patients with 16p11.2-p12.2 microdeletion syndrome.…”

“…The lysed tissues were transferred to a fresh microcentrifuge tube and processed using the QIAamp DNA mini kit (Qiagen GmbH, Hilden, Germany), as recommended by the Agilent Technologies aCGH protocol. 22 DNA quality was assessed using a NanoDrop ND-1000 UV/Vis spectrophotometer (Thermo Fisher Scientific Inc, Wilmington, DE). All samples reached the required purity specification of A260/A280 ratio of 1.8 to 2.0 and an A260/A230 ratio of Ͼ2.0.…”