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Genetic variants of mucins: unexplored conundrum
#MMPMID27838635
Kumar S
; Cruz E
; Joshi S
; Patel A
; Jahan R
; Batra SK
; Jain M
Carcinogenesis
2017[Jul]; 38
(7
): 671-679
PMID27838635
show ga
Alternative gene splicing, occurring ubiquitously in multicellular organisms can
produce several protein isoforms with putatively different functions. The
enormously extended genomic structure of mucin genes characterized by the
presence of multiple exons encoding various domains may result in functionally
diverse repertoire of mucin proteins due to alternative splicing. Splice variants
(Svs) and mutations in mucin genes have been observed in various cancers and
shown to participate in cancer progression and metastasis. Although several mucin
Svs have been identified, their potential functions remain largely unexplored
with the exception of the Svs of MUC1 and MUC4. A few studies have examined the
expression of MUC1 and MUC4 Svs in cancer and indicated their potential
involvement in promoting cancer cell proliferation, invasion, migration,
angiogenesis and inflammation. Herein we review the current understanding of
mucin Svs in cancer and inflammation and discuss the potential impact of splicing
in generating a functionally diverse repertoire of mucin gene products. We also
performed mutational analysis of mucin genes across five major cancer types in
International Cancer Genome Consortium database and found unequal mutational
rates across the panel of cancer-associated mucins. Although the functional role
of mucins in the pathobiology of various malignancies and their utility as
diagnostic and therapeutic targets remain undisputed, these attributes need to be
reevaluated in light of the potentially unique functions of disease-specific
genetic variants of mucins. Thus, the expressional and functional
characterization of the genetic variants of mucins may provide avenues to fully
exploit their potential as novel biomarkers and therapeutic targets.
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