Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

Current Opinion in Genetics and Development

Volumn 15, Issue 3 SPEC. ISS., 2005, Pages 258-264

  Strachan, Tom ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; DELANGIN; DOUBLE STRANDED DNA; GENE PRODUCT; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; CHROMATID ABERRATION; CHROMOSOME ABERRATION; COGNITIVE DEFECT; COMPLEX FORMATION; DE LANGE SYNDROME; DEVELOPMENTAL GENETICS; DNA REPAIR; FACE MALFORMATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC REGULATION; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; MUTAGENESIS; NIPBL GENE; NONHUMAN; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MOTIF; REVIEW; SEQUENCE HOMOLOGY;

BACTERIA (MICROORGANISMS); VERTEBRATA;

EID: 19444365725     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2005.04.005     Document Type: Review

References (42)

1. L. Jackson, A.D. Kline, M.A. Barr, and S. Koch de Lange syndrome: a clinical review of 310 individuals Am J Med Genet 47 1993 940 946
2. M. Ireland, D. Donnai, and J. Burn Brachmann-de Lange syndrome: delineation of the clinical phenotype Am J Med Genet 47 1993 959 964
3. K.L. Russell, J.E. Ming, K. Patel, L. Jukofsky, M. Magnusson, and I.D. Krantz Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences Am J Med Genet 104 2001 267 276
4. E.T. Tonkin, M. Smith, P. Eichhorn, S. Jones, B. Imamwerdi, S. Lindsay, M. Jackson, T-J. Wang, M. Ireland, and J. Burn A giant novel gene undergoing extensive alternative processing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 Hum Genet 115 2004 139 148
5. B.G. Kousseff, P. Newkirk, and A.W. Root Brachmann-de Lange syndrome. 1994 update Arch Pediatr Adolesc Med 148 1994 749 755
6. P. Steinbach, W.N. Adkins Jr., H. Caspar, K.W. Dumars, J. Gebauer, E.F. Gilbert, T. Grimm, M. Habedank, I. Hansmann, and J. Herrmann The dup(3q) syndrome: report of eight cases and review of the literature Am J Med Genet 10 1981 159 177
7. P. Rizzu, B.R. Haddad, I. Vallcorba, A. Alonso, M.T. Ferro, J.M. Garcia-Sagredo, and A. Baldini Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region Am J Med Genet 68 1997 428 432
8. I.D. Krantz, E. Tonkin, M. Smith, M. Devoto, A. Bottani, C. Simpson, M. Hofreiter, V. Abraham, L. Jukofsky, B.P. Conti, T. Strachan, and L. Jackson Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome Am J Med Genet 101 2001 120 129
9. ••] report basic wholemount expression (see Glossary) patterns for mouse Nipbl.
10. ••].
11. L.A. Gillis, J. McCallum, M. Kaur, C. DeScipio, D. Yaeger, A. Mariani, A.D. Kline, H.H. Li, M. Devoto, and L.G. Jackson NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations Am J Hum Genet 75 2004 610 623
12. G. Borck, R. Redon, D. Sanlaville, M. Rio, M. Prieur, S. Lyonnet, M. Vekemans, N.P. Carter, A. Munnich, L. Colleaux, and V. Cormier-Daire NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome J Med Genet 41 2004 e128
13. M. Krajewska-Walasek, K. Chrzanowska, A. Tylki-Szymanska, and M. Bialecka A further report of Brachmann-de Lange syndrome in two sibs with normal parents Clin Genet 47 1995 324 327
14. •] provided the first evidence that the SCC function of fungal homologues of delangin is conserved in vertebrates. The authors showed that loading of cohesins onto chromatin is linked to licensing of DNA replication.
15. A.F. Neuwald, and T. Hirano HEAT repeats associated with condensins, cohesins, and other complexes involved in chromosome-related functions Genome Res 10 2000 1445 1452
16. C. Michaelis, R. Ciosk, and K. Nasmyth Cohesins: chromosomal proteins that prevent premature separation of sister chromatids Cell 91 1997 35 45
17. 1 phase Genes Dev 12 1998 3408 3418
18. L.C. Seitz, K. Tang, W.J. Cummings, and M.E. Zolan The rad9 gene of Coprinus cinereus encodes a proline-rich protein required for meiotic chromosome condensation and synapsis Genetics 142 1996 1105 1117
19. W.J. Cummings, S.T. Merino, K.G. Young, L. Li, C.W. Johnson, E.A. Sierra, and M.E. Zolan The Coprinus cinereus adherin Rad9 functions in Mre11-dependent DNA repair, meiotic sister chromatid cohesion, and meiotic homolog pairing Proc Natl Acad Sci USA 99 2002 14958 14963
20. R. Ciosk, M. Shirayama, A. Shevchenko, T. Tanaka, A. Toth, A. Shevchenko, and K. Nasmyth Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins Mol Cell 5 2000 243 254
