Abstract:
:Hereditary persistence of fetal hemoglobin (HPFH) is a condition characterized by the continued expression of the fetal globin gene in adulthood. Both deletional and nondeletional forms have been described. We studied one Japanese family with two different nondeletional forms of HPFH. Analysis of polymorphic restriction sites in the beta-globin gene cluster suggested that one affecting both G gamma and A gamma globin expression in two members of the family could be associated with unknown conditions not linked to the beta-globin gene loci. Characterization by the polymerase chain reaction (PCR) of another form producing a G gamma-HPFH phenotype in two other members demonstrated a novel C-T transition at the nucleotide -114 within the distal CCAAT motif of the G gamma-globin gene. Using gel retardation assays on various nuclear extracts, we also demonstrated that this novel mutation abolishes the binding of the ubiquitous CCAAT binding factor, CP1 to the distal CCAAT motif of the gamma-globin gene but does not affect the binding of any erythroid specific factor, thereby suggesting a possible role for CP1 in the developmental regulation of fetal globin expression.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Fucharoen S,Shimizu K,Fukumaki Ydoi
10.1093/nar/18.17.5245subject
Has Abstractpub_date
1990-09-11 00:00:00pages
5245-53issue
17eissn
0305-1048issn
1362-4962journal_volume
18pub_type
杂志文章abstract::Egr-1 is a murine zinc finger encoding cDNA whose expression is modulated by a variety of ligand-receptor interactions and is often coregulated with c-fos (1). This study reports the isolation of a mouse Egr-1 genomic clone, its intron-exon structure, and 935 bp of 5' flanking sequence. The gene spans about 3.8 kb and...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/16.18.8835
更新日期:1988-09-26 00:00:00
abstract::The rat beta-casein gene is a member of a small gene family, encoding the principal milk proteins. In order to understand the mechanisms by which its stage- and tissue-specific expression are regulated, initially, a 14 kb genomic clone containing the entire 7.5 kb rat beta-casein gene with 3.5 kb of 5' and 3.0 kb of 3...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/16.3.1027
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2008-05-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/21.19.4563
更新日期:1993-09-25 00:00:00
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journal_title:Nucleic acids research
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更新日期:1997-06-15 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp814
更新日期:2010-01-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkr324
更新日期:2011-09-01 00:00:00
abstract::Large expansions of the trinucleotide repeat GAA*TTC within the first intron of the X25 (frataxin) gene cause Friedreich's ataxia, the most common inherited ataxia. Expansion leads to reduced levels of frataxin mRNA in affected individuals. Here we show that GAA*TTC tracts, in the absence of any other frataxin gene se...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/28.14.2815
更新日期:2000-07-15 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1985-02-11 00:00:00
abstract::Minichromosome maintenance (MCM) proteins facilitate replication by licensing origins and unwinding the DNA double strand. Interestingly, the number of MCM hexamers greatly exceeds the number of firing origins suggesting additional roles of MCMs. Here we show a hitherto unanticipated function of MCM2 in cilia formatio...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky945
更新日期:2019-01-10 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/27.9.2051
更新日期:1999-05-01 00:00:00
abstract::In a pilot study on SAGE on Reed-Sternberg cells we have sequenced 1055 tags representing 701 genes. Screening of the GenBank database resulted in the identification of a corresponding gene or EST for 490 of them. For 211 of the tags no homology could be detected. A major problem of the serial analysis of gene express...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/27.17.e17
更新日期:1999-09-01 00:00:00
abstract::The circadian clock comprises transcriptional feedback loops of clock genes. Cryptochromes are essential components of the negative feedback loop in mammals as they inhibit CLOCK-BMAL1-mediated transcription. We purified mouse CRY1 (mCRY1) protein complexes from Sarcoma 180 cells to determine their roles in circadian ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn1013
更新日期:2009-03-01 00:00:00
abstract::Two fragments cloned from purified human satellite III DNA do not cross-react with each other. One fragment, for which a partial sequence is reported, hybridises to satellite II as well as III and is shown to originate on chromosome 1. The other cloned fragment originates from the Y chromosome. This fragment has under...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/6.10.3177
更新日期:1979-07-25 00:00:00
abstract::Two new endonuclease activities, endonuclease B and endonuclease C, obtained from yeast nuclear preparations have been separated and partially characterized. Endonuclease B has a primary requirement for Mn2+ which cannot be replaced by Mg2+ or Ca2+, and makes single-strand scissions in double-stranded DNA. Endonculeas...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/2.7.1023
更新日期:1975-07-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkw1026
更新日期:2017-02-17 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/13.5.1575
更新日期:1985-03-11 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/30.8.1851
更新日期:2002-04-15 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2003-10-01 00:00:00
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journal_title:Nucleic acids research
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更新日期:2006-07-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1983-05-11 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1996-07-15 00:00:00
abstract::Transcription factors (TFs) regulate gene expression by binding to short DNA sequence motifs, yet their binding specificities alone cannot explain how certain TFs drive a diversity of biological processes. In order to investigate the factors that control the functions of the pleiotropic TF STAT3, we studied its genome...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks1300
更新日期:2013-02-01 00:00:00
abstract::Increasing experimental evidence shows a prominent role of histone modifications in the coordinated control of gene expression in the human malaria parasite Plasmodium falciparum. The search for the histone-mark-reading machinery that translates histone modifications into biological processes, such as formation of het...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp115
更新日期:2009-05-01 00:00:00
abstract::DNA methylation is the best-studied epigenetic modification and describes the conversion of cytosine to 5-methylcytosine. The importance of this phenomenon is that aberrant promoter hypermethylation is a common occurrence in cancer and is frequently associated with gene silencing. Various techniques are currently avai...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gnj017
更新日期:2006-02-07 00:00:00
abstract::Metagenomics is a relatively recently established but rapidly expanding field that uses high-throughput next-generation sequencing technologies to characterize the microbial communities inhabiting different ecosystems (including oceans, lakes, soil, tundra, plants and body sites). Metagenomics brings with it a number ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkt961
更新日期:2014-01-01 00:00:00
abstract::DNA molecules with covalently sealed (hairpin) ends are probable intermediates in V(D)J recombination. According to current models hairpin ends are opened to produce short single-stranded extensions that are thought to be precursors of a particular type of extra nucleotides, termed P nucleotides, which are frequently ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/23.19.3872
更新日期:1995-10-11 00:00:00
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journal_title:Nucleic acids research
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更新日期:2014-08-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2000-02-01 00:00:00
abstract::HinP1I recognizes and cleaves the palindromic tetranucleotide sequence G downward arrowCGC in DNA. We report three structures of HinP1I-DNA complexes: in the presence of Ca(2+) (pre-reactive complex), in the absence of metal ion (binary complex) and in the presence of Mg(2+) (post-reactive complex). HinP1I forms a bac...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkj484
更新日期:2006-02-09 00:00:00