Home > Publications Database > Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. > print

001     136985
005     20240416115857.0
024 7 _ |a 10.1002/humu.22348
|2 doi
024 7 _ |a pmid:23649844
|2 pmid
024 7 _ |a pmc:PMC3714349
|2 pmc
024 7 _ |a 1059-7794
|2 ISSN
024 7 _ |a 1098-1004
|2 ISSN
024 7 _ |a altmetric:81084858
|2 altmetric
037 _ _ |a DZNE-2020-03307
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Giorgio, Elisa
|b 0
245 _ _ |a Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
260 _ _ |a New York, NY [u.a.]
|c 2013
|b Wiley-Liss
264 _ 1 |3 online
|2 Crossref
|b Wiley
|c 2013-05-28
264 _ 1 |3 print
|2 Crossref
|b Wiley
|c 2013-08-01
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
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|s 1713192329_9656
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336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication-based mechanisms such fork stalling and template switching or microhomology-mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients' fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele-specific LMNB1 expression levels.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
|0 G:(DE-HGF)POF3-344
|c POF3-344
|f POF III
|x 0
542 _ _ |i 2015-09-01
|2 Crossref
|u http://doi.wiley.com/10.1002/tdm_license_1.1
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a Lamin Type B
|2 NLM Chemicals
650 _ 7 |a RNA, Messenger
|2 NLM Chemicals
650 _ 7 |a lamin B1
|2 NLM Chemicals
650 _ 7 |a DNA
|0 9007-49-2
|2 NLM Chemicals
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Base Sequence
|2 MeSH
650 _ 2 |a Chromosome Breakpoints
|2 MeSH
650 _ 2 |a Comparative Genomic Hybridization
|2 MeSH
650 _ 2 |a DNA: chemistry
|2 MeSH
650 _ 2 |a DNA: genetics
|2 MeSH
650 _ 2 |a Gene Duplication
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Lamin Type B: genetics
|2 MeSH
650 _ 2 |a Lamin Type B: metabolism
|2 MeSH
650 _ 2 |a Molecular Sequence Data
|2 MeSH
650 _ 2 |a Nucleic Acid Conformation
|2 MeSH
650 _ 2 |a Pelizaeus-Merzbacher Disease: genetics
|2 MeSH
650 _ 2 |a Pelizaeus-Merzbacher Disease: metabolism
|2 MeSH
650 _ 2 |a RNA, Messenger: genetics
|2 MeSH
650 _ 2 |a RNA, Messenger: metabolism
|2 MeSH
700 1 _ |a Rolyan, Harshvardhan
|b 1
700 1 _ |a Kropp, Laura
|b 2
700 1 _ |a Chakka, Anish Baswanth
|b 3
700 1 _ |a Yatsenko, Svetlana
|b 4
700 1 _ |a Di Gregorio, Eleonora
|b 5
700 1 _ |a Lacerenza, Daniela
|b 6
700 1 _ |a Vaula, Giovanna
|b 7
700 1 _ |a Talarico, Flavia
|b 8
700 1 _ |a Mandich, Paola
|b 9
700 1 _ |a Toro, Camilo
|b 10
700 1 _ |a Pierre, Eleonore Eymard
|b 11
700 1 _ |a Labauge, Pierre
|b 12
700 1 _ |a Capellari, Sabina
|b 13
700 1 _ |a Cortelli, Pietro
|b 14
700 1 _ |a Vairo, Filippo Pinto
|b 15
700 1 _ |a Miguel, Diego
|b 16
700 1 _ |a Stubbolo, Danielle
|b 17
700 1 _ |a Marques, Lourenco Charles
|b 18
700 1 _ |a Gahl, William
|b 19
700 1 _ |a Boespflug-Tanguy, Odile
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700 1 _ |a Melberg, Atle
|b 21
700 1 _ |a Hassin-Baer, Sharon
|b 22
700 1 _ |a Cohen, Oren S
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700 1 _ |a Pjontek, Rastislav
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700 1 _ |a Grau, Armin
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700 1 _ |a Klopstock, Thomas
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700 1 _ |a Fogel, Brent
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700 1 _ |a Meijer, Inge
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700 1 _ |a Rouleau, Guy
|b 29
700 1 _ |a Bouchard, Jean-Pierre L
|b 30
700 1 _ |a Ganapathiraju, Madhavi
|b 31
700 1 _ |a Vanderver, Adeline
|b 32
700 1 _ |a Dahl, Niklas
|b 33
700 1 _ |a Hobson, Grace
|b 34
700 1 _ |a Brusco, Alfredo
|0 P:(DE-HGF)0
|b 35
|e Corresponding author
700 1 _ |a Brussino, Alessandro
|b 36
700 1 _ |a Padiath, Quasar Saleem
|b 37
773 1 8 |a 10.1002/humu.22348
|b : Wiley, 2013-05-28
|n 8
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|t Human Mutation
|v 34
|y 2013
|x 1059-7794
773 _ _ |a 10.1002/humu.22348
|g Vol. 34, no. 8, p. 1160 - 1171
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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