A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer

Schmid, Mathias; Sen, Malini; Rosenbach, Michael; Carrera, Carlos J.; Friedman, Henry S.; Carson, Dennis A.

doi:10.1038/sj.onc.1203942

Cited by 50 publications

(42 citation statements)

References 25 publications

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“…It encodes an enzyme responsible for recycling 5Ј-methylthioadenosine (MTA) to S-adenosylmethionine (23 ). However, although variants may influence plasma levels of homocysteine and folate, which were measured in NPHS-II (24 ), there were no significant differences in levels of these factors by either SNP genotype (see Supplementary Table 1 in the online Data Supplement).…”

Section: Discussionmentioning

confidence: 86%

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

et al. 2008

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Section: Discussionmentioning

confidence: 86%

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

et al. 2008

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“…Therefore, we exploited the close linkage between INK4a and the evolutionarily conserved MTAP. In humans, MTAP is Ϸ100-150 kb distal to INK4a in the opposite transcriptional orientation (28)(29)(30), and the same organization is preserved in other species (Fig. 1A) including Fugu, where there is no tandem duplication of INK4a͞b (8).…”

Section: Isolation and Characterization Of A Bac Containing The Chickenmentioning

confidence: 90%

Absence of p16 ^INK4a and truncation of ARF tumor suppressors in chickens

Kim

Mitchell

Fujii

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

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The INK4b-ARF-INK4a locus on human chromosome 9p21 (Human Genome Organization designation CDKN2B-CDKN2A), and the corresponding locus on mouse chromosome 4, encodes three distinct products: two members of the INK4 cyclin-dependent kinase inhibitor family and a completely unrelated protein, ARF, whose carboxyl-terminal half is specified by the second exon of INK4a but in an alternative reading frame. As INK4 proteins block the phosphorylation of the retinoblastoma gene product and ARF protects p53 from degradation, the locus plays a key role in tumor suppression and the control of cell proliferation. To gain further insights into the relative importance of INK4a and ARF in different settings, we have isolated and characterized the equivalent locus in chickens. Surprisingly, although we identified orthologues of INK4b and ARF, chickens do not encode an equivalent of INK4a. Moreover, the reading frame for chicken ARF does not extend into exon 2, because splicing occurs in a different register to that used in mammals. The resultant 60-aa product nevertheless shares functional attributes with its mammalian counterparts. As well as indicating that the locus has been subject to dynamic evolutionary pressures, these unexpected findings suggest that in chickens, the tumor-suppressor functions of INK4a have been compensated for by other genes.

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“…One glioblastoma showed an amplified segment immediately distal of MDM2, involving the GAS41 (14) and FRS2 (15) genes, and the hypothetical gene MGC13168, the latter of which was amplified in an additional glioblastoma. The CDKN2A locus showed codeletion of the candidate tumor suppressor gene MTAP (16). Whereas the MYCN amplicon in one glioblastoma included the MYCNOS (17), NAG (18), DDX1 (19), and NSE1 (20) genes, the MYC amplicon involved the NSE2 gene (ref.…”

Section: Resultsmentioning

confidence: 99%

High-Resolution Genome-Wide Mapping of Genetic Alterations in Human Glial Brain Tumors

et al. 2005

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High-resolution genome-wide mapping of exact boundaries of chromosomal alterations should facilitate the localization and identification of genes involved in gliomagenesis and may characterize genetic subgroups of glial brain tumors. We have done such mapping using cDNA microarray-based comparative genomic hybridization technology to profile copy number alterations across 42,000 mapped human cDNA clones, in a series of 54 gliomas of varying histogenesis and tumor grade. This gene-by-gene approach permitted the precise sizing of critical amplicons and deletions and the detection of multiple new genetic aberrations. It has also revealed recurrent patterns of occurrence of distinct chromosomal aberrations as well as their interrelationships and showed that gliomas can be clustered into distinct genetic subgroups. A subset of detected alterations was shown predominantly associated with either astrocytic or oligodendrocytic tumor phenotype. Finally, five novel minimally deleted regions were identified in a subset of tumors, containing putative candidate tumor suppressor genes (TOPORS, FANCG, RAD51, TP53BP1, and BIK) that could have a role in gliomagenesis. (Cancer Res 2005; 65(10): 4088-96)

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A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer

Cited by 50 publications

References 25 publications

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

Absence of p16 ^INK4a and truncation of ARF tumor suppressors in chickens

High-Resolution Genome-Wide Mapping of Genetic Alterations in Human Glial Brain Tumors

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A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer

Cited by 50 publications

References 25 publications

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

Absence of p16 INK4a and truncation of ARF tumor suppressors in chickens

High-Resolution Genome-Wide Mapping of Genetic Alterations in Human Glial Brain Tumors

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Absence of p16 ^INK4a and truncation of ARF tumor suppressors in chickens