Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma DOI Open Access

Karina Zolotareva,

Polina A. Dotsenko,

N. L. Podkolodnyy

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(23), P. 12802 - 12802

Published: Nov. 28, 2024

Primary open-angle glaucoma (POAG) is the most common form of glaucoma. This condition leads to optic nerve degeneration and eventually blindness. Tobacco smoking, alcohol consumption, fast-food diets, obesity, heavy weight lifting, high-intensity physical exercises, many other bad habits are lifestyle-related risk factors for POAG. By contrast, moderate-intensity aerobic exercise Mediterranean diet can alleviate In this work, we first time estimated phylostratigraphic age indices (PAIs) all 153 POAG-related human genes in NCBI Gene Database. allowed us separate them into two groups: that appeared before after phylum Chordata, is, ophthalmologically speaking, camera-type eye evolved. Next, genes’ promoters, silico predicted 3835 candidate SNP markers significantly change TATA-binding protein (TBP) affinity these promoters and, through molecular mechanism, expression levels genes. Finally, verified our results against five independent web services—PANTHER, DAVID, STRING, MetaScape, GeneMANIA—as well as ClinVar database. It was concluded POAG likely be a symptom self-domestication syndrome, downside being civilized.

Language: Английский

Proteomic analysis of liver fibrosis reveals EFEMP1 as a new modulator of focal adhesion and migration of hepatic stellate cells DOI Creative Commons

Célia Thomas,

Fidaa Bouezzedine,

Dominique Bonnier

et al.

The FASEB Journal, Journal Year: 2025, Volume and Issue: 39(7)

Published: April 2, 2025

Abstract Liver fibrosis is characterized by an excessive accumulation of extracellular matrix (ECM) leading to liver dysfunction. Proteomic approaches help decipher ECM alterations during progression. Using a decellularization method, we performed proteomic analysis 18 fibrotic human samples and identified 106 deregulated proteins. Three members the fibulin protein family (fibulin‐2, ‐3, ‐5) expressed hepatic stellate cells were significantly associated with Integrative analyses protein–protein interaction networks highlighted different functional annotations for these three fibulins. Gene silencing studies showed that unlike fibulin‐2 ( FBLN2 ), fibulin‐3 EFEMP1 ) depletion impaired focal adhesions, FAK phosphorylation, fibronectin network, cell migration. These findings are first demonstrate critical involvement in regulation adhesions migration, emphasizing intricate link between chronic disease progression remodeling microenvironment.

Language: Английский

Citations

0
Prevalence of MYOC mutations in a cohort of juvenile open-angle glaucoma (JOAG) patients from Sub-Saharan Africa DOI
Olusola Olawoye,

Brian P. Young,

Angela W. Nyunt

et al.

Ophthalmology Glaucoma, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Language: Английский

Citations

0
Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma DOI Open Access

Karina Zolotareva,

Polina A. Dotsenko,

N. L. Podkolodnyy

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(23), P. 12802 - 12802

Published: Nov. 28, 2024

Primary open-angle glaucoma (POAG) is the most common form of glaucoma. This condition leads to optic nerve degeneration and eventually blindness. Tobacco smoking, alcohol consumption, fast-food diets, obesity, heavy weight lifting, high-intensity physical exercises, many other bad habits are lifestyle-related risk factors for POAG. By contrast, moderate-intensity aerobic exercise Mediterranean diet can alleviate In this work, we first time estimated phylostratigraphic age indices (PAIs) all 153 POAG-related human genes in NCBI Gene Database. allowed us separate them into two groups: that appeared before after phylum Chordata, is, ophthalmologically speaking, camera-type eye evolved. Next, genes’ promoters, silico predicted 3835 candidate SNP markers significantly change TATA-binding protein (TBP) affinity these promoters and, through molecular mechanism, expression levels genes. Finally, verified our results against five independent web services—PANTHER, DAVID, STRING, MetaScape, GeneMANIA—as well as ClinVar database. It was concluded POAG likely be a symptom self-domestication syndrome, downside being civilized.

Language: Английский

Citations

0