Chromatin Structure and Modification: Defects

Abstract

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

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Web Links

Ensembl Human Genome Browser http://www.ensembl.org/Homo_sapiens/

GadFly. (Database of Drosophila genes) http://www.fruitfly.org/annot/index.html

Pfam, the Protein Family Database http://www.sanger.ac.uk/Software/Pfam/index.shtml

Schizosaccharomyces pombe Pfam http://www.sanger.ac.uk/Projects/S_pombe/pfindex.shtml

Alpha thalassemia/mental retardation (ATRX syndrome); LocusID: 546. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=546

Cockayne syndrome; Locus ID: 1161. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1161

Coffin–Lowry syndrome; Locus ID: 1210. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1210

ICF syndrome; Locus ID: 1789. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1789

Rett syndrome; Locus ID: 4204. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4204

Rubinstein–Taybi syndrome; Locus ID: 1387. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1387

Schimke immunoosseous dysplasia syndrome; Locus ID: 50485. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=50485

Wolf–Hirschhorn syndrome; Locus ID: 7467. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7467

Alpha thalassemia/mental retardation (ATRX syndrome); MIM number: 300032. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300032

Cockayne syndrome type 2; MIM number: 133540. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?133540

Coffin–Lowry syndrome (CLS); MIM number: 303600. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?303600

ICF syndrome; MIM number: 602900. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602900

Rett syndrome; MIM number: 312750. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?312750

Rubinstein–Taybi syndrome (RSTS); MIM number: 180849. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?180849

Schimke immunoosseous dysplasia; MIM number: 606622. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?606622

Sotos overgrowth syndrome; MIM number: 117550. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?117550

Wolf–Hirschhorn syndrome; MIM number: 602952. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602952

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How to Cite close
Hendrich, Brian(Jan 2006) Chromatin Structure and Modification: Defects. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006071]