TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.
Based on the cloned mRNA sequence of IRF6
gene (GenBank Accession Number: AF327368), the reverse transcriptase-polymerase chain reaction amplification method was used to detect mRNA expression of the IRF6
Until now, over 40 genes, including interferon regulatory 6 (IRF6
), Msh homeobox homolog 1 (MSA7), transforming growth factor alpha (TGFa), and domain containing 2 (CR1SPLD2) as well as the 8q24 and 17q22 loci have been suggested to be associated with the etiology of NSCL/P (1).
It was demonstrated that the mRNAs present in EVs are associated with the mesenchymal phenotype and with several cell functions related to the control of cell differentiation (RAX2, OR11H12, OR2M3, DDN, and GRIN3A), transcription (CLOCK, IRF6
, RAX2, TCFP2, and BCL6B), proliferation (SENP2, RBL1, CDC14B, and S100A13), cytoskeleton (DDN, MSN, and CTNNA1), metabolism (ADAM15, FUT3, ADM2, LTA4H, BDH2, and RAB5A) , and cell immune regulation (CRLF1, IL1RN, and MT1X) (Table 2).
Este es un trastorno de herencia dominante con labio y paladar hendidos que esta ligado a una mutacion del gen IRF6
en el cromosoma 1.
Genes induced by P4 and further stimulated by IFNT in uterine LE/sGE include: i) morphogens (GRP, IRF6
); ii) proteases (CTSL); iii) protease inhibitors (CST3); iv) mediators of cell migration and adhesion including SPP1, galectin 15 (LGALS15), periostin (POSTN) and insulin-like growth factor binding protein 1 (IGFBP1); v) hypoxia inducible factors (HIF1A and HI[F.sub.2[alpha]]) that stimulate angiogenesis and erythropoiesis; vi) hydroxysteroid dehydrogenase 11B (HSD11B1) that mediates corticosterone metabolism and expression of glucocorticoid recetors (GCCR); vii) synthesis of prostaglandins (PTGS2) ; and viii) IRF2 a potent repressor of transcription (Bazer et al., 2009; Bazer et al., 2010; Bazer et al., 2011a).
Association of single-nucleotide polymorphisms in the IRF6
gene with non-syndromic cleft lip with or without cleft palate in the Xinjiang Uyghur population.