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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Heterotrimeric G proteins are guanine nucleotide-binding proteins. As the name suggests, heterotrimeric G proteins are composed of three subunits: alpha, beta, and gamma. They remain GDP-bound or GTP-bound inside the cells and switch between inactive/active states. The Gα subunit possesses the nucleotide-binding pocket that binds guanine nucleotides and switches between GDP or GTP-bound states. In contrast, the Gꞵ and Gγ subunits are always bound together with high...
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Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
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The Ras Gene02:38

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
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Guanine nucleotide-binding proteins (G-proteins), also known as GTPases, are a superfamily of proteins that regulate many cellular processes, such as cell signaling, vesicular transport, and the regulation of cell shape and motility. Mutation or dysfunction of these proteins can lead to disease. There are around 40,000 known G-proteins that can broadly be classified into two groups ‒  small G-proteins consisting of a single domain and large multi-domain G-proteins.
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G Protein–Coupled Receptors (GPCRs) are membrane-bound receptors that transiently associate with heterotrimeric G proteins and induce an appropriate response to various stimuli. GPCRs regulate critical physiological pathways and are excellent drug targets for treating diseases such as diabetes, cancer, obesity, depression, or Alzheimer's. Nearly 35% of approved drugs implement their therapeutic effects by selectively interacting with specific GPCRs.
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Human Neural Organoids for Studying Brain Cancer and Neurodegenerative Diseases
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G4-associated human diseases.

Nancy Maizels1

  • 1University of Washington, Seattle, WA, USA maizels@u.washington.edu.

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|July 8, 2015
PubMed
Summary
This summary is machine-generated.

G-quadruplexes are linked to human diseases like ALS and FTD. Understanding these DNA structures is key for developing new diagnostics and treatments.

Keywords:
ALSFTDG4helicasequadruplex

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Area of Science:

  • Genomic biology
  • Molecular biology
  • Human genetics

Background:

  • G-quadruplexes are non-canonical DNA structures with emerging roles in disease.
  • Genomic instability is associated with specific quadruplex structural features.
  • Quadruplexes are implicated in the regulation of genes linked to human genetic disorders.

Purpose of the Study:

  • To review recent advances in understanding G-quadruplexes and their connection to human diseases.
  • To highlight the role of G-quadruplexes in genomic instability and gene regulation.
  • To discuss the implications of G-quadruplex research for disease prevention, diagnosis, and treatment.

Main Methods:

  • Literature review of recent research on G-quadruplexes in human disease.
  • Analysis of studies linking G-quadruplex structures to genomic instability.
  • Examination of research on quadruplexes as regulatory targets in genetic diseases.

Main Results:

  • Clear links established between G-quadruplexes and human diseases.
  • Specific quadruplex features promoting genomic instability identified.
  • The GGGGCC motif in C9ORF72, forming a G4 structure, is implicated in ALS and FTD.
  • Quadruplexes add spatial and temporal dimensions to genetic information beyond the B-form DNA duplex.

Conclusions:

  • G-quadruplexes are significant players in human disease mechanisms.
  • Understanding quadruplexes challenges traditional views of genomic biology.
  • Advances in G-quadruplex research have practical implications for clinical applications in neurodegenerative diseases.