Редактирование: DSG1 (раздел)

==Publications==

{{medline-entry
|title=Genetic effects on information processing speed are moderated by age--converging results from three samples.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24629169
|abstract=Information processing is a cognitive trait forming the basis of complex abilities like executive function. The Trail Making Test (TMT) is a well-established test of information processing with moderate to high heritability. Age of the individual also plays an important role. A number of genetic association studies with the TMT have been performed, which, however, did not consider age as a moderating factor. We report the results of genome-wide association studies (GWASs) on age-independent and age-dependent TMT performance in two population-representative community samples (Munich Antidepressant Response Signature, MARS: N1 = 540; Ludwig Maximilians University, LMU: N2 = 350). Age-dependent genome-wide findings were then evaluated in a third sample of healthy elderly subjects (Sydney Memory and Ageing Study, Sydney MAS: N3 = 448). While a meta-analysis on the GWAS findings did not reveal age-independent TMT associations withstanding correction for multiple testing, we found a genome-wide significant age-moderated effect between variants in the [[DSG1]] gene region and TMT-A performance predominantly reflecting visual processing speed (rs2199301, P(meta-analysis) = 1.3 × 10(-7)). The direction of the interaction suggests for the minor allele a beneficial effect in younger adults turning into a detrimental effect in older adults. The detrimental effect of the missense single nucleotide polymorphism rs1426310 within the same [[DSG1]] gene region could be replicated in Sydney MAS participants aged 70-79, but not in those aged 80 years and older, presumably a result of survivor bias. Our findings demonstrate opposing effects of [[DSG1]] variants on information processing speed depending on age, which might be related to the complex processes that [[DSG1]] is involved with, including cell adhesion and apoptosis.
|mesh-terms=* Adult
* Aged
* Aged, 80 and over
* Aging
* Desmoglein 1
* Executive Function
* Female
* Genome-Wide Association Study
* Humans
* Male
* Middle Aged
* Polymorphism, Single Nucleotide
|keywords=* Age
* DSG1
* GWAS
* Trail Making Test
* information processing
* processing speed
|full-text-url=https://sci-hub.do/10.1111/gbb.12132
}}
{{medline-entry
|title=Expression of pemphigus-autoantigen desmoglein 1 in human thymus.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18331528
|abstract=Desmoglein (Dsg) 1 is a transmembrane glycoprotein of the desmosome allowing cell-cell adhesion between keratinocytes, whose expression is restricted to stratified squamous epithelia-like epidermis. Dsg1 is the target autoantigen of pathogenic autoantibodies produced by pemphigus foliaceus and 50% of pemphigus vulgaris patients in a Dsg1-specific T-cell-dependent pathway. Herewith, we show that mRNA of the [[DSG1]] gene is present in normal human thymus and show by quantitative real-time polymerase chain reaction analysis that the expression of [[DSG1]] transcript increases with age. Although immunoblot analysis on human thymus extracts using different anti-Dsg1 antibodies did not allow to detect the protein, we show by double-immunofluorescence assay that Dsg1 is expressed at protein level by CD19  CD63  cells located in the medulla. These data provide another illustration of the thymic expression of a tissue-specific autoantigen involved in an organ-specific autoimmune disease, which may participate in the tolerance acquisition and/or regulation of Dsg1-specific T cells.
|mesh-terms=* Adolescent
* Adult
* Aging
* Autoantigens
* Autoimmunity
* Child
* Child, Preschool
* Desmoglein 1
* Epidermal Cells
* Epidermis
* Female
* Humans
* Infant
* Infant, Newborn
* Keratinocytes
* Male
* Middle Aged
* Pemphigus
* Thymus Gland

|full-text-url=https://sci-hub.do/10.1111/j.1399-0039.2008.01020.x
}}