Brian Hendrich, University of Edinburgh, Edinburgh, UK
Published online: January 2006
DOI: 10.1038/npg.els.0006071
The human genome has evolved a large number of different proteins capable of interacting with or modulating chromatin structure required to ensure the proper regulation of gene expression. Human genetic disease may result from mutation or misexpression of these chromatin proteins.
Keywords: chromatin; deoxyribonucleic acid; human genetic disease; cancer; epigenetics
| References | |
| Bird A (2002) DNA methylation patterns and epigenetic memory. Genes and Development 16: 6–21. | |
| Bourc'his D and Bestor TH (2002) Helicase homologues maintain cytosine methylation in plants and mammals. BioEssays 24: 297–299. | |
| Hendrich B and Bickmore W (2001) Human diseases with underlying defects in chromatin structure and modification. Human Molecular Genetics 10: 2233–2242. | |
| Jenuwein T and Allis CD (2001) Translating the histone code. Science 293: 1074–1080. | |
| Luger K, Mader AW, Richmond RK, Sargent DF and Richmond TJ (1997) Crystal structure of the nucleosome core particle at 2.8 Å resolution. Nature 389: 251–260. | |
| Peterson CL and Workman JL (2000) Promoter targeting and chromatin remodeling by the SWI/SNF complex. Current Opinion in Genetics and Development 10: 187–192. | |
| Stec I, Wright TJ, van Ommen GJ, et al. (1998) WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Human Molecular Genetics 7: 1071–1082. | |
| Warburton PE (2001) Epigenetic analysis of kinetochore assembly on variant human centromeres. Trends in Genetics 17: 243–247. | |
| Wolffe AP and Pruss D (1996) Deviant nucleosomes: the functional specialization of chromatin. Trends in Genetics 12: 58–62. | |
| Further Reading | |
| Amir RE, Van Den Veyver IB, Wan M, Tran CQ, Francke U and Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nature Genetics 23: 185–188. | |
| Bestor TH (1998) Methylation meets acetylation. Nature 393: 311–312. | |
| Bird A (2002) DNA methylation patterns and epigenetic memory. Genes and Development 16: 6–21. | |
| Felsenfeld G and Groudine M (2003) Controlling the double helix. Nature 421: 448–453. | |
| Giles RH, Peters DJ and Breuning MH (1998) Conjunction dysfunction: CBP/p300 in human disease. Trends in Genetics 14: 178–183. | |
| Hansen RS, Wijmenga C, Luo P, et al. (1999) The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proceedings of the National Academy of Sciences of the United States of America 96: 14412–14417. | |
| Hendrich B (2000) Methylation moves into medicine. Current Biology 10: R60–63. | |
| Hendrich B and Bird A (2000) Mammalian methyltransferases and methyl-CpG-binding domains: proteins involved in DNA methylation. Current Topics in Microbioloy and Immunology 249: 55–74. | |
| Kerr AM, Nomura Y, Armstrong D, et al. (2001) Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Development 23: 208–211. | |
| Milne TA, Briggs SD, Brock HW, et al. (2002) MLL targets SET domain methyltransferase activity to Hox gene promoters. Molecular Cell 10: 1107–1117. | |
| Nakamura T, Mori T, Tada S, et al. (2002) ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation. Molecular Cell 10: 1119–1128. | |
| Okano M, Bell DW, Haber DA and Li E (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99: 247–257. | |
| Picketts DJ, Higgs DR, Bachoo S, et al. (1996) ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Human Molecular Genetics 5: 1899–1907. | |
| Roberts CW, Galusha SA, McMenamin ME, Fletcher CD and Orkin SH (2000) Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proceedings of the National Academy of Sciences of the United States of America 97: 13796–13800. | |
| Trivier E, De Cesare D, Jacquot S, et al. (1996) Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384: 567–570. | |
| Willard HF and Hendrich BD (1999) Breaking the silence in Rett syndrome. Nature Genetics 23: 127–128. | |
| Xu G-L, Bestor TH, Bourc'his D, et al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187–191. | |
| Web Links | |
| ePath Ensembl Human Genome Browser http://www.ensembl.org/Homo_sapiens/ | |
| ePath GadFly. (Database of Drosophila genes) http://www.fruitfly.org/annot/index.html | |
| ePath Pfam, the Protein Family Database http://www.sanger.ac.uk/Software/Pfam/index.shtml | |
| ePath Schizosaccharomyces pombe Pfam http://www.sanger.ac.uk/Projects/S_pombe/pfindex.shtml | |
| ePath Alpha thalassemia/mental retardation (ATRX syndrome); LocusID: 546. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=546 | |
| ePath Cockayne syndrome; Locus ID: 1161. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1161 | |
| ePath Coffin–Lowry syndrome; Locus ID: 1210. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1210 | |
| ePath ICF syndrome; Locus ID: 1789. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1789 | |
| ePath Rett syndrome; Locus ID: 4204. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4204 | |
| ePath Rubinstein–Taybi syndrome; Locus ID: 1387. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1387 | |
| ePath Schimke immunoosseous dysplasia syndrome; Locus ID: 50485. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=50485 | |
| ePath Wolf–Hirschhorn syndrome; Locus ID: 7467. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7467 | |
| ePath Alpha thalassemia/mental retardation (ATRX syndrome); MIM number: 300032. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300032 | |
| ePath Cockayne syndrome type 2; MIM number: 133540. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?133540 | |
| ePath Coffin–Lowry syndrome (CLS); MIM number: 303600. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?303600 | |
| ePath ICF syndrome; MIM number: 602900. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602900 | |
| ePath Rett syndrome; MIM number: 312750. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?312750 | |
| ePath Rubinstein–Taybi syndrome (RSTS); MIM number: 180849. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?180849 | |
| ePath Schimke immunoosseous dysplasia; MIM number: 606622. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606622 | |
| ePath Sotos overgrowth syndrome; MIM number: 117550. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?117550 | |
| ePath Wolf–Hirschhorn syndrome; MIM number: 602952. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602952 | |
Copyright © 2000-2013 by John Wiley & Sons, Inc., or related companies. All rights reserved.
