Genetic variants of mucins

Unexplored conundrum

Sushil Kumar, Eric Cruz, Suhasini Joshi, Asish Patel, Rahat Jahan, Surinder KBatra, Maneesh Jain

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article numberbgw120
Pages (from-to)671-679
Number of pages9
JournalCarcinogenesis
Volume38
Issue number7
DOIs
StatePublished - Jul 1 2017

Fingerprint

Mucins
Neoplasms
Genes
Alternative Splicing
Inflammation
Inborn Genetic Diseases
Exons
Protein Isoforms
Biomarkers
Cell Proliferation
Genome
Databases
Neoplasm Metastasis
Mutation

ASJC Scopus subject areas

  • Cancer Research

Cite this

Kumar, S., Cruz, E., Joshi, S., Patel, A., Jahan, R., KBatra, S., & Jain, M. (2017). Genetic variants of mucins: Unexplored conundrum. Carcinogenesis, 38(7), 671-679. [bgw120]. https://doi.org/10.1093/carcin/bgw120

Genetic variants of mucins : Unexplored conundrum. / Kumar, Sushil; Cruz, Eric; Joshi, Suhasini; Patel, Asish; Jahan, Rahat; KBatra, Surinder; Jain, Maneesh.

In: Carcinogenesis, Vol. 38, No. 7, bgw120, 01.07.2017, p. 671-679.

Research output: Contribution to journalReview article

Kumar, S, Cruz, E, Joshi, S, Patel, A, Jahan, R, KBatra, S & Jain, M 2017, 'Genetic variants of mucins: Unexplored conundrum', Carcinogenesis, vol. 38, no. 7, bgw120, pp. 671-679. https://doi.org/10.1093/carcin/bgw120
Kumar S, Cruz E, Joshi S, Patel A, Jahan R, KBatra S et al. Genetic variants of mucins: Unexplored conundrum. Carcinogenesis. 2017 Jul 1;38(7):671-679. bgw120. https://doi.org/10.1093/carcin/bgw120
Kumar, Sushil ; Cruz, Eric ; Joshi, Suhasini ; Patel, Asish ; Jahan, Rahat ; KBatra, Surinder ; Jain, Maneesh. / Genetic variants of mucins : Unexplored conundrum. In: Carcinogenesis. 2017 ; Vol. 38, No. 7. pp. 671-679.
@article{9cec22b969aa414ea297f1bfdeb4fb42,
title = "Genetic variants of mucins: Unexplored conundrum",
abstract = "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.",
author = "Sushil Kumar and Eric Cruz and Suhasini Joshi and Asish Patel and Rahat Jahan and Surinder KBatra and Maneesh Jain",
year = "2017",
month = "7",
day = "1",
doi = "10.1093/carcin/bgw120",
language = "English (US)",
volume = "38",
pages = "671--679",
journal = "Carcinogenesis",
issn = "0143-3334",
publisher = "Oxford University Press",
number = "7",

}

TY - JOUR

T1 - Genetic variants of mucins

T2 - Unexplored conundrum

AU - Kumar, Sushil

AU - Cruz, Eric

AU - Joshi, Suhasini

AU - Patel, Asish

AU - Jahan, Rahat

AU - KBatra, Surinder

AU - Jain, Maneesh

PY - 2017/7/1

Y1 - 2017/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85027163601&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85027163601&partnerID=8YFLogxK

U2 - 10.1093/carcin/bgw120

DO - 10.1093/carcin/bgw120

M3 - Review article

VL - 38

SP - 671

EP - 679

JO - Carcinogenesis

JF - Carcinogenesis

SN - 0143-3334

IS - 7

M1 - bgw120

ER -