Psychiatria Danubina · 2009
Human genome variation in health and in neuropsychiatric disorders.
СтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
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Buretić-Tomljanović Alena, Tomljanović Drasko
Аннотация
OBJECTIVES: Variation in the human genome may explain genetic contributions to complex traits and common diseases.
FINDINGS: Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
CONCLUSIONS: Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
FINDINGS: Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
CONCLUSIONS: Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
Предметные рубрики MeSH
Chromosome DeletionChromosome InversionDNA Copy Number VariationsDNA Transposable ElementsEpigenesis, GeneticGene DuplicationGene Expression RegulationGenetic VariationGenome, HumanGenomic Structural VariationHumansInterspersed Repetitive SequencesIntronsMental DisordersPhenotypePolymorphism, Single NucleotidePseudogenesRNA, Untranslated