| VAN DER CRABBEN, Saskia, Marije HENNUS, Grant MCGREGOR, Deborah RITTER, Sandesh NAGAMANI, Owen WELLS, Magdalena HARAKALOVA, Ivan CHINN, Aaron ALT, Lucie VONDROVÁ, Ron HOCHSTENBACH, Joris VAN MONTFRANS, Suzanne TERHEGGEN-LAGRO, Stef VAN LIESHOUT, Markus VAN ROOSMALEN, Ivo RENKENS, Karen DURAN, Isaac NIJMAN, Wigard KLOOSTERMAN, Eric HENNEKAM, Jordan ORANGE, Peter VAN HASSELT, David WHEELER, Jan PALEČEK, Alan LEHMANN, Antony William OLIVER, Laurence PEARL, Sharon PLON, Johanne MURRAY a Gijs VAN HAAFTEN. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Journal of Clinical Investigation. Ann Arbor: AMER SOC CLINICAL INVESTIGATION INC, 2016, roč. 126, č. 8, s. 2881-2892. ISSN 0021-9738. Dostupné z: https://dx.doi.org/10.1172/JCI82890. |
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@article{1354532,
author = {van der Crabben, Saskia and Hennus, Marije and McGregor, Grant and Ritter, Deborah and Nagamani, Sandesh and Wells, Owen and Harakalova, Magdalena and Chinn, Ivan and Alt, Aaron and Vondrová, Lucie and Hochstenbach, Ron and van Montfrans, Joris and TerheggenandLagro, Suzanne and van Lieshout, Stef and van Roosmalen, Markus and Renkens, Ivo and Duran, Karen and Nijman, Isaac and Kloosterman, Wigard and Hennekam, Eric and Orange, Jordan and van Hasselt, Peter and Wheeler, David and Paleček, Jan and Lehmann, Alan and Oliver, Antony William and Pearl, Laurence and Plon, Sharon and Murray, Johanne and van Haaften, Gijs},
article_location = {Ann Arbor},
article_number = {8},
doi = {http://dx.doi.org/10.1172/JCI82890},
keywords = {STALLED REPLICATION FORKS; DOUBLE-STRAND BREAKS; HUMAN CELL STRAINS; DNA-REPAIR; HOMOLOGOUS RECOMBINATION; ATAXIA-TELANGIECTASIA; LIGASE ACTIVITY; GENE; PROTEINS; IDENTIFICATION},
language = {eng},
issn = {0021-9738},
journal = {Journal of Clinical Investigation},
title = {Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease},
url = {https://www.jci.org/articles/view/82890},
volume = {126},
year = {2016}
}
TY - JOUR
ID - 1354532
AU - van der Crabben, Saskia - Hennus, Marije - McGregor, Grant - Ritter, Deborah - Nagamani, Sandesh - Wells, Owen - Harakalova, Magdalena - Chinn, Ivan - Alt, Aaron - Vondrová, Lucie - Hochstenbach, Ron - van Montfrans, Joris - Terheggen-Lagro, Suzanne - van Lieshout, Stef - van Roosmalen, Markus - Renkens, Ivo - Duran, Karen - Nijman, Isaac - Kloosterman, Wigard - Hennekam, Eric - Orange, Jordan - van Hasselt, Peter - Wheeler, David - Paleček, Jan - Lehmann, Alan - Oliver, Antony William - Pearl, Laurence - Plon, Sharon - Murray, Johanne - van Haaften, Gijs
PY - 2016
TI - Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
JF - Journal of Clinical Investigation
VL - 126
IS - 8
SP - 2881-2892
EP - 2881-2892
PB - AMER SOC CLINICAL INVESTIGATION INC
SN - 00219738
KW - STALLED REPLICATION FORKS
KW - DOUBLE-STRAND BREAKS
KW - HUMAN CELL STRAINS
KW - DNA-REPAIR
KW - HOMOLOGOUS RECOMBINATION
KW - ATAXIA-TELANGIECTASIA
KW - LIGASE ACTIVITY
KW - GENE
KW - PROTEINS
KW - IDENTIFICATION
UR - https://www.jci.org/articles/view/82890
L2 - https://www.jci.org/articles/view/82890
N2 - The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. Four children from two unrelated kindreds died of severe pulmonary disease during infancy following viral pneumonia with evidence of combined T and B cell immunodeficiency. Whole exome sequencing revealed biallelic missense mutations in the NSMCE3 (also known as NDNL2) gene, which encodes a subunit of the SMC5/6 complex that is essential for DNA damage response and chromosome segregation. The NSMCE3 mutations disrupted interactions within the SMC5/6 complex, leading to destabilization of the complex. Patient cells showed chromosome rearrangements, micronuclei, sensitivity to replication stress and DNA damage, and defective homologous recombination. This work associates missense mutations in NSMCE3 with an autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory distress syndrome in early childhood.
ER -
VAN DER CRABBEN, Saskia, Marije HENNUS, Grant MCGREGOR, Deborah RITTER, Sandesh NAGAMANI, Owen WELLS, Magdalena HARAKALOVA, Ivan CHINN, Aaron ALT, Lucie VONDROVÁ, Ron HOCHSTENBACH, Joris VAN MONTFRANS, Suzanne TERHEGGEN-LAGRO, Stef VAN LIESHOUT, Markus VAN ROOSMALEN, Ivo RENKENS, Karen DURAN, Isaac NIJMAN, Wigard KLOOSTERMAN, Eric HENNEKAM, Jordan ORANGE, Peter VAN HASSELT, David WHEELER, Jan PALEČEK, Alan LEHMANN, Antony William OLIVER, Laurence PEARL, Sharon PLON, Johanne MURRAY a Gijs VAN HAAFTEN. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. \textit{Journal of Clinical Investigation}. Ann Arbor: AMER SOC CLINICAL INVESTIGATION INC, 2016, roč.~126, č.~8, s.~2881-2892. ISSN~0021-9738. Dostupné z: https://dx.doi.org/10.1172/JCI82890.
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