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C18orf1is a novel brain-expressed transcript, mapping to 18p11.2. Upon further characterization, we found multiple and differentially expressed transcriptional variants.C18orf1α1, an 8.5-kb transcript, was predicted to code for a 306-amino-acid protein and a 7.1-kb 3′-untranslated region (UTR). This variant was encoded by at least six exons. Alternative transcripts included α2, identical to α1 but...
Clinical interest in the genes on human chromosome 21, especially with respect to Down syndrome (DS), has provided a strong impetus for the creation of a transcript map of this chromosome. In an effort to identify new human genes on the basis of cDNA analysis, we found several cDNA clones that corresponded to chromosome 21-specific transcripts. One of these, ha2303, showed strong similarity to the...
Genomic clones encoding the human APOBEC1 gene and its 5′ flanking region have been isolated and characterized. The human gene contains five coding exons. The introns dividing these exons correspond exactly to those found in the mouse gene. The translation initiation site, ATG, is located in exon 2 at the same site as in the mouse. The 5′ flanking sequence contains twoAlurepeats of the Sq family....
Despite antibiotic therapy and vaccination programs, microbial diseases continue to be the leading cause of morbidity and mortality worldwide. The genetic basis of the host response to infection is complex, and its understanding has been facilitated through the study of mouse models of human infectious diseases. Genetic variation in resistance of mice to infection withSalmonella typhimuriumhas been...
Two homologous genes, EXT1 and EXT2, responsible for the development of benign multiple cartilagenous bone tumors (exostoses) on the long bones, have been identified in the past 2 years. Several arguments have been provided to support the hypothesis that these genes have tumor suppressor activity and that loss of function of these genes may contribute to the development of bone tumors. The recent...
Alveolar rhabdomyosarcomas are associated with unique chromosomal translocations t(2;13) and t(1;13), which arise from fusion of the genes for the paired box proteins PAX3 and PAX7, respectively, to the FKHR (forkhead in rhabdomyosarcoma) gene on chromosome 13q14. Here we report the identification and characterization of three novel human forkhead genes with similarity to FKHR. The three genes (HGMW-approved...
We have isolated a new human RING-finger gene (RNF4) that encodes a 190-amino-acid protein. RNF4, in addition to the carboxyl-terminally located RING-finger motif, contains two putative nuclear localization signals and stretches of acidic amino acids that are similar to the activation domains of some transcription factors. RNF4 was expressed at low levels in all human tissues examined, with the notable...
Human Rh (rhesus) antigens are expressed in the red cell membrane as a multi-subunit complex, the central core of which is presumably composed of a tetramer made of two Rh and two Rh50 protein subunits. The interaction between Rh and Rh50 polypeptides is thought to be crucial to the correct assembly and transport of the complex to the cell surface. Here, we show that the humanRH50Agene (RHAG) is composed...
Diadenosine 5′,5‴-P 1 ,P 4 -tetraphosphate (Ap 4 A) hydrolase is the enzyme responsible for maintaining the intracellular level of the dinucleotide Ap 4 A, the function of which has yet to be established. The APAH1 gene encoding this Ap 4 A hydrolase has been mapped by fluorescencein situhybridization and PCR to human chromosome 9p13. Radiation hybrid panel...
We propose a new experimental protocol,ExonPCR,which is able to identify exon boundaries in a cDNA even in the absence of any genomic clones.ExonPCRcan bypass the isolation, characterization, and DNA sequencing of subclones of genomic DNA to determine exon boundaries: a major effort in the process of positional cloning. Given a cDNA sequence,ExonPCRuses a series of “adaptive” steps to analyze the...
Scaffold-associated regions (SARs) function at the level of modeling or shaping the chromatin of DNA into loop domains. We have mapped 36 SARs in the human type I interferon (IFN) gene complex on chromosome 9, band p21-22, to examine the overall structure of this gene complex. A total of 29 strong SARs and 7 weak SARs were mapped to the flanking regions of the different interferon genes. Twenty-two...
We have constructed an expression map of chromosome 14q24.3 between markers D14S42 and D14S63. cDNA selection with YACs from 14q24.3 was used to generate expressed sequence tags (ESTs). The localization of ESTs was confirmed on a YAC contig. PCR products of ESTs were used as probes to screen cDNA libraries leading to the isolation of transcripts for known and unknown genes. In total, the expression...
We report the cloning of the human homologue of the rat metalloprotease N-arginine dibasic convertase (NRD convertase). This endopeptidase is responsible for the processing, at the Arg-Lys dibasic site on the N-terminal side of the arginine residue, of propeptides and proproteins. Comparisons of the human and rat full-length cDNAs show similarity and identity of 94 and 91%, respectively. In humans...
Platelet-activating factor acetylhydrolases (PAF-AHs) play an important role in the metabolism of PAF, a potent phospholipid mediator affecting various physiological processes. The heterotrimeric form of intracellular PAF-AH consists of two catalytic subunits (PAF-AH Ibβ and PAF-AH Ibγ) and a potential regulatory subunit (PAF-AH Ibα). Hemizygous deletion of the gene encoding the α subunit has been...
A region of the C-terminus of adenovirus type 2/5 E1A protein has been associated with negative modulation of tumorigenicity, as well as the extent of oncogenic transformation. In contrast with the N-terminus of the E1A protein, which has been extensively characterized and shown to associate with a number of cellular proteins, the function of the C-terminus is poorly understood. To date, a single...
The order of and physical distance between 180 polymorphic markers, many from the Généthon and CHLC genetic maps, have been determined through inclusion of probe-positive cosmids in the metric physical map of human chromosome 19. The markers incorporated into the physical map include 38 genetic markers with heterozygosities of >0.8 and ∼120 markers with heterozygosities of >0.60. The average...
We report here the molecular cloning, tissue distribution, and chromosomal localization of novel genes encoding G-protein-coupled receptors (GPCRs). A search of a mouse database of expressed sequence tags revealed an EST partially encoding a GPCR, which was used to screen a mouse genomic library to obtain the translational open reading frame (ORF). The resultant clone, GPR27, contained an intronless...
The products of at least 11 maternal effect genes have been shown to be essential for proper germ plasm assembly inDrosophila melanogasterembryos. Here we report the isolation and characterization of the mammalian counterpart for one of these genes (namedMAGOHformago nashi homologue). The predicted amino acid sequence of mouse and human MAGOH are completely identical; MAGOH homologues from the nematodeCaenorhabditis...
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