CHD7 subfamily

The CHD7 subfamily includes four human genes, CHD6-CHD9. CHD7 has recently been linked to CHARGE syndrome which is a common cause of congenital abnormalities 1 with most linked mutations resulting in major nonsense, frameshift or splicing changes 2. There is little functional information available about CHD6 (originally known as CHD5 3), CHD8 or CHD9 (also known as CReMM 4).

The most studied member of the CHD7 subfamily is the product of the D melanogaster gene kismet. The enormous 574kDa KIS-L (but not the ‘smaller’ 225kDa KIS-S form) contains a Snf2 family helicase-like region 5. Although identified as a trithorax family gene acting during development, a recent report suggests that KIS-L may play a global role at an early stage in RNA pol II elongation 6.

names associated with subfamily members
CHD6, RIGB, KISH2, Kis-L, kismet, CHD8, HELSNF1, DUPLIN
references
1: Vissers, L. E., C. M. van Ravenswaaij, et al. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9): 955-7. PubMed
2: Jongmans, M., R. Admiraal, et al. (2005). CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. PubMed
3: Schuster, E. F. and R. Stoger (2002). CHD5 defines a new subfamily of chromodomain-SWI2/SNF2-like helicases. Mamm Genome 13(2): 117-9. PubMed
4: Shur, I. and D. Benayahu (2005). Characterization and Functional Analysis of CReMM, a Novel Chromodomain Helicase DNA-binding Protein. J Mol Biol 352(3): 646-55. PubMed
5: Daubresse, G., R. Deuring, et al. (1999). The Drosophila kismet gene is related to chromatin-remodeling factors and is required for both segmentation and segment identity. Development 126(6): 1175-87. PubMed
6: Srinivasan, S., J. A. Armstrong, et al. (2005). The Drosophila trithorax group protein Kismet facilitates an early step in transcriptional elongation by RNA Polymerase II. Development 132(7): 1623-35. PubMed