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Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene. / Gridina, Maria M.; Matveeva, Natalia M.; Fishman, Veniamin S. et al.

In: Molecular Neurobiology, Vol. 55, No. 8, 01.08.2018, p. 6533-6546.

Research output: Contribution to journal › Article › peer-review

Harvard

Gridina, MM, Matveeva, NM, Fishman, VS, Menzorov, AG, Kizilova, HA, Beregovoy, NA, Kovrigin, II, Pristyazhnyuk, IE, Oscorbin, IP, Filipenko, ML, Kashevarova, AA, Skryabin, NA, Nikitina, TV, Sazhenova, EA, Nazarenko, LP, Lebedev, IN & Serov, OL 2018, 'Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene', Molecular Neurobiology, vol. 55, no. 8, pp. 6533-6546. https://doi.org/10.1007/s12035-017-0851-5

APA

Gridina, M. M., Matveeva, N. M., Fishman, V. S., Menzorov, A. G., Kizilova, H. A., Beregovoy, N. A., Kovrigin, I. I., Pristyazhnyuk, I. E., Oscorbin, I. P., Filipenko, M. L., Kashevarova, A. A., Skryabin, N. A., Nikitina, T. V., Sazhenova, E. A., Nazarenko, L. P., Lebedev, I. N., & Serov, O. L. (2018). Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene. Molecular Neurobiology, 55(8), 6533-6546. https://doi.org/10.1007/s12035-017-0851-5

Vancouver

Gridina MM, Matveeva NM, Fishman VS, Menzorov AG, Kizilova HA, Beregovoy NA et al. Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene. Molecular Neurobiology. 2018 Aug 1;55(8):6533-6546. doi: 10.1007/s12035-017-0851-5

Author

Gridina, Maria M. ; Matveeva, Natalia M. ; Fishman, Veniamin S. et al. / Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene. In: Molecular Neurobiology. 2018 ; Vol. 55, No. 8. pp. 6533-6546.

BibTeX

@article{5411779f633d4924ad7f665ad779f98a,
title = "Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene",
abstract = "Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human neuropathologies is associated with the inaccessibility of brain material. This problem can be overcome through the use of reprogramming technologies that permit the generation of induced pluripotent stem (iPS) cells from fibroblasts and their subsequent in vitro differentiation into neurons. We obtained a set of iPS cell lines derived from a patient carrier of the CNTN6 gene duplication and from two healthy donors. All iPS cell lines displayed the characteristics of pluripotent cells. Some iPS cell lines derived from the patient and from healthy donors were differentiated in vitro by exogenous expression of the Ngn2 transcription factor or by spontaneous neural differentiation of iPS cells through the neural rosette stage. The obtained neurons showed the characteristics of mature neurons as judged by the presence of neuronal markers and by their electrophysiological characteristics. Analysis of allele-specific expression of the CNTN6 gene in these neuronal cells by droplet digital PCR demonstrated that the level of expression of the duplicated allele was significantly reduced compared to that of the wild-type allele. Importantly, according to the sequencing data, both copies of the CNTN6 gene, which were approximately 1 Mb in size, showed no any additional structural rearrangements.",
keywords = "3p26.3 microduplication, Allele-specific expression, CNTN6 gene, in vitro neural differentiation, Induced pluripotent stem cells, Intellectual disability, HUMAN ES, AUTISM, FUNCTIONAL-NEURONS, MOUSE, SINGLE-GENE, CONTACTINS, PLURIPOTENT STEM-CELLS, CHL1, COPY NUMBER VARIANTS, CELL/FIBROBLAST HYBRID-CELLS",
author = "Gridina, {Maria M.} and Matveeva, {Natalia M.} and Fishman, {Veniamin S.} and Menzorov, {Aleksei G.} and Kizilova, {Helen A.} and Beregovoy, {Nikolay A.} and Kovrigin, {Igor I.} and Pristyazhnyuk, {Inna E.} and Oscorbin, {Igor P.} and Filipenko, {Maxim L.} and Kashevarova, {Anna A.} and Skryabin, {Nikolay A.} and Nikitina, {Tatyana V.} and Sazhenova, {Elena A.} and Nazarenko, {Ludmila P.} and Lebedev, {Igor N.} and Serov, {Oleg L.}",
note = "Publisher Copyright: {\textcopyright} 2017, Springer Science+Business Media, LLC, part of Springer Nature.",
year = "2018",
month = aug,
day = "1",
doi = "10.1007/s12035-017-0851-5",
language = "English",
volume = "55",
pages = "6533--6546",
journal = "Molecular Neurobiology",
issn = "0893-7648",
publisher = "Humana Press",
number = "8",

}

RIS

TY - JOUR

T1 - Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene

AU - Gridina, Maria M.

