2010
DOI: 10.4161/cc.9.4.10780
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Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma

Abstract: Classical Hodgkin lymphoma (cHL) is a cancer in which malignant “Reed-Sternberg” cells comprise just a fraction of the bulk of the tumor and are characteristically binucleated. We recently identified a novel gene, KLHDC8B, which appears responsible for some familial cases of cHL. KLHDC8B encodes a midbody kelch protein expressed during cytokinesis. Deficiency of KLHDC8B leads to binucleated cells, implicating its involvement in Reed-Sternberg cell formation. Interestingly, other cancer genes, such as BRCA1 and… Show more

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Cited by 11 publications
(6 citation statements)
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“…3). In line with this finding, a germ line mutation and a functionally relevant single nucleotide polymorphism for the gene of the midbody protein KLHDC8B in HL were reported recently (34,35). Furthermore, down-regulation of this gene in HeLa cells caused increased frequencies of binucleated cells owing to incomplete cytokinesis (36).…”
Section: Discussionsupporting
confidence: 49%
See 1 more Smart Citation
“…3). In line with this finding, a germ line mutation and a functionally relevant single nucleotide polymorphism for the gene of the midbody protein KLHDC8B in HL were reported recently (34,35). Furthermore, down-regulation of this gene in HeLa cells caused increased frequencies of binucleated cells owing to incomplete cytokinesis (36).…”
Section: Discussionsupporting
confidence: 49%
“…Identifying the underlying pathogenetic mechanism is essential. As mentioned above, an altered function of KLHDC8B might play a role (34)(35)(36). However, in a few cases we could not clearly discern whether cytokinesis was incomplete before re-fusion, because the connecting midbody had been disassembled.…”
Section: Discussionmentioning
confidence: 75%
“…In concordance, mutations of the midbody protein KLHDC8B in HL were recently reported. 26 , 27 Furthermore, downregulation of this gene in HeLa cells induced increased frequencies of binucleated cells. 28 Therefore, upcoming studies will address the functional role of midbody-associated proteins in HRS cells to further illuminate the molecular basis of the described re-fusion phenomenon.…”
Section: Discussionmentioning
confidence: 98%
“…Meat quality index was negatively correlated with expression of the third exon of KLHDC8B ( Fig 5H ) and this gene is associated with some cases of classical Hodgkin lymphoma which is characterized by binucleated cells. The KLHDC8B gene encodes a midbody kelch protein required during mitotic cytokinesis [ 85 , 86 ]. The third KLHDC8B exon is included in both annotated isoforms ( S4 Fig ) suggesting that additional isoforms involving this exon may be still uncovered.…”
Section: Discussionmentioning
confidence: 99%