scholarly journals Recent Positive Selection in Genes of the Mammalian Epidermal Differentiation Complex Locus

2017 ◽  
Vol 7 ◽  
Author(s):  
Zane A. Goodwin ◽  
Cristina de Guzman Strong
Keyword(s):  
Positive Selection ◽  
Epidermal Differentiation ◽  
Epidermal Differentiation Complex ◽  
Recent Positive Selection ◽  
Complex Locus

scholarly journals Gene density and transcription influence the localization of chromatin outside of chromosome territories detectable by FISH

2002 ◽  
Vol 159 (5) ◽  
pp. 753-763 ◽  
Author(s):  
Nicola L. Mahy ◽  
Paul E. Perry ◽  
Wendy A. Bickmore
Keyword(s):  
Spatial Organization ◽  
Cell Types ◽  
Gene Density ◽  
Epidermal Differentiation ◽  
Chromosome 1 ◽  
Chromosome Territories ◽  
Chromosome 11 ◽  
Epidermal Differentiation Complex ◽  
High Gene ◽  
Complex Locus

Genes can be transcribed from within chromosome territories; however, the major histocompatibilty complex locus has been reported extending away from chromosome territories, and the incidence of this correlates with transcription from the region. A similar result has been seen for the epidermal differentiation complex region of chromosome 1. These data suggested that chromatin decondensation away from the surface of chromosome territories may result from, and/or may facilitate, transcription of densely packed genes subject to coordinate regulation. To investigate whether localization outside of the visible confines of chromosome territories can also occur for regions that are not coordinately regulated, we have examined the spatial organization of human 11p15.5 and the syntenic region on mouse chromosome 7. This region is gene rich but its genes are not coordinately expressed, rather overall high levels of transcription occur in several cell types. We found that chromatin from 11p15.5 frequently extends away from the chromosome 11 territory. Localization outside of territories was also detected for other regions of high gene density and high levels of transcription. This is shown to be partly dependent on ongoing transcription. We suggest that local gene density and transcription, rather than the activity of individual genes, influences the organization of chromosomes in the nucleus.

scholarly journals Epidermal differentiation complex (locus 1q21) gene expression in head and neck cancer and normal mucosa

2014 ◽  
Vol 52 (2) ◽  
pp. 79-89 ◽  
Author(s):  
Tomasz Tyszkiewicz ◽  
Michal Jarzab ◽  
Cezary Szymczyk ◽  
Monika Kowal ◽  
Jolanta Krajewska ◽  
...  
Keyword(s):  
Gene Expression ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Neck Cancer ◽  
Normal Mucosa ◽  
Epidermal Differentiation ◽  
Epidermal Differentiation Complex ◽  
Complex Locus

scholarly journals Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Mary Elizabeth Mathyer ◽  
Erin A. Brettmann ◽  
Alina D. Schmidt ◽  
Zane A. Goodwin ◽  
Inez Y. Oh ◽  
...  
Keyword(s):  
Selective Sweep ◽  
Skin Barrier ◽  
Human Migration ◽  
Epidermal Differentiation ◽  
Human Populations ◽  
Epidermal Differentiation Complex ◽  
Regulatory Module ◽  
Reporter Assays ◽  
Out Of Africa

AbstractThe genetic modules that contribute to human evolution are poorly understood. Here we investigate positive selection in the Epidermal Differentiation Complex locus for skin barrier adaptation in diverse HapMap human populations (CEU, JPT/CHB, and YRI). Using Composite of Multiple Signals and iSAFE, we identify selective sweeps for LCE1A-SMCP and involucrin (IVL) haplotypes associated with human migration out-of-Africa, reaching near fixation in European populations. CEU-IVL is associated with increased IVL expression and a known epidermis-specific enhancer. CRISPR/Cas9 deletion of the orthologous mouse enhancer in vivo reveals a functional requirement for the enhancer to regulate Ivl expression in cis. Reporter assays confirm increased regulatory and additive enhancer effects of CEU-specific polymorphisms identified at predicted IRF1 and NFIC binding sites in the IVL enhancer (rs4845327) and its promoter (rs1854779). Together, our results identify a selective sweep for a cis regulatory module for CEU-IVL, highlighting human skin barrier evolution for increased IVL expression out-of-Africa.

scholarly journals Involvement of transcribed lncRNA uc.291 and SWI/SNF complex in cutaneous squamous cell carcinoma

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
M. Mancini ◽  
A. Cappello ◽  
R. Pecorari ◽  
A. M. Lena ◽  
M. Montanaro ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Expression Patterns ◽  
Chromatin Accessibility ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Epidermal Differentiation ◽  
Differentiation Process ◽  
Clinical Biomarkers ◽  
Epidermal Differentiation Complex

AbstractWhile non-melanoma skin cancers (NMSCs) are the most common tumours in humans, only the sub-type cutaneous squamous cell carcinoma (cSCC), might become metastatic with high lethality. We have recently identified a regulatory pathway involving the lncRNA transcript uc.291 in controlling the expression of epidermal differentiation complex genes via the interaction with ACTL6A, a component of the chromatin remodelling complex SWI/SNF. Since transcribed ultra-conserved regions (T-UCRs) are expressed in normal tissues and are deregulated in tumorigenesis, here we hypothesize a potential role for dysregulation of this axis in cSCC, accounting for the de-differentiation process observed in aggressive poorly differentiated cutaneous carcinomas. We therefore analysed their expression patterns in human tumour biopsies at mRNA and protein levels. The results suggest that by altering chromatin accessibility of the epidermal differentiation complex genes, down-regulation of uc.291 and BRG1 expression contribute to the de-differentiation process seen in keratinocyte malignancy. This provides future direction for the identification of clinical biomarkers in cutaneous SCC. Analysis of publicly available data sets indicates that the above may also be a general feature for SCCs of different origins.

scholarly journals Regulation of the Dynamic Chromatin Architecture of the Epidermal Differentiation Complex Is Mediated by a c-Jun/AP-1-Modulated Enhancer

2014 ◽  
Vol 134 (9) ◽  
pp. 2371-2380 ◽  
Author(s):  
Inez Y. Oh ◽  
Danielle M. Albea ◽  
Zane A. Goodwin ◽  
Ashley M. Quiggle ◽  
Breeana P. Baker ◽  
...  
Keyword(s):  
Epidermal Differentiation ◽  
Chromatin Architecture ◽  
Epidermal Differentiation Complex
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