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
