Human genome variation in health and in neuropsychiatric disorders.
OBJECTIVE
Variation in the human genome may explain genetic contributions to complex traits and common diseases.


RESULTS
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.
Buretić-Tomljanović
Alena
A
Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Croatia. alena@medri.hr
Tomljanović
Drasko
D
D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics; D056915:DNA Copy Number Variations; D004251:DNA Transposable Elements / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics; D020440:Gene Duplication; D005786:Gene Expression Regulation / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D056914:Genomic Structural Variation / Q000235:genetics*; D006801:Humans; D020071:Interspersed Repetitive Sequences / Q000235:genetics; D007438:Introns / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics
D004251:DNA Transposable Elements; D022661:RNA, Untranslated