AU - Matveeva, Natalia M.

AU - Fishman, Veniamin S.

AU - Menzorov, Aleksei G.

AU - Kizilova, Helen A.

AU - Beregovoy, Nikolay A.

AU - Kovrigin, Igor I.

AU - Pristyazhnyuk, Inna E.

AU - Oscorbin, Igor P.

AU - Filipenko, Maxim L.

AU - Kashevarova, Anna A.

AU - Skryabin, Nikolay A.

AU - Nikitina, Tatyana V.

AU - Sazhenova, Elena A.

AU - Nazarenko, Ludmila P.

AU - Lebedev, Igor N.

AU - Serov, Oleg L.

N1 - Publisher Copyright: © 2017, Springer Science+Business Media, LLC, part of Springer Nature.

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human neuropathologies is associated with the inaccessibility of brain material. This problem can be overcome through the use of reprogramming technologies that permit the generation of induced pluripotent stem (iPS) cells from fibroblasts and their subsequent in vitro differentiation into neurons. We obtained a set of iPS cell lines derived from a patient carrier of the CNTN6 gene duplication and from two healthy donors. All iPS cell lines displayed the characteristics of pluripotent cells. Some iPS cell lines derived from the patient and from healthy donors were differentiated in vitro by exogenous expression of the Ngn2 transcription factor or by spontaneous neural differentiation of iPS cells through the neural rosette stage. The obtained neurons showed the characteristics of mature neurons as judged by the presence of neuronal markers and by their electrophysiological characteristics. Analysis of allele-specific expression of the CNTN6 gene in these neuronal cells by droplet digital PCR demonstrated that the level of expression of the duplicated allele was significantly reduced compared to that of the wild-type allele. Importantly, according to the sequencing data, both copies of the CNTN6 gene, which were approximately 1 Mb in size, showed no any additional structural rearrangements.

AB - Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of neurodevelopmental disorders, including intellectual disability and developmental delay. Surprisingly, patients with different copy numbers of this gene display notable overlapping of neuropsychiatric symptoms. The complexity of the study of human neuropathologies is associated with the inaccessibility of brain material. This problem can be overcome through the use of reprogramming technologies that permit the generation of induced pluripotent stem (iPS) cells from fibroblasts and their subsequent in vitro differentiation into neurons. We obtained a set of iPS cell lines derived from a patient carrier of the CNTN6 gene duplication and from two healthy donors. All iPS cell lines displayed the characteristics of pluripotent cells. Some iPS cell lines derived from the patient and from healthy donors were differentiated in vitro by exogenous expression of the Ngn2 transcription factor or by spontaneous neural differentiation of iPS cells through the neural rosette stage. The obtained neurons showed the characteristics of mature neurons as judged by the presence of neuronal markers and by their electrophysiological characteristics. Analysis of allele-specific expression of the CNTN6 gene in these neuronal cells by droplet digital PCR demonstrated that the level of expression of the duplicated allele was significantly reduced compared to that of the wild-type allele. Importantly, according to the sequencing data, both copies of the CNTN6 gene, which were approximately 1 Mb in size, showed no any additional structural rearrangements.

KW - 3p26.3 microduplication

KW - Allele-specific expression

KW - CNTN6 gene

KW - in vitro neural differentiation

KW - Induced pluripotent stem cells

KW - Intellectual disability

KW - HUMAN ES

KW - AUTISM

KW - FUNCTIONAL-NEURONS

KW - MOUSE

KW - SINGLE-GENE

KW - CONTACTINS

KW - PLURIPOTENT STEM-CELLS

KW - CHL1

KW - COPY NUMBER VARIANTS

KW - CELL/FIBROBLAST HYBRID-CELLS

UR - http://www.scopus.com/inward/record.url?scp=85040320411&partnerID=8YFLogxK

U2 - 10.1007/s12035-017-0851-5

DO - 10.1007/s12035-017-0851-5

M3 - Article

C2 - 29327201

AN - SCOPUS:85040320411

VL - 55

SP - 6533

EP - 6546

JO - Molecular Neurobiology

JF - Molecular Neurobiology

SN - 0893-7648

IS - 8

ER -

ID: 9266405