F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4gene.[1][2][3]
This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22.[3]
References
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Ianakiev P, Kilpatrick MW, Dealy C, et al. (1999). "A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24". Biochem. Biophys. Res. Commun. 261 (1): 64–70. doi:10.1006/bbrc.1999.0963. PMID10405324.
Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (2001). "cDNA cloning and expression analysis of new members of the mammalian F-box protein family". Genomics. 67 (1): 40–7. doi:10.1006/geno.2000.6211. PMID10945468.
de Mollerat XJ, Gurrieri F, Morgan CT, et al. (2004). "A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24". Hum. Mol. Genet. 12 (16): 1959–71. doi:10.1093/hmg/ddg212. PMID12913067.
Basel D, DePaepe A, Kilpatrick MW, Tsipouras P (2004). "Split hand foot malformation is associated with a reduced level of Dactylin gene expression". Clin. Genet. 64 (4): 350–4. doi:10.1034/j.1399-0004.2003.00153.x. PMID12974740.
Busino L, Donzelli M, Chiesa M, et al. (2003). "Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage". Nature. 426 (6962): 87–91. doi:10.1038/nature02082. PMID14603323.
Roscioli T, Taylor PJ, Bohlken A, et al. (2004). "The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype". Am. J. Med. Genet. A. 124 (2): 136–41. doi:10.1002/ajmg.a.20348. PMID14699611.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID15164054.
Kang YS, Cheong HM, Moon Y, et al. (2004). "Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM)". Mol. Cells. 17 (3): 397–403. PMID15232212.
Kano H, Kurosawa K, Horii E, et al. (2006). "Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation". Hum. Genet. 118 (3–4): 477–83. doi:10.1007/s00439-005-0074-0. PMID16235095.
Everman DB, Morgan CT, Lyle R, et al. (2006). "Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation". Am. J. Med. Genet. A. 140 (13): 1375–83. doi:10.1002/ajmg.a.31246. PMID16761290.
