Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

Dorsett, Dale

doi:10.1007/s00412-006-0072-6

Cited by 143 publications

(154 citation statements)

References 107 publications

(157 reference statements)

Supporting

Mentioning

149

Contrasting

Order By: Relevance

“…They also showed that cohesin binds to cut in multiple cell types and that a unique pds5 mutation that reduces binding of cohesin to chromosomes increases cut expression (Dorsett et al 2005). Combined, these findings and the genetic linkage between Nipped-B's roles in gene expression and sister chromatid cohesion reported here support the hypothesis that Nipped-B facilitates cut expression by alleviating negative effects of cohesin (Dorsett 2004(Dorsett , 2007. This model suggests that cohesin binding to cut inhibits expression and by maintaining a dynamic cohesin chromosome-binding equilibrium, Nipped-B facilitates cohesin removal or relocation.…”

Section: Nipped-b Heat Repeat Mutations Link Nipped-b's Roles In Genesupporting

confidence: 75%

“…Like the Nipped-B family, cohesin also has roles besides sister chromatid cohesion in meiosis, DNA repair, gene expression, and human development (reviewed in Dorsett 2007;Nasmyth and Haering 2005;Hagstrom and Meyer 2003;Hirano 2006;Revenkova and Jessberger 2006). Thus, a central question is whether regulation of cohesin also explains the functions of the Nipped-B family proteins in gene expression and meiosis.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

et al. 2007

Self Cite

View full text Add to dashboard Cite

Drosophila Nipped-B is an essential protein that has multiple functions. It facilitates expression of homeobox genes and is also required for sister chromatid cohesion. Nipped-B is conserved from yeast to man, and its orthologs also play roles in deoxyribonucleic acid repair and meiosis. Mutation of the human ortholog, Nipped-B-Like (NIPBL), causes Cornelia de Lange syndrome (CdLS), associated with multiple developmental defects. The Nipped-B protein family is required for the cohesin complex that mediates sister chromatid cohesion to bind to chromosomes. A key question, therefore, is whether the Nipped-B family regulates gene expression, meiosis, and development by controlling cohesin. To gain insights into Nipped-B's functions, we compared the effects of several Nipped-B mutations on gene expression, sister chromatid cohesion, and meiosis. We also examined association of Nipped-B and cohesin with somatic and meiotic chromosomes by immunostaining. Missense Nipped-B alleles affecting the same HEAT repeat motifs as CdLS-causing NIPBL mutations have intermediate effects on both gene expression and mitotic chromatid cohesion, linking these two functions and the role of NIPBL in human development. Nipped-B colocalizes extensively with cohesin on chromosomes in both somatic and meiotic cells and is present in soluble complexes

show abstract

Section: Nipped-b Heat Repeat Mutations Link Nipped-b's Roles In Genesupporting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

et al. 2007

Self Cite

View full text Add to dashboard Cite

show abstract

“…Although the requirement of cohesin for sister chromatid cohesion after DNA replication during S-phase is well documented, its function in transcription regulation is unknown (25). Previous studies in yeast, Drosophila, and zebrafish suggest that cohesin influences transcription.…”

Section: Discussionmentioning

confidence: 99%

CTCF physically links cohesin to chromatin

Rubio¹,

Reiss

Welcsh³

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

449

382

View full text Add to dashboard Cite

Cohesin is required to prevent premature dissociation of sister chromatids after DNA replication. Although its role in chromatid cohesion is well established, the functional significance of cohesin's association with interphase chromatin is not clear. Using a quantitative proteomics approach, we show that the STAG1 (Scc3/ SA1) subunit of cohesin interacts with the CCTC-binding factor CTCF bound to the c-myc insulator element. Both allele-specific binding of CTCF and Scc3/SA1 at the imprinted IGF2/H19 gene locus and our analyses of human DM1 alleles containing base substitutions at CTCF-binding motifs indicate that cohesin recruitment to chromosomal sites depends on the presence of CTCF. A large-scale genomic survey using ChIP-Chip demonstrates that Scc3/SA1 binding strongly correlates with the CTCF-binding site distribution in chromosomal arms. However, some chromosomal sites interact exclusively with CTCF, whereas others interact with Scc3/SA1 only. Furthermore, immunofluorescence microscopy and ChIP-Chip experiments demonstrate that CTCF associates with both centromeres and chromosomal arms during metaphase. These results link cohesin to gene regulatory functions and suggest an essential role for CTCF during sister chromatid cohesion. These results have implications for the functional role of cohesin subunits in the pathogenesis of Cornelia de Lange syndrome and Roberts syndromes.cohesion ͉ transcription ͉ insulator ͉ centromere ͉ metaphase

show abstract

“…CdLS patients display slow growth, mental retardation, and defects in limbs and organs (Dorsett 2007;Jackson et al 1993;Strachan 2005). Most do not show cohesion defects (Kaur et al 2005;Vrouwe et al 2007), suggesting that the diverse developmental deficits are caused by gene expression changes similar to those in Drosophila.…”

Section: Introductionmentioning

confidence: 99%

Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

et al. 2007

Self Cite

View full text Add to dashboard Cite

show abstract

Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

Cited by 143 publications

References 107 publications

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

CTCF physically links cohesin to chromatin

Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

Contact Info

Product

Resources

About