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Related Concept Videos

Mutations01:39

Mutations

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Comparing Copy Number Variations and SNPs02:26

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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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for

Paul D Thomas1, Anish Kejariwal

  • 1Informatics and Computational Biology, Applied Biosystems, 850 Lincoln Centre Drive, Foster City, CA 94404, USA. paul.thomas@appliedbiosystems.com

Proceedings of the National Academy of Sciences of the United States of America
|October 20, 2004
PubMed
Summary

Mendelian and complex disease mutations differ significantly at the molecular level. Mendelian disease coding SNPs impact protein function severely, unlike complex disease coding SNPs which resemble normal human variation.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Mendelian diseases often result from single amino acid changes.
  • Complex diseases are increasingly linked to coding single-nucleotide polymorphisms (cSNPs).
  • This suggests potential molecular similarities between Mendelian and complex diseases.

Purpose of the Study:

  • To compare Mendelian and complex disease-associated cSNPs using evolutionary analyses.
  • To investigate the functional impact of these cSNPs on protein function.
  • To assess the validity of using Mendelian diseases as models for complex diseases at the molecular level.

Main Methods:

  • Amino acid substitution scores from protein alignments and hidden Markov models.
  • Ka/Ks ratios to compare evolutionary pressures at the gene level.
  • Comparison of cSNPs associated with Mendelian diseases, complex diseases, and normal human variation.

Main Results:

  • Mendelian disease cSNPs predominantly occur at highly conserved amino acid positions, indicating severe functional impact.
  • Complex disease cSNPs show distributions similar to normal human variation, not Mendelian disease cSNPs.
  • Genes associated with complex diseases exhibit higher positive selection (or less negative selection) pressures.

Conclusions:

  • Mendelian and complex disease-associated cSNPs have distinct molecular effects on protein function.
  • Complex disease cSNPs do not appear to have as severe a functional impact as Mendelian disease cSNPs.
  • Caution is advised when using Mendelian diseases as models for complex diseases regarding molecular protein function.