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E-GEOD-70859 - The effects of TGM1 Mutations in HEK293T and HaCaT cells

Status
Released on 31 December 2015, last updated on 3 January 2016
Organism
Homo sapiens
Samples (10)
Array (1)
Protocols (5)
Description
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare inherited skin disorders characterized by remarkable hyperkeratosis. Transglutaminase 1 (TGM1) mutations have been reported to be involved in four different phenotypes of ARCI, including lamellar ichthyosis (LI), non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit ichthyosis (BSI), and self-improving collodion ichthyosis (SICI) according to the clinical presentation and histopathology. TGM1 has been found as a defective gene in a large amount of patients with LI and some patients with NBCIE, BSI and SICI. To further understand the effect of TGM1 mutations in epidermal cells development, we performed the transcriptome analysis of HEK293T and HaCaT cells transfected with TGM1 shRNA, TGM1 wild-type and mutant clones. The transcriptomic analysis revealed the effects of TGM1 on cell-cell interaction by suppressing genes involved in the gap junctions, tight junctions and desmosomes. These findings suggested that the TGM1 deficiency disturbed the balance of keratinocytes proliferation and differentiation processes and impaired the epithelial barrier function. The results provided the basis for further understanding on the etiology of ARCI. To explore the functional impacts on some of the TGM1mutations identified, we cloned and transfected the TGM1 wild type and mutant clones into HEK293T and HaCaT cells. R142C and R348X sequence mutations observed in ARCI (Autosomal recessive congenital ichthyosis) patients were generated. The shRNA targeting TGM1 and a scrambled negative control were obtained from Invitrogen (Carlsbad, CA). The293T and HaCaT cells were transfected with over-expression clones carry either wild-type or mutated TGM1sequence. Cells were harvested 48 hours post-transfection.
Experiment type
transcription profiling by array 
Contacts
Juanjuan Lin, Kai Wang, Kang Zeng, Taek-Kyun Kim, Xibao Zhang, Xin Tian, Xuemei Li, Yuqing He, Zhihua Wu
Files
Investigation descriptionE-GEOD-70859.idf.txt
Sample and data relationshipE-GEOD-70859.sdrf.txt
Raw data (1)E-GEOD-70859.raw.1.zip
Processed data (1)E-GEOD-70859.processed.1.zip
Array designA-GEOD-16699.adf.txt
Links