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Related Concept Videos

Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Pleiotropy01:33

Pleiotropy

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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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
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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.
GWAS does not require the identification of the target gene involved in...
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Assessment of DNA Contamination in RNA Samples Based on Ribosomal DNA
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Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.

Francisco Rodriguez-Algarra1, Elliott Whittaker1, Sandra Del Castillo Del Rio1

  • 1The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology
|January 21, 2025
PubMed
Summary
This summary is machine-generated.

Human ribosomal DNA (rDNA) variation, including copy number and sequence changes, is a key factor in understanding complex human traits. Further research into rDNA variation mechanisms is crucial for explaining trait differences.

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Area of Science:

  • Genetics
  • Human Phenotypes
  • Molecular Biology

Background:

  • Genome-scale analyses offer insights into genetic variability and human phenotypes.
  • Significant trait variation remains unexplained by current genomic understanding.
  • Repetitive elements, like ribosomal DNA (rDNA), are increasingly recognized as potential contributors to this variation.

Purpose of the Study:

  • To review current knowledge on human ribosomal DNA (rDNA) variation.
  • To explore the causes and phenotypic associations of rDNA variability.
  • To highlight technical challenges and propose solutions for studying rDNA variation.

Main Methods:

  • Literature review of recent studies on human rDNA variation.
  • Analysis of reported causes of rDNA variability (copy number, structure, sequence).
  • Examination of associations between rDNA variation and human phenotypes.

Main Results:

  • Ribosomal DNA (rDNA) is not uniform within species, exhibiting substantial variability within and across individuals.
  • This variation includes differences in copy number, structural arrangement, and sequence.
  • Reported associations exist between rDNA variation and human phenotypes.

Conclusions:

  • Human rDNA variation is a significant factor influencing phenotypic outcomes.
  • Addressing technical challenges is essential for advancing the field.
  • Further experimental approaches are needed to elucidate the mechanisms linking rDNA variation to phenotypes.