Regulation of Hoxc-8 during mouse embryonic development: identification and characterization of critical elements involved in early neural tube expression

Development ◽  
1995 ◽  
Vol 121 (12) ◽  
pp. 4339-4347 ◽  
Author(s):  
C.S. Shashikant ◽  
C.J. Bieberich ◽  
H.G. Belting ◽  
J.C. Wang ◽  
M.A. Borbely ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Neural Tube ◽  
Small Region ◽  
Coding Region ◽  
Nucleotide Substitutions ◽  
Cis Acting ◽  
Critical Elements ◽  
Reporter Gene Analysis ◽  
Combinatorial Interactions

We have characterized cis-acting elements that direct the early phase of Hoxc-8 expression using reporter gene analysis in transgenic mice. By deletion we show that a 135 bp DNA fragment, located approximately 3 kb upstream of the coding region of Hoxc-8, is capable of directing posterior neural tube expression. This early neural tube (ENT) enhancer consists of four separate elements, designated A, B, C and D, whose nucleotide sequences are similar to binding sites of known transcription factors. Nucleotide substitutions suggest that element A is an essential component of the ENT enhancer. However element A by itself is incapable of directing neural tube expression. This element requires interactions at any two of the other three elements, B, C or D. Thus, the components of the ENT enhancer direct neural tube expression in an interdependent manner. We propose that Hoxc-8 is activated in the neural tube by combinatorial interactions among several proteins acting within a small region. Our transgenic analyses provide a means to identify transcription factors that regulate Hoxc-8 expression during embryogenesis.

Association of genetic variants of the prolactin gene with milk production traits in Russian Red Pied cattle

2007 ◽  
Vol 2007 ◽  
pp. 156-156 ◽  
Author(s):  
Masoud Alipanah ◽  
Lobov Kalashnikova ◽  
Genadi Rodionov
Keyword(s):  
Genetic Marker ◽  
Regulatory Function ◽  
Cdna Clones ◽  
Production Traits ◽  
Coding Region ◽  
Nucleotide Substitutions ◽  
Prolactin Gene ◽  
Pcr Rflp ◽  
Rsai Polymorphism

Prolactin plays an important regulatory function in mammary gland development, milk secretion, and expression of milk protein genes. Hence the PRL gene is a potential genetic marker of production traits in dairy cattle. The gene was mapped on chromosome 23 by Hallerman et al. (1988). It consists of 5 exons and four introns (Camper et al. 1984) encoding the 199-amino-acid mature protein (Wallis 1974). On the basis of sequence analysis of four different cDNA clones, seven possible nucleotide substitutions were described by Sasavage et al. (1982). One of them, recognized by RsaI endonuclease, has become a popular genetic marker used for genetic characterization of cattle populations by means of PCR-RFLP (Mitra et al., 1995). Two allelic variants (B and b) have been distinguished at the DNA level, based on RsaI polymorphism in the third exon of the coding region. It has been suggested that prolactin alleles correlate with milk yield (Lewin et al., 1992).

scholarly journals VOZ; Isolation and Characterization of Novel Vascular Plant Transcription Factors with a One-Zinc Finger from Arabidopsis thaliana

2004 ◽  
Vol 45 (7) ◽  
pp. 845-854 ◽  
Author(s):  
Nobutaka Mitsuda ◽  
Toru Hisabori ◽  
Kunio Takeyasu ◽  
Masa H. Sato
Keyword(s):  
Arabidopsis Thaliana ◽  
Transcription Factors ◽  
Dna Binding ◽  
Physcomitrella Patens ◽  
Cultured Cells ◽  
Vascular Plant ◽  
Amino Acid Sequence Similarity ◽  
Cis Acting ◽  
Isolation And Characterization

Abstract A 38-bp pollen-specific cis-acting region of the AVP1 gene is involved in the expression of the Arabidopsis thaliana V-PPase during pollen development. Here, we report the isolation and structural characterization of AtVOZ1 and AtVOZ2, novel transcription factors that bind to the 38-bp cis-acting region of A. thaliana V-PPase gene, AVP1. AtVOZ1 and AtVOZ2 show 53% amino acid sequence similarity. Homologs of AtVOZ1 and AtVOZ2 are found in various vascular plants as well as a moss, Physcomitrella patens. Promoter-β-glucuronidase reporter analysis shows that AtVOZ1 is specifically expressed in the phloem tissue and AtVOZ2 is strongly expressed in the root. In vivo transient effector-reporter analysis in A. thaliana suspension-cultured cells demonstrates that AtVOZ1 and AtVOZ2 function as transcriptional activators in the Arabidopsis cell. Two conserved regions termed Domain-A and Domain-B were identified from an alignment of AtVOZ proteins and their homologs of O. sativa and P. patens. AtVOZ2 binds as a dimer to the specific palindromic sequence, GCGTNx7ACGC, with Domain-B, which is comprised of a functional novel zinc coordinating motif and a conserved basic region. Domain-B is shown to function as both the DNA-binding and the dimerization domains of AtVOZ2. From highly the conservative nature among all identified VOZ proteins, we conclude that Domain-B is responsible for the DNA binding and dimerization of all VOZ-family proteins and designate it as the VOZ-domain.

