MMP gene polymorphisms as contributors for cleft lip/palate: Association with MMP3 but not MMP1

Letra, Ariadne; Silva, Rodrigo A.; Menezes, Renato; Astolfi, Claudia M.; Shinohara, André Luís; Souza, Ana Paula de; Granjeiro, José Mauro

doi:10.1016/j.archoralbio.2007.04.005

Cited by 34 publications

(42 citation statements)

References 28 publications

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“…Four TIMPs (TIMP1, TIMP2, TIMP3, and TIMP4) have been identified to inhibit active forms of MMPs [30] and in our study, 2 TIMPs (TFPI2 and TIM3) were found to be significantly upregulated by SATB2 while MMP3 was significantly downregulated, probably by these 2 TIMPs. The MMP3 gene was shown to be down-regulated in individuals with cleft lip and palate when compared to controls [31], consistent with the correlation between SATB2 mutation and cleft lip and palate [18]. …”

Section: Discussionmentioning

confidence: 67%

SATB2 expression increased anchorage-independent growth and cell migration in human bronchial epithelial cells

Jordan

Kluz

et al. 2016

Toxicology and Applied Pharmacology

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The special AT-rich sequence-binding protein 2 (SATB2) is a protein that binds to the nuclear matrix attachment region of the cell and regulates gene expression by altering chromatin structure. In our previous study, we reported that SATB2 gene expression was induced in human bronchial epithelial BEAS-2B cells transformed by arsenic, chromium, nickel and vanadium. In this study , we show that ectopic expression of SATB2 in the normal human bronchial epithelial cell-line BEAS-2B increased anchorage-independent growth and cell migration, meanwhile, shRNA – mediated knockdown of SATB2 significantly decreased anchorage-independent growth in Ni transformed BEAS-2B cells. RNA sequencing analyses of SATB2 regulated genes revealed the enrichment of those involved in cytoskeleton, cell adhesion and cell-movement pathways. Our evidence supports the hypothesis that SATB2 plays an important role in BEAS-2B cell transformation.

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Section: Discussionmentioning

confidence: 67%

SATB2 expression increased anchorage-independent growth and cell migration in human bronchial epithelial cells

Jordan

Kluz

et al. 2016

Toxicology and Applied Pharmacology

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“…In this study, we examined the function of MMP3 (rs522616 and rs3025058) and TIMP2 (rs8179096) promoter variants, previously associated with NSCL/P (Letra et al, 2007(Letra et al, , 2012a. Our findings indicate that each of these variants has a different regulatory effect on gene transcription depending on the allele present.…”

Section: Discussionmentioning

confidence: 99%

Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate

et al. 2014

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Evidence from biological and human studies strongly supports a role for MMP and TIMP genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NSCL/P). We previously showed the association of promoter polymorphisms in MMP3 (rs3025058 and rs522616) and TIMP2 (rs8179096) with NSCL/P. In this study, we examined the functional significance of these polymorphisms. A specific DNA-protein complex for MMP3 rs522616 A was detected, and this allele by itself showed greater promoter activity than the G allele. However, the effect of rs522616 was ultimately regulated by the rs3025058 allele on the background. For TIMP2 rs8179096, the T allele showed a 2.5-fold increase in promoter activity when compared with allele C, whereas both C and T alleles were found to bind to nuclear factor kappa B. Our results provide new evidence that promoter polymorphisms in MMP3 and TIMP2 are functional and may affect gene transcription with possible effects on craniofacial development leading to NSCL/P.

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“…41 In addition, previous studies have demonstrated that polymorphisms in MMP3 are associated with all types of cleft. 25,26 MMP3 also has been implicated in various types of cancer. 42,43 The polymorphism rs2761887 in BMP4 presented an association trend with the most severe case of oral cleft: cleft lip with palate.…”

Section: Discussionmentioning

confidence: 98%

“…23,24 In addition, genetic variations in MMP3 have been associated with oral clefts. 25,26 Furthermore, genetic studies of oral cleft have shown the association of genes that are also involved in cancer, raising a hypothesis that some genes might be involved in embryonic development and later in cancer development. 27,28 Therefore, in this study we examined whether families of oral cleft subjects have an increased risk for cancer.…”

Section: Introductionmentioning

confidence: 98%

DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer

Sabóia¹,

Reis²,

Martins³

et al. 2015

Archives of Oral Biology

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MMP gene polymorphisms as contributors for cleft lip/palate: Association with MMP3 but not MMP1

Cited by 34 publications

References 28 publications

SATB2 expression increased anchorage-independent growth and cell migration in human bronchial epithelial cells

SATB2 expression increased anchorage-independent growth and cell migration in human bronchial epithelial cells

Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate

DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer

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