Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor Nuclear Factor One

Gründer, Albert; Qian, Feng; Ebel, Thorsten T.; Mincheva, Antoaneta; Lichter, Peter; Kruse, Ulrich; Sippel, Albrecht E.

doi:10.1016/s0378-1119(02)01204-0

Cited by 26 publications

(19 citation statements)

References 26 publications

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“…The functional importance of the multiple NFIX splice variants remains largely unknown, although they presumably fulfill very specific biological functions (7). Mutations on the different isoforms encoded by NFIX might conceivably have variable phenotypic consequences.…”

Section: Articlesmentioning

confidence: 99%

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

et al. 2015

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Section: Articlesmentioning

confidence: 99%

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

et al. 2015

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“…In vertebrates, the Nfi gene family consists of four closely related genes, named Nfia, Nfib, Nfic, and Nfix (37,58). They encode proteins with a conserved N-terminal DNA-binding and dimerization domain (26) and a C-terminal transactivation/repression domain which exhibits a high variability due to extensive alternative splicing (29,38,48). NFI family members act as homo-and heterodimers (39) and bind with high affinity to the palindromic consensus sequence 5Ј-PyTGGCA-N 3 -TGCCAPu-3Ј (6,20,51).…”

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confidence: 99%

Nuclear Factor I X Deficiency Causes Brain Malformation and Severe Skeletal Defects

Driller

Pagenstecher

Uhl³

et al. 2007

Molecular and Cellular Biology

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143

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The transcription factor family of nuclear factor I (NFI) proteins is encoded by four closely related genes: Nfia, Nfib, Nfic, and Nfix. A potential role for NFI proteins in regulating developmental processes has been implicated by their specific expression pattern during embryonic development and by analysis of NFI-deficient mice. It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects. Here we report the knockout analysis of the fourth and last member of this gene family, Nfix. Loss of NFIX is postnatally lethal and leads to hydrocephalus and to a partial agenesis of the corpus callosum. Furthermore, NFIX-deficient mice develop a deformation of the spine, which is due to a delay in ossification of vertebral bodies and a progressive degeneration of intervertebral disks. Impaired endochondral ossification and decreased mineralization were also observed in femoral sections of Nfix ؊/؊ mice. Consistent with the defects in bone ossification we could show that the expression level of tetranectin, a plasminogenbinding protein involved in mineralization, is specifically downregulated in bones of NFIX-deficient mice.

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“…In mammals, the NFI transcription factor family is composed of isoforms that are differentially expressed during development (Chaudhry et al, 1997). Isoforms of the NFI transcription factor family are expressed from four genes with multiple splice variants from each gene possessing differing abilities to activate or repress transcription (Grü nder et al, 2003). Further results from immunoblotting (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Expression constructs encoding NFIA1.1, NFIB2, NFIC2, and NFIX2 in the pCH expression vector were kindly provided by Dr. Richard Gronostajski (State University of New York at Buffalo, Buffalo, NY) (Chaudhry et al, 1997;Grü nder et al, 2003). The expression vector for NFIX1, which differs from NFIX2 by the inclusion of exon 7, was prepared by PCR amplification using NFIX1 for and NFIX1 rev (Table 1) from pooled human liver cDNA.…”

Section: Methodsmentioning

confidence: 99%

Regulation of the CYP3A4 and CYP3A7 Promoters by Members of the Nuclear Factor I Transcription Factor Family

Riffel

Schuenemann²,

Vyhlidal

2009

Mol Pharmacol

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Despite the established interindividual variability and ontogeny of the CYP3A enzymes, the most abundant phase I drug-metabolizing enzymes in human liver and intestine, the mechanisms that regulate basal expression remain poorly understood. Electrophoretic mobility shift assays using nuclear proteins extracted from human prenatal and postnatal liver samples identified multiple, developmentally distinct nuclear factor I (NFI)-containing protein complexes from human liver bound to sequences from the CYP3A4 (Ϫ243/ Ϫ220) and CYP3A7 (Ϫ242/Ϫ219) proximal promoters. In addition, a hepatocyte nuclear factor (HNF) 3␥-containing complex from prenatal liver interacted with CYP3A7Ϫ242/ Ϫ219 but not CYP3A4Ϫ243/Ϫ220. Cotransfection of HepG2 cells with a CYP3A4 proximal promoter construct and expression vectors for the NFI isoforms NFIA1.1, NFIB2, NFIC1, NFIC2, and NFIX1 enhanced the expression of luciferase activity. In contrast, cotransfection of NFIB2, NFIC1, NFIC2, NFIX1, and NFIX2 reduced the expression of luciferase under the control of the CYP3A7 gene promoter. Mutagenesis of the NFI/HNF3␥ binding sites in the CYP3A7 and CYP3A4 proximal promoters suggests that regulation of basal promoter activity by members of the NFI transcription factor family occur via multiple mechanisms. These results demonstrate that members of the NFI transcription factor family regulate CYP3A4 and CYP3A7 basal expression in an isoform-and promoter-specific manner.

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Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor Nuclear Factor One

Cited by 26 publications

References 26 publications

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Nuclear Factor I X Deficiency Causes Brain Malformation and Severe Skeletal Defects

Regulation of the CYP3A4 and CYP3A7 Promoters by Members of the Nuclear Factor I Transcription Factor Family

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