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Related Concept Videos

Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Some GPCRs transmit signals through adenylyl cyclase (AC), a transmembrane enzyme. AC helps synthesize second messenger cyclic adenosine monophosphate (cAMP). AC catalyzes cyclization reaction and converts ATP to cAMP by releasing a pyrophosphate. The pyrophosphate is further hydrolyzed to phosphate by the enzyme pyrophosphatase, which drives cAMP synthesis to completion. However, cAMP is rapidly degraded to 5′ AMP by the enzymes phosphodiesterase (PDE), preventing overstimulation of...
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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G protein-coupled receptor (GPCR) signaling plays a crucial role in cell functioning. GPCR desensitization is an equally essential process. It allows cells to respond to changing environments and regain sensitivity to new stimuli while preventing unnecessary stimulation when no longer needed. Prolonged exposure to stimuli leads to GPCR desensitization. It involves blocking the receptors from binding and activating additional G proteins. This inhibits activation of downstream effectors, thereby...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Decoding missense variants pleiotropy in the immune GPCR P2RY8.

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Researchers mapped G protein-coupled receptor P2RY8 variants using deep mutational scanning. This study reveals how genetic variations in this immune-regulating receptor can impact B cell function and potentially lead to lymphoma.

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Area of Science:

  • Pharmacology and Drug Discovery
  • Genomics
  • Immunology

Background:

  • G protein-coupled receptors (GPCRs) are crucial cell surface receptors in pharmacology.
  • Understanding GPCR missense variation is vital, especially for immune-regulating receptors.
  • The functional consequences of P2RY8 variants are largely unknown.

Purpose of the Study:

  • To systematically map the functions of P2RY8 variants.
  • To investigate the mechanisms linking GPCR variation to B cell biology and lymphoma.
  • To combine deep mutational scanning with structural biology for GPCR variant analysis.

Main Methods:

  • Deep mutational scanning (DMS) was employed to assess P2RY8 variant functions.
  • Structural biology approaches were integrated with DMS.
  • Functional impacts of missense variations were systematically mapped.

Main Results:

  • The study revealed pleiotropy in P2RY8 variant functions.
  • Mechanisms were identified linking GPCR variation to B cell confinement.
  • A connection between P2RY8 variation and lymphoma was elucidated.

Conclusions:

  • Missense variations in GPCRs, like P2RY8, have significant functional consequences.
  • GPCR variation can influence immune cell behavior and disease pathogenesis.
  • This work provides a framework for studying GPCR variant function in drug discovery.