scholarly journals Characterization of an E1A-CBP Interaction Defines a Novel Transcriptional Adapter Motif (TRAM) in CBP/p300

1999 ◽  
Vol 73 (5) ◽  
pp. 3574-3581 ◽  
Author(s):  
Mark J. O’Connor ◽  
Holger Zimmermann ◽  
Søren Nielsen ◽  
Hans-Ulrich Bernard ◽  
Tony Kouzarides
Keyword(s):  
Transcription Factors ◽  
Cell Fate ◽  
Transcriptional Activation ◽  
Molecular Model ◽  
P53 Protein ◽  
Small Region ◽  
Adenovirus E1a ◽  
Cellular Transcription

ABSTRACT The adenovirus E1A protein subverts cellular processes to induce mitotic activity in quiescent cells. Important targets of E1A include members of the transcriptional adapter family containing CBP/p300. Competition for CBP/p300 binding by various cellular transcription factors has been suggested as a means of integrating different signalling pathways and may also represent a potential mechanism by which E1A manipulates cell fate. Here we describe the characterization of the interaction between E1A and the C/H3 region of CBP. We define a novel conserved 12-residue transcriptional adapter motif (TRAM) within CBP/p300 that represents the binding site for both E1A and numerous cellular transcription factors. We also identify a sequence (FPESLIL) within adenovirus E1A that is required to bind the CBP TRAM. Furthermore, an E1A peptide containing the FPESLIL sequence is capable of preventing the interaction between CBP and TRAM-binding transcription factors, such as p53, E2F, and TFIIB, thus providing a molecular model for E1A action. As an in vivo demonstration of this model, we used a small region of CBP containing a functional TRAM that can bind to the p53 protein. The CBP TRAM binds p53 sequences targeted by the cellular regulator MDM2, and we demonstrate that an MDM2-p53 interaction can be disrupted by the CBP TRAM, leading to stabilization of cellular p53 levels and the activation of p53-dependent transcription. Transcriptional activation of p53 by the CBP TRAM is abolished by wild-type E1A but not by a CBP-binding-deficient E1A mutant.

scholarly journals Sequence Characterization of theMC1RGene in Yak (Poephagus grunniens) Breeds with Different Coat Colors

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Shi-Yi Chen ◽  
Yi Huang ◽  
Qing Zhu ◽  
Luca Fontanesi ◽  
Yong-Gang Yao ◽  
...  
Keyword(s):  
Coat Color ◽  
Extracellular Loop ◽  
Wild Type ◽  
Coding Region ◽  
Functional Effect ◽  
Nucleotide Substitutions ◽  
Melanocortin 1 Receptor ◽  
Sequence Characterization ◽  
Potential Association

Melanocortin 1 receptor (MC1R) gene plays a key role in determining coat color in several species, including the cattle. However, up to now there is no report regarding theMC1Rgene and the potential association of its mutations with coat colors in yak (Poephagus grunniens). In this study, we sequenced the encoding region of theMC1Rgene in three yak breeds with completely white (Tianzhu breed) or black coat color (Jiulong and Maiwa breeds). The predicted coding region of the yakMC1Rgene resulted of 954 bp, the same to that of the wild-type cattle sequence, with >99% identity. None of the mutation events reported in cattle was found. Comparing the yak obtained sequences, five nucleotide substitutions were detected, which defined three haplotypes (EY1,EY2, andEY3). Of the five mutations, two, characterizing theEY1haplotype, were nonsynonymous substitutions (c.340C>A and c.871G>A) causing amino acid changes located in the first extracellular loop (p.Q114K) and in the seventh transmembrane region (p.A291T).In silicoprediction might indicate a functional effect of the latter substitution. However, all three haplotypes were present in the three yak breeds with relatively consistent frequency distribution, despite of their distinguished coat colors, which suggested that there was no across-breed association between haplotypes or genotypes and black/white phenotypes, at least in the investigated breeds. Other genes may be involved in affecting coat color in the analyzed yaks.

scholarly journals Characterization of cis-acting sequences and decay intermediates involved in nonsense-mediated mRNA turnover.

