Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia

Buhl, Anne Mette; Jurlander, Jesper; Jørgensen, Flemming Steen; Ottesen, Anne Marie; Cowland, Jack B.; Gjerdrum, Lise Mette Rahbek; Hansen, Brian V.; Leffers, Henrik

doi:10.1182/blood-2005-07-2615

Cited by 58 publications

(44 citation statements)

References 38 publications

(40 reference statements)

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“…The authors also noted that the coding capacity is not conserved in mouse and chimp (Buhl et al 2006). The role of this gene in chronic lymphocytic leukemia is not clear, but it has been suggested as a therapeutic target (Buhl et al 2006). The sequenced peptide from this locus was identified in plasma pooled from dozens of healthy individuals (according to the database notes).…”

Section: Human Population Polymorphismmentioning

confidence: 99%

“…This close proximity to other genes probably allows the novel genes to exploit existing expression machinery, though potential promoter regions are not well annotated at present. The region around the CLLU1 gene on chromosome 12 has a high number of ESTs from B cells, indicating that this region is particularly accessible to transcription (Buhl et al 2006) and this property is likely to have facilitated the expression of the new ORF. Furthermore, the ENCODE project results showed that a high fraction of the genome is likely to be transcribed (The ENCODE Project Consortium 2007), so acquisition of transcription may not be a significant hurdle in the evolution of new genes.…”

Section: Org Downloaded Frommentioning

confidence: 99%

Section: Human Population Polymorphismmentioning

confidence: 99%

“…It was originally recognized as a highly expressed gene in chronic lymphocytic leukemia (CLL) (Buhl et al 2006). The authors also noted that the coding capacity is not conserved in mouse and chimp (Buhl et al 2006). The role of this gene in chronic lymphocytic leukemia is not clear, but it has been suggested as a therapeutic target (Buhl et al 2006).…”

Section: Human Population Polymorphismmentioning

confidence: 99%

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Recent de novo origin of human protein-coding genes

Knowles¹,

McLysaght²

2009

Genome Res.

271

299

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The origin of new genes is extremely important to evolutionary innovation. Most new genes arise from existing genes through duplication or recombination. The origin of new genes from noncoding DNA is extremely rare, and very few eukaryotic examples are known. We present evidence for the de novo origin of at least three human protein-coding genes since the divergence with chimp. Each of these genes has no protein-coding homologs in any other genome, but is supported by evidence from expression and, importantly, proteomics data. The absence of these genes in chimp and macaque cannot be explained by sequencing gaps or annotation error. High-quality sequence data indicate that these loci are noncoding DNA in other primates. Furthermore, chimp, gorilla, gibbon, and macaque share the same disabling sequence difference, supporting the inference that the ancestral sequence was noncoding over the alternative possibility of parallel gene inactivation in multiple primate lineages. The genes are not well characterized, but interestingly, one of them was first identified as an upregulated gene in chronic lymphocytic leukemia. This is the first evidence for entirely novel human-specific protein-coding genes originating from ancestrally noncoding sequences. We estimate that 0.075% of human genes may have originated through this mechanism leading to a total expectation of 18 such cases in a genome of 24,000 protein-coding genes.

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Section: Human Population Polymorphismmentioning

confidence: 99%

Section: Org Downloaded Frommentioning

confidence: 99%

Section: Human Population Polymorphismmentioning

confidence: 99%

Section: Human Population Polymorphismmentioning

confidence: 99%

See 2 more Smart Citations

Recent de novo origin of human protein-coding genes

Knowles¹,

McLysaght²

2009

Genome Res.

271

299

View full text Add to dashboard Cite

show abstract

“…The CLL upregulated gene 1 (CLLU1) located at 12q22 was overexpressed exclusively in CLL and its expression was shown to have a strong prognostic significance in patients younger than 70 years, namely higher expression was associated with shorter overall survival (Josefsson et al, 2007). However overexpression of CLLU1 occurs irrespectively of trisomy 12 or other large chromosomal rearrangements (Buhl et al, 2006).…”

Section: Trisomy 12mentioning

confidence: 99%