Chromatin Structure and Modification: Defects


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


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Web Links

Ensembl Human Genome Browser

GadFly. (Database of Drosophila genes)

Pfam, the Protein Family Database

Schizosaccharomyces pombe Pfam

Alpha thalassemia/mental retardation (ATRX syndrome); LocusID: 546. LocusLink:

Cockayne syndrome; Locus ID: 1161. LocusLink:

Coffin–Lowry syndrome; Locus ID: 1210. LocusLink:

ICF syndrome; Locus ID: 1789. LocusLink:

Rett syndrome; Locus ID: 4204. LocusLink:

Rubinstein–Taybi syndrome; Locus ID: 1387. LocusLink:

Schimke immunoosseous dysplasia syndrome; Locus ID: 50485. LocusLink:

Wolf–Hirschhorn syndrome; Locus ID: 7467. LocusLink:

Alpha thalassemia/mental retardation (ATRX syndrome); MIM number: 300032. OMIM:‐post/Omim/dispmim?300032

Cockayne syndrome type 2; MIM number: 133540. OMIM:‐post/Omim/dispmim?133540

Coffin–Lowry syndrome (CLS); MIM number: 303600. OMIM:‐post/Omim/dispmim?303600

ICF syndrome; MIM number: 602900. OMIM:‐post/Omim/dispmim?602900

Rett syndrome; MIM number: 312750. OMIM:‐post/Omim/dispmim?312750

Rubinstein–Taybi syndrome (RSTS); MIM number: 180849. OMIM:‐post/Omim/dispmim?180849

Schimke immunoosseous dysplasia; MIM number: 606622. OMIM:‐post/Omim/dispmim?606622

Sotos overgrowth syndrome; MIM number: 117550. OMIM:‐post/Omim/dispmim?117550

Wolf–Hirschhorn syndrome; MIM number: 602952. OMIM:‐post/Omim/dispmim?602952

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