1995 ◽  
Vol 15 (2) ◽  
pp. 809-823 ◽  
Author(s):  
K W Hagan ◽  
M J Ruiz-Echevarria ◽  
Y Quan ◽  
S W Peltz
Keyword(s):  
Mrna Decay ◽  
General Characteristic ◽  
Mrna Turnover ◽  
Coding Region ◽  
Yeast Saccharomyces Cerevisiae ◽  
Nonsense Mutations ◽  
Cis Acting ◽  
Nonsense Mediated Mrna Decay ◽  
Translational Termination

Several lines of evidence indicate that the processes of mRNA turnover and translation are intimately linked and that understanding this relationship is critical to elucidating the mechanism of mRNA decay. One clear example of this relationship is the observation that nonsense mutations can accelerate the decay of mRNAs in a process that we term nonsense-mediated mRNA decay. The experiments described here demonstrate that in the yeast Saccharomyces cerevisiae premature translational termination within the initial two-thirds of the PGK1 coding region accelerates decay of that transcript regardless of which of the stop codons is used. Nonsense mutations within the last quarter of the coding region have no effect on PGK1 mRNA decay. The sequences required for nonsense-mediated mRNA decay include a termination codon and specific sequences 3' to the nonsense mutation. Translation of two-thirds of the PGK1 coding region inactivates the nonsense-mediated mRNA decay pathway. This observation explains why carboxyl-terminal nonsense mutations are resistant to accelerated decay. Characterization of the decay of nonsense-containing HIS4 transcripts yielded results mirroring those described above, suggesting that the sequence requirements described for the PGK1 transcript are likely to be a general characteristic of this decay pathway. In addition, an analysis of the decay intermediates of nonsense-containing mRNAs indicates that nonsense-mediated mRNA decay flows through a pathway similar to that described for a class of wild-type transcripts. The initial cleavage event occurs near the 5' terminus of the nonsense-containing transcript and is followed by 5'-->3' exonucleolytic digestion. A model for nonsense-mediated mRNA decay based on these results is discussed.

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

Characterization of pituitary adenomas by immunohistochemistry of pituitary-specific transcription factors and their correlation with hormonal subtypes

2020 ◽  
Author(s):  
Araceli García-Martínez ◽  
Sandra Silva-Ortega ◽  
Beatriz López-Muñoz ◽  
Óscar Moreno-Pérez ◽  
Irene Monjas ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Pituitary Adenomas

scholarly journals Identification and Characterization of Abiotic Stress Responsive CBL-CIPK Family Genes in Medicago

2021 ◽  
Vol 22 (9) ◽  
pp. 4634
Author(s):  
Wenxuan Du ◽  
Junfeng Yang ◽  
Lin Ma ◽  
Qian Su ◽  
Yongzhen Pang
Keyword(s):  
Abiotic Stress ◽  
Abiotic Stresses ◽  
Expression Patterns ◽  
Interacting Protein ◽  
Forage Crop ◽  
Cis Acting ◽  
Protein Motifs ◽  
Plant Signal Transduction ◽  
Identification And Characterization

The calcineurin B-like protein (CBL) and CBL-interacting protein kinase (CIPK) play important roles in plant signal transduction and response to abiotic stress. Plants of Medicago genus contain many important forages, and their growth is often affected by a variety of abiotic stresses. However, studies on the CBL and CIPK family member and their function are rare in Medicago. In this study, a total of 23 CBL and 58 CIPK genes were identified from the genome of Medicago sativa as an important forage crop, and Medicaog truncatula as the model plant. Phylogenetic analysis suggested that these CBL and CIPK genes could be classified into five and seven groups, respectively. Moreover, these genes/proteins showed diverse exon-intron organizations, architectures of conserved protein motifs. Many stress-related cis-acting elements were found in their promoter region. In addition, transcriptional analyses showed that these CBL and CIPK genes exhibited distinct expression patterns in various tissues, and in response to drought, salt, and abscisic acid treatments. In particular, the expression levels of MtCIPK2 (MsCIPK3), MtCIPK17 (MsCIPK11), and MtCIPK18 (MsCIPK12) were significantly increased under PEG, NaCl, and ABA treatments. Collectively, our study suggested that CBL and CIPK genes play crucial roles in response to various abiotic stresses in Medicago.

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