Study of cohesin functions in Cornelia de Lange Syndrome
Study of cohesin functions in Cornelia de Lange Syndrome Mutations in the cohesin loader, NIPBL/ In addition to its canonical role in sister chromatid cohesion, cohesin is implicated in the spatial organization of the genome. Here, we investigate the transcriptome of CdLS patient-derived primary
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A regulatory role for the cohesin loader NIPBL in
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Defects of cohesin loader lead to bone dysplasia
Cohesin loader nipped-B-like protein (Nipbl) is increasingly recognized for its important role in development and cancer. Cornelia de Lange Syndrome (CdLS), mostly caused by heterozygous mutations of Nipbl, is an autosomal dominant disease …
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A regulatory role for the cohesin loader NIPBL in
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. DNA double strand breaks (DSBs) are mainly repaired via homologous recombination (HR) or nonhomologous end joining (NHEJ).
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(PDF) Regulation of the cohesin-loading factor NIPBL: Role
Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome
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A regulatory role for the cohesin loader NIPBL in
Nov 01, 2013 · A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination Publication Publication. The Journal of Experimental Medicine, Volume 210 - Issue 12 p. 2503- 2513
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A regulatory role for the cohesin loader NIPBL in
2508 The cohesin loader NIPBL regulates NHEJ during CSR | Enervald et al. was sign i cant ly inc reas ed in Cernunn os- a nd NIP BL-de cient cells when compared with the controls (T able 2).
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A regulatory role for the cohesin loader NIPBL in
Thus, NIPBL may regulate NHEJ by recruiting 53BP1 to the DSB sites, but it is likely that interactions between NIPBL and the DNA damage response factors are complex and that factors in addition to 53PB1 may also influence the function of NIPBL in NHEJ. Given that cohesin and NIPBL have been shown to regulate gene expression, an indirect effect caused by …
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Regulation of the cohesin-loading factor NIPBL: Role of
Nov 18, 2013 · Read "A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination, The Journal of Experimental Medicine" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. DNA double strand breaks (DSBs) are mainly repaired …
Get a quoteRoles of NIPBL in maintenance of genome stability
Nov 18, 2013 · A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. 1. J Exp Med. 2013 Nov 18;210 (12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21.
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A regulatory role for the cohesin loader NIPBL in - CORE
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. we observed a strong correlation between heterozygous loss-of-function mutations in the gene encoding the cohesin loading protein NIPBL and a shift toward the use of an alternative, microhomology-based end joining
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Independent mechanisms recruit the cohesin loader protein
NIPBL is required to load the cohesin complex on to DNA. While the canonical role of cohesin is to couple replicated sister chromatids together until the onset of mitosis, it also promotes tolerance to DNA damage. Here, we show that NIPBL is recruited to DNA damage throughout the cell cycle via independent mechanisms, influenced by type of damage.
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A regulatory role for the cohesin loader NIPBL in
2504 The cohesin loader NIPBL regulates NHEJ during CSR | Enervald et al. in NIPBL, SMC1A, SMC3 (Schoumans et al., 2007), MAU2, or PDS5B (Fig. 1 A and Table 1). For comparison, LCLs or FBs from healthy individuals, radiation-sensitive patients (ATM- or Cernunnos-deficient), and a Roberts syndrome (RBS) pa-tient were also evaluated.
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(PDF) A regulatory role for the cohesin loader NIPBL in
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination October 2013 Journal of …
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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
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mRNA Quantification of NIPBL Isoforms A and B in Adult and
Feb 23, 2017 · A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. J. Exp. Med. 2013; 210:2503–2513. doi: 10.1084/jem.20130168. [PMC free article] [Google Scholar] 17. Dorsett D. Cohesin, gene expression and development: Lessons from Drosophila.
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Regulation of the cohesin-loading factor NIPBL: Role of
tion of cohesin with DNA critically depends on the cohesin-loading factor NIPBL [4,5,6]. However, NIPBL is also involved in gene regulation, independent on its role for cohesin [7,8]. NIPBL is the gene that is most frequently (>60% of cases, OMIM 122470) found to be mutated in the human developmental disorder Cornelia de Lange syndrome (CdLS, 1 of
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(PDF) A regulatory role for the cohesin loader NIPBL in
Nov 01, 2013 · A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination: Published in: The Journal of Experimental Medicine, 210(12), 2503 - 2513. ISSN 00221007. Author
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A regulatory role for the cohesin loader NIPBL in (2013
Cohesin loader nipped-B-like protein (Nipbl) is increasingly recognized for its important role in development and cancer. Cornelia de Lange Syndrome (CdLS), mostly caused by heterozygous mutations of Nipbl, is an autosomal dominant disease …
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Localisation of the SMC loading complex Nipbl/Mau2 during
Nov 28, 2013 · In spermatocytes, we could observe significant overlap in staining between cohesin, condensin I and Nipbl/Mau2 during zygotene, consistent with a role for Nipbl/Mau2 as a loader of these complexes. After mid-pachytene, however, there was little overlap in staining indicating that when at chromocentres, Nipbl/Mau2 does not load detectable levels
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