Паттерн метилирования ДНК в участках генома с наследуемыми CNV
Аннотация
Об авторах
Н. А. СкрябинРоссия
С. А. Васильев
Россия
Е. Н. Толмачева
Россия
А. Р. Шорина
Россия
Р. Р. Савченко
Россия
А. А. Кашеварова
Россия
И. Н. Лебедев
Россия
Список литературы
1. Hochstenbach R, Buizer-Voskamp JE, Vorstman JAS et al. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workflow and research. Cytogenet Genome Res. 2011;135(3-4):174-202.
2. Persico AM, Napolioni V. Autism genetics. Behav Brain Research. 2013; 251:95-112.
3. Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 2007;8(8):639-46.
4. Lee C, Scherer SW. The clinical context of copy number variation in the human genome. Expert Rev Mol Med. 2010;12(March):e8.
5. Smith AC, Suzuki M, Thompson R, et al. Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression. Genomics. 2012;99(1):25-35.
6. Gimelli S, Capra V, Di Rocco M, et al. Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders. Mol Cytogenet. 2014;7:54.
7. Bertelsen B, Melchior L, Jensen LR et al. Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome. Eur J Hum Genet. 2014;22(11):1283-1289.
8. Jjingo D, Conley AB, Yi SV et al. On the presence and role of human gene-body DNA methylation. Oncotarget. 2012;3(4):462-474.
Рецензия
Для цитирования:
Скрябин Н.А., Васильев С.А., Толмачева Е.Н., Шорина А.Р., Савченко Р.Р., Кашеварова А.А., Лебедев И.Н. Паттерн метилирования ДНК в участках генома с наследуемыми CNV. Медицинская генетика. 2017;16(12):27-30.
For citation:
Skryabin N.A., Vasiliev S.A., Tolmacheva E.N., Shorina A.R., Savchenko R.R., Kashevarova A.A., Lebedev I.N. DNA methylation pattern in regions of the genome with inherited CNV. Medical Genetics. 2017;16(12):27-30. (In Russ.)