A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-11-29

AUTHORS

S E Godshalk, T Paranjape, S Nallur, W Speed, E Chan, A M Molinaro, A Bacchiocchi, K Hoyt, K Tworkoski, D F Stern, M Sznol, S Ariyan, R Lazova, R Halaban, K K Kidd, J B Weidhaas, F J Slack

ABSTRACT

MicroRNAs (miRNAs) are small ∼22nt single stranded RNAs that negatively regulate protein expression by binding to partially complementary sequences in the 3′ untranslated region (3′ UTRs) of target gene messenger RNAs (mRNA). Recently, mutations have been identified in both miRNAs and target genes that disrupt regulatory relationships, contribute to oncogenesis and serve as biomarkers for cancer risk. KIT, an established oncogene with a multifaceted role in melanogenesis and melanoma pathogenesis, has recently been shown to be upregulated in some melanomas, and is also a target of the miRNA miR-221. Here, we describe a genetic variant in the 3′ UTR of the KIT oncogene that correlates with a greater than fourfold increased risk of acral melanoma. This KIT variant results in a mismatch in the seed region of a miR-221 complementary site and reporter data suggests that this mismatch can result in increased expression of the KIT oncogene. Consistent with the hypothesis that this is a functional variant, KIT mRNA and protein levels are both increased in the majority of samples harboring the KIT variant. This work identifies a novel genetic marker for increased heritable risk of melanoma. More... »

PAGES

1542-1550

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/onc.2010.536

DOI

http://dx.doi.org/10.1038/onc.2010.536

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032596296

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21119596


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23 schema:description MicroRNAs (miRNAs) are small ∼22nt single stranded RNAs that negatively regulate protein expression by binding to partially complementary sequences in the 3′ untranslated region (3′ UTRs) of target gene messenger RNAs (mRNA). Recently, mutations have been identified in both miRNAs and target genes that disrupt regulatory relationships, contribute to oncogenesis and serve as biomarkers for cancer risk. KIT, an established oncogene with a multifaceted role in melanogenesis and melanoma pathogenesis, has recently been shown to be upregulated in some melanomas, and is also a target of the miRNA miR-221. Here, we describe a genetic variant in the 3′ UTR of the KIT oncogene that correlates with a greater than fourfold increased risk of acral melanoma. This KIT variant results in a mismatch in the seed region of a miR-221 complementary site and reporter data suggests that this mismatch can result in increased expression of the KIT oncogene. Consistent with the hypothesis that this is a functional variant, KIT mRNA and protein levels are both increased in the majority of samples harboring the KIT variant. This work identifies a novel genetic marker for increased heritable risk of melanoma.
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29 schema:keywords KIT oncogene
30 KIT variants
31 RNA
32 RNAs
33 UTR
34 acral melanoma
35 biomarkers
36 cancer risk
37 complementary sequences
38 complementary sites
39 data
40 expression
41 functional variants
42 genes
43 genetic markers
44 genetic variants
45 heritable risk
46 hypothesis
47 kit
48 levels
49 majority
50 majority of samples
51 markers
52 melanogenesis
53 melanoma
54 melanoma pathogenesis
55 messenger RNAs
56 miR-221
57 miRNAs
58 microRNAs
59 mismatch
60 multifaceted role
61 mutations
62 novel genetic markers
63 oncogene
64 oncogenesis
65 pathogenesis
66 protein expression
67 protein levels
68 region
69 regulatory relationships
70 relationship
71 reporter data
72 results
73 risk
74 role
75 samples
76 seed region
77 sequence
78 sites
79 target
80 target genes
81 untranslated region
82 variant results
83 variants
84 work
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