Research output: Contribution to journal › Review article › peer-review
Human accelerated regions and other human-specific sequence variations in the context of evolution and their relevance for brain development. / Levchenko, Anastasia; Kanapin, Alexander; Samsonova, Anastasia; Gainetdinov, Raul R.
In: Genome Biology and Evolution, Vol. 10, No. 1, 01.01.2018, p. 166-188.Research output: Contribution to journal › Review article › peer-review
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TY - JOUR
T1 - Human accelerated regions and other human-specific sequence variations in the context of evolution and their relevance for brain development
AU - Levchenko, Anastasia
AU - Kanapin, Alexander
AU - Samsonova, Anastasia
AU - Gainetdinov, Raul R.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - The review discusses, in a format of a timeline, the studies of different types of genetic variants, present in Homo sapiens, but absent in all other primate, mammalian, or vertebrate species, tested so far. The main characteristic of these variants is that they are found in regions of high evolutionary conservation. These sequence variations include single nucleotide substitutions (called human accelerated regions), deletions, and segmental duplications. The rationale for finding such variations in the human genome is that they could be responsible for traits, specific to our species, of which the human brain is the most remarkable. As became obvious, the vast majority of human-specific single nucleotide substitutions are found in noncoding, likely regulatory regions. A number of genes, associated with these human-specific alleles, often through novel enhancer activity, were in fact shown to be implicated in human-specific development of certain brain areas, including the prefrontal cortex. Human-specific deletions may remove regulatory sequences, such as enhancers. Segmental duplications, because of their large size, create new coding sequences, like new functional paralogs. Further functional study of these variants will shed light on evolution of our species, as well as on the etiology of neurodevelopmental disorders.
AB - The review discusses, in a format of a timeline, the studies of different types of genetic variants, present in Homo sapiens, but absent in all other primate, mammalian, or vertebrate species, tested so far. The main characteristic of these variants is that they are found in regions of high evolutionary conservation. These sequence variations include single nucleotide substitutions (called human accelerated regions), deletions, and segmental duplications. The rationale for finding such variations in the human genome is that they could be responsible for traits, specific to our species, of which the human brain is the most remarkable. As became obvious, the vast majority of human-specific single nucleotide substitutions are found in noncoding, likely regulatory regions. A number of genes, associated with these human-specific alleles, often through novel enhancer activity, were in fact shown to be implicated in human-specific development of certain brain areas, including the prefrontal cortex. Human-specific deletions may remove regulatory sequences, such as enhancers. Segmental duplications, because of their large size, create new coding sequences, like new functional paralogs. Further functional study of these variants will shed light on evolution of our species, as well as on the etiology of neurodevelopmental disorders.
KW - Deletions
KW - Duplications
KW - Genes
KW - Neurodevelopmental disorders
KW - Psychiatry
KW - Substitutions
KW - Humans
KW - Regulatory Sequences, Nucleic Acid
KW - Brain/growth & development
KW - Genetic Variation
KW - Animals
KW - Base Sequence
KW - Genome, Human
KW - Evolution, Molecular
UR - http://www.scopus.com/inward/record.url?scp=85044351504&partnerID=8YFLogxK
UR - http://www.mendeley.com/research/human-accelerated-regions-other-humanspecific-sequence-variations-context-evolution-relevance-brain
U2 - 10.1093/gbe/evx240
DO - 10.1093/gbe/evx240
M3 - Review article
AN - SCOPUS:85044351504
VL - 10
SP - 166
EP - 188
JO - Genome Biology and Evolution
JF - Genome Biology and Evolution
SN - 1759-6653
IS - 1
ER -
ID: 34100588