Open Access

Proceedings of the National Academy of Sciences (PNAS)

Proceedings of the National Academy of Sciences of the United States of America

, volume 115 , issue 51 , pages 13003-13008

Folate deficiency drives mitotic missegregation of the human FRAXA locus

Victoria A Bjerregaard ¹

Lorenza Garribba ¹

Cynthia T. McMurray ²

Ian D. HICKSON ^{1, 3}

Ying Liu ¹

Hide authors affiliations Show authors affiliations: 3 affiliations

Center for Chromosome Stability, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; |

Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720; |

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark |

Publication type: Journal Article

Publication date: 2018-12-03

Proceedings of the National Academy of Sciences (PNAS)

Proceedings of the National Academy of Sciences of the United States of America

scimago Q1

wos Q1

SJR: 3.414

CiteScore: 16.5

Impact factor: 9.1

ISSN: 00278424, 10916490

DOI: 10.1073/pnas.1808377115

Copy DOI

PubMed ID: 30509972

Multidisciplinary

Abstract

Significance

Dietary folate deficiency is associated with fetal neural tube defects, psychological disorders, and age-associated dementia. However, it remains unclear how folate deficiency could be a causative factor in such a diverse range of disorders. Through analysis of the FRAXA locus, which contains an extensive CGG repeat sequence, we show that folate deprivation triggers extensive mitotic missegregation of the locus. Moreover, the entire chromosome X becomes unstable during a period of long-term folate deprivation. Considering that the human genome contains several loci associated with extensive CGG repeat regions, these findings suggest a mechanism by which folate deficiency contributes to the onset of a wide range of human diseases.

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GOST |

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GOST Copy

Bjerregaard V. A. et al. Folate deficiency drives mitotic missegregation of the human FRAXA locus // Proceedings of the National Academy of Sciences of the United States of America. 2018. Vol. 115. No. 51. pp. 13003-13008.

GOST all authors (up to 50) Copy

Bjerregaard V. A., Garribba L., McMurray C. T., HICKSON I. D., Liu Y. Folate deficiency drives mitotic missegregation of the human FRAXA locus // Proceedings of the National Academy of Sciences of the United States of America. 2018. Vol. 115. No. 51. pp. 13003-13008.

RIS |

Cite this

RIS Copy

TY - JOUR

DO - 10.1073/pnas.1808377115

UR - https://doi.org/10.1073/pnas.1808377115

TI - Folate deficiency drives mitotic missegregation of the human FRAXA locus

T2 - Proceedings of the National Academy of Sciences of the United States of America

AU - Bjerregaard, Victoria A

AU - Garribba, Lorenza

AU - McMurray, Cynthia T.

AU - HICKSON, Ian D.

AU - Liu, Ying

PY - 2018

DA - 2018/12/03

PB - Proceedings of the National Academy of Sciences (PNAS)

SP - 13003-13008

IS - 51

VL - 115

PMID - 30509972

SN - 0027-8424

SN - 1091-6490

ER -

BibTex |

Cite this

BibTex (up to 50 authors) Copy

@article{2018_Bjerregaard,

author = {Victoria A Bjerregaard and Lorenza Garribba and Cynthia T. McMurray and Ian D. HICKSON and Ying Liu},

title = {Folate deficiency drives mitotic missegregation of the human FRAXA locus},

journal = {Proceedings of the National Academy of Sciences of the United States of America},

year = {2018},

volume = {115},

publisher = {Proceedings of the National Academy of Sciences (PNAS)},

month = {dec},

url = {https://doi.org/10.1073/pnas.1808377115},

number = {51},

pages = {13003--13008},

doi = {10.1073/pnas.1808377115}

}

MLA

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MLA Copy

Bjerregaard, Victoria A., et al. “Folate deficiency drives mitotic missegregation of the human FRAXA locus.” Proceedings of the National Academy of Sciences of the United States of America, vol. 115, no. 51, Dec. 2018, pp. 13003-13008. https://doi.org/10.1073/pnas.1808377115.

Publisher

Proceedings of the National Academy of Sciences (PNAS)

Journal

Proceedings of the National Academy of Sciences of the United States of America

scimago Q1

wos Q1

SJR

3.414

CiteScore

16.5

Impact factor

9.1

ISSN

00278424 (Print)

10916490 (Electronic)