21. T. Tomonaga, K. Nagao, Y. Kawasaki, K. Furuya, A. Murakami, J. Morishita, T. Yuasa, T. Sutani, S.E. Kearsey, and F. Uhlmann Characterization of fission yeast cohesin: essential anaphase proteolysis of Rad21 phosphorylated in the S phase Genes Dev 14 2000 2757 2770
22. K. Tanaka, Z. Hao, M. Kai, and H. Okayama Establishment and maintenance of sister chromatid cohesion in fission yeast by a unique mechanism EMBO J 20 2001 5779 5790
23. S.W. Wang, R.L. Read, and C.J. Norbury Fission yeast Pds5 is required for accurate chromosome segregation and for survival after DNA damage or metaphase arrest J Cell Sci 115 2002 587 598
24. P. Arumugam, S. Gruber, K. Tanaka, C.H. Haering, K. Mechtler, and K. Nasmyth ATP hydrolysis is required for cohesin's association with chromosomes Curr Biol 13 2003 1941 1953
25. •].
26. J.S. Kim, T.B. Krasieva, V. LaMorte, A.M. Taylor, and K. Yokomori Specific recruitment of human cohesin to laser-induced DNA damage J Biol Chem 277 2002 45149 45153
27. C. Sjogren, and K. Nasmyth Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae Curr Biol 11 2001 991 995
28. •].
29. 2 phase in budding yeast is crucially dependent on loading of cohesins and so on the Scc2-Scc4 loading machinery. In response to DNA damage, the Mec1 and Tel1 checkpoint kinases phosphorylate the variant histone H2AX, and cohesin binding to phosphorylated H2AX is enabled by Scc2 and the repair complex protein Mre11.
30. R.A. Rollins, P. Morcillo, and D. Dorsett Nipped-B, a Drosophila homologue of chromosomal adherins participates in activation by remote enhancers in the cut and Ultrabithorax genes Genetics 152 1999 577 593
31. R.A. Rollins, M. Korom, N. Aulner, A. Martens, and D. Dorsett Drosophila Nipped-B protein supports sister chromatid cohesion and opposes the Stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene Mol Cell Biol 24 2004 3100 3111 The authors provide the first evidence that the SCC function of fungal homologues of delangin is conserved in metazoans. They also show that fly Nipped-B and cohesin subunits are antagonistic with respect to developmental gene regulation and propose a model whereby Nipped-B facilitates enhancer-promoter interaction by overcoming cohesin blocking of such interaction.
32. A. Lengronne, Y. Katou, S. Mori, S. Yokobayashi, G.P. Kelly, T. Itoh, Y. Watanabe, K. Shirahige, and F. Uhlmann Cohesin relocation from sites of chromosomal loading to places of convergent transcription Nature 430 2004 573 578
33. Glynn EF, Megee PDC, Yu H-G, Mistro C, Unal E, Koshland DE, DeRisi JL, Gerton JL: Genome-wide mapping of the cohesin complex in the yeast Saccharomyces cerevisiae. PLoS Biol, 2:e259.
34. C.H. Haering, and K. Nasmyth Building and breaking bridges between sister chromatids Bioessays 25 2003 1178 1191
35. A. Schleiffer, S. Kaitna, S. Maurer-Stroh, M. Glotzer, K. Nasmyth, and F. Eisenhaber Kleisins: a superfamily of bacterial and eukaryotic SMC protein partners Mol Cell 11 2003 571 575
36. E. Dervyn, M.F. Noirot-Gros, P. Mervelet, S. McGovern, S.D. Ehrlich, P. Polard, and P. Noirot The bacterial condensin/cohesin-like protein complex acts in DNA repair and regulation of gene expression Mol Microbiol 51 2004 1629 1640
37. K.A. Hagstrom, and B.J. Meyer Condensin and cohesin: more than chromosome compactor and glue Nat Rev Genet 4 2003 520 534
38. Y. Mito, A. Sugimoto, and M. Yamamoto Distinct developmental function of two Caenorhabditis elegans homologs of the cohesin subunit Scc1/Rad21 Mol Biol Cell 14 2003 2399 2409
39. M. Trimborn, S.M. Bell, C. Felix, Y. Rashid, H. Jafri, P.D. Griffiths, L.M. Neumann, A. Krebs, A. Reis, and K. Sperling Mutations in microcephalin cause aberrant regulation of chromosome condensation Am J Hum Genet 75 2004 261 266
40. X. Xu, J. Lee, and D.F. Stern Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1 J Biol Chem 279 2004 34091 34094
41. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K et al.: Roberts syndrome is caused by mutations in ESCO2, a human homologue of S. cerevisiae ECO1/CTF7 essential for the establishment of sister chromatid cohesion. Nat Genet (in press).
42. Y. Toyoda, K. Furuya, G. Goshima, K. Nagao, K. Takahashi, and M. Yanagida Requirement of chromatid cohesion proteins rad21/scc1 and mis4/scc2 for normal spindle-kinetochore interaction in fission yeast Curr Biol 12 2002 347 358