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The current genome sequencing projects reveal megabases of unknown genomic sequences. About 1% of these sequences can be expected to be of retroviral origin. These are often severely deleted or mutated. Therefore, identification of the retroviral origin of these sequences can be very difficult due to the absence of convincing overall sequence similarity. There are also many copies of solo-LTRs (long...
The stargazer mouse mutation causes absence seizures that are more prolonged and frequent than any other petit mal mouse model. Stargazer mice also have an ataxic gait and vestibular problems, including a distinctive head-tossing motion. From the genotyping of a large intersubspecific cross, a panel of 53 recombinant DNAs betweenD15Mit29andD15Mit2has been assembled, and a fine genetic map of the stargazer...
The mammalian homeobox genes encode a family of transcription factors that are important in a wide range of cellular processes, including hematopoiesis. Aberrant expression of some homeobox genes is known to be oncogenic. We report the cloning and initial characterization of a human homeobox gene, MEIS1, identified in a survey of homeobox genes expressed in the human fetal liver. The complete cDNA...
Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USH1a locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two nonchimeric YACs, 878g10 and 844g2, and a single BAC (135i20) and PAC (194e17) clone...
To contribute to the development of the transcription map of human chromosome 21 (HC21), we have used exon trapping to identify portions of HC21 genes. One trapped exon showed strong homology with members of the neural cell adhesion molecule (NCAM) family of genes from different species. We subsequently cloned the complete coding sequence from a human fetal brain cDNA library and determined its nucleotide...
We have investigated whether there is a locus on chromosome 6 that confers an increased susceptibility to schizophrenia using a two-stage approach and nonparametric linkage analysis. Allele sharing identical by descent (IBD) and multipoint maximum likelihood score (MLS) statistics were employed. Results from two tested data sets, a first data set, or genome scanning data set, and a second replication...
We recently reported the identification of a mouse cDNA encoding a new p53-associating protein that we called Mdmx because of its structural similarity to Mdm2, a well-known p53-binding protein. Here we report the isolation of a cDNA encoding the human homolog of Mdmx. The ORF of the cDNA encodes a protein of 490 amino acids, 90% similar to mouse Mdmx. The homology between Mdmx and Mdm2 is most prominent...
Chromosome band 10q24 is rich in genes involved in development, tumorigenesis, neurological disorders, hormone metabolism, and environmentally induced disease susceptibility. We have constructed an STS-based integrated physical and genetic map of 10q24 derived from the CEPH–Généthon mega-YAC contig data for this region. This map consists of 42 fluorescencein situhybridization-mapped overlapping CEPH...
A major role of the peptide hormone somatostatin is inhibition of growth hormone secretion. The effects of somatostatin are mediated through five distinct G-protein-coupled receptors, each of which is expressed in the pituitary gland and other tissues. Allelic variation in the five somatostatin receptor genes (Smstr) could contribute to growth rate and overall body size. To evaluate this hypothesis...
TheRhoH/TTF(ARHH) gene encodes a new member of the Ras superfamily of small GTPases. The gene was identified by fusion to theBCL6/LAZ3oncogene in an initially described t(3;4)(q27;p11) translocation in a non-Hodgkin's lymphoma cell line. The predicted amino acid sequence of theRhoH/TTFgene product includes Rho-like GTPase structural motifs. TheRhoH/TTFgene is restrictively expressed in hematopoietic...
Deletion of genes from the chromosome 21 region between APP and SOD1 is a potential cause of some of the major phenotypic features of monosomy 21 patients. Fine physical mapping helps identify potential candidate genes. After selecting nonchimeric YACs by FISH analysis, we determined their marker contents by PCR and hybridization studies. Fifteen YACs were chosen and mapped by restriction enzyme analysis...
Edg-1,an immediate-early gene induced during thein vitrodifferentiation of human endothelial cells, encodes a G-protein-coupled receptor (GPR) that signals via the G i /mitogen-activated protein kinase (MAP kinase) pathway (Lee, M.-J., Evans, M., and Hla, T. (1996)J. Biol. Chem.271, 11272–11279). It is a prototypical member of the subfamily of “orphan” receptors that are expressed in the cardiovascular...
Successful transfer of yeast artificial chromosomes (YACs) into human cells has been described in only a single study. We here report on the evaluation of YAC transfer strategies into a human renal cell carcinoma cell line by yeast spheroplast fusion and cationic lipids. While the latter approach proved inefficient, significant numbers of clones containing both vector arms were obtained by spheroplast...
We have isolated a prostate-specific gene (NKX3.1) in humans that is homologous to theDrosophilaNK homeobox gene family. Northern blot analyses indicate that this gene is expressed at high levels in adult prostate and at a much lower level in testis, but is expressed little or not at all in several other tissues. In an androgen-dependent prostate carcinoma line, LNCaP,NKX3.1mRNA is expressed at a...
The recessive mouse mutationstaggerer(sg) disturbs the normal development of cerebellar Purkinje cells and affects certain functions of the immune system. To identify the causative gene, we constructed high-resolution genetic and physical maps of the staggerer locus on mouse chromosome 9. The transcription unit of the orphan nuclear receptor RORα was identified in the critical interval. Our mutational...
Analysis of 784 informative meioses in the CEPH pedigrees revealed a total of 22 recombination events having occurred in the 6-Mb region between D6S265 (70 kb centromeric of HLA-A) and D6S276. These 22 breakpoints were localized with respect to anonymous polymorphic markers, leading to a detailed genetic map of the region telomeric to the human major histocompatibility complex. A nonrandom pattern...
The region of chromosome 14q24 has been of particular interest as it is known to contain one of the early-onset Alzheimer disease genes (AD3). Other genes of medical interest, such as arrhythmogenic right ventricular cardiomyopathy, have been mapped to this region by linkage analysis or chromosome rearrangements. We have focused on the region of a balanced translocation (2;14)(p25;q24). Members of...
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