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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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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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%...
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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.
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Single Nucleotide Polymorphisms-SNPs01:05

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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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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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Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Genetic Variant in ACVR2B Is Associated with Lean Mass.

Yann C Klimentidis1, Jennifer W Bea, Patricia Thompson

  • 11Department of Epidemiology and Biostatistics, Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson, AZ; 2University of Arizona Cancer Center, University of Arizona, Tucson, AZ; 3Department of Nutritional Sciences, University of Arizona, Tucson, AZ; 4Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ; 5Department of Pharmacology and Toxicology, University of Arizona, Tucson, AZ; 6Department of Epidemiology and Pediatrics, University of Iowa, Iowa City, IA.

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Summary

Genetic variations in ACVR2B influence lean mass, a key factor in chronic disease risk. This study identified a specific SNP associated with muscle mass in postmenopausal women.

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Area of Science:

  • Genetics
  • Human Physiology
  • Gerontology

Background:

  • Low lean mass (LM) is a heritable risk factor for chronic disease, disability, and reduced quality of life.
  • Few specific genetic factors influencing LM have been identified.
  • Understanding genetic determinants of LM is crucial for public health.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in candidate genes and LM in postmenopausal women.
  • To identify specific genetic variants that contribute to variations in lean mass.

Main Methods:

  • Examined 1493 SNPs in 155 candidate genes for association with LM in 2760 postmenopausal women (Women's Health Initiative).
  • Assessed LM using dual-energy x-ray absorptiometry.
  • Replicated top findings in a meta-analysis of 20 genome-wide association studies (n = 38,292).

Main Results:

  • Identified 32 SNPs with nominally significant associations with LM in the WHI cohort.
  • Replicated SNP rs2276541 in the activin A receptor, type IIB (ACVR2B) gene, showing a significant association with LM (β = 0.15, P = 2.17 × 10).
  • ACVR2B codes for a receptor of myostatin, a negative regulator of skeletal muscle.

Conclusions:

  • Findings support the role of ACVR2B allelic variation in determining muscle mass.
  • Results extend prior findings on ACVR2B and skeletal muscle mass in diverse populations.
  • Further large-scale studies are needed to confirm these genetic associations across different populations.