Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We isolated a human glutamate receptor subunit 7 (GluR-7) cosmid after high stringency screening of a human genomic placental library using a rat GluR-7 cDNA as a probe. A 614-bp fragment of the GluR-7 cosmid was sequenced, and an exon that encodes 53 amino acids was found between two introns. The exon exhibited 89% and 96% identity at the nucleotide and amino acid levels, respectively, with the corresponding region of rat GluR-7. The human GluR-7 was classified as a kainate subtype glutamate receptor based on its homology to rat GluR-7. Using somatic cell hybrid analysis, human GluR-7 was localized to chromosome 1. Fine mapping analysis using FISH localized the gene to 1p33-34. Since glutamate receptors of the kainate subtype have been implicated in neurodegenerative disorders, establishing the precise map position of human GluR-7 subunit is an important step towards evaluating this locus as a candidate for mutations in neurodegenerative disorders.
Somat Cell Mol Genet 1993 Nov
PMID:Chromosomal localization of gene for human glutamate receptor subunit-7. 812 18

We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34-35 on chromosome 5. The contig was nucleated using FISH mapped cosmid clones shown to flank the t(2;5)(p23;q35) translocation breakpoint in a CD30-positive large cell lymphoma cell line. Thirty of the 54 YAC clones are non-chimeric and six span the translocation breakpoint, as determined by FISH analysis. A total of 28 YAC clone end fragments, 14 non-polymorphic YAC end STS probes and 13 polymorphic microsatellite STS markers have been used to order clones within the contig. The most distal genetic markers (D5S498 and D5S619) are separated by 15 cM based on multipoint linkage analysis. This map of overlapping clones and the set of densely spaced physical markers will promote our understanding of the 5q34-35 region and its associated genes.
Hum Mol Genet 1994 Jan
PMID:Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34-35. 816 60

The celebration of the 25th Anniversary of the Environmental Mutagen Society provides an excellent opportunity to assess the status of research in a broad range of areas, with an emphasis on the directions in which they are going. This chapter concentrates on the analysis of chromosomal alterations in mammalian germ cells. The future developments in germ cell cytogenetics research will build heavily upon techniques developed over the past 25 years. With these it is possible to assess numerical and structural alterations in the male in differentiating spermatogonia, spermatocytes, and post-meiotic cells (at the first cleavage division) and for the female in oocytes and the zygote. The most predictable advances will be in the identification of specific alterations through FISH of interphase spermatozoa in humans and further improvements with the human sperm/hamster egg in vitro fertilization technique. Of particular importance is the fact that this will allow for the study of effects in human germ cells. From a more speculative viewpoint it might be possible to assess the role of particular genomic organization on genetic outcomes by direct observation; these might include genomic imprinting and the visual separation of male and female genomes. The overall aim of germ cell cytogenetic studies will remain as improving our ability to identify and estimate the true genetic risk in humans.
Environ Mol Mutagen 1994
PMID:Future of germ cell cytogenetics. 816 9

DiGeorge syndrome (DGS) is one of several syndromes associated with deletions within the proximal long-arm of chromosome 22. The region of chromosome 22q11 responsible for the haploinsufficiency syndromes (the DiGeorge Critical Region or DGCR) has been mapped using RFLPs, quantitative Southern blotting and FISH. Similar deletions are seen in the velo-cardio-facial syndrome (VCFS) and familial congenital heart defects. It is not known whether the phenotypic spectrum is the result of the hemizygosity of one gene or whether it is a consequence of contiguous genes being deleted. However, the majority of patients have a large (> = 2Mb deletion). In this paper we report the isolation of a gene, lab name T10, encoding a serine/threonine rich protein of unknown function which maps to the commonly deleted region of chromosome 22q11. Studies in the mouse indicate that it maps to MMU16 and is expressed during early embryogenesis. Although not mapping within the shortest region of overlap for DGS/VCFS, and therefore not the major gene involved in DGS, the expression pattern suggests that this gene may be involved in modifying the haploinsufficient phenotype of hemizygous patients.
Hum Mol Genet 1993 Oct
PMID:Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. 826 9

To explain the restriction of early onset cases of myotonic dystrophy (DM) to maternal transmittance and the significant excess of male transmitters in the last asymptomatic generation, the involvement of parental effects on the autosomal dominant mode of inheritance has been suggested. Using FISH we confirmed that the DM-kinase gene is proximal to the ApoE gene on mouse chromosome 7, close to an imprinted segment. To study whether there is any firm molecular basis for the speculation that imprinting may be involved in DM we have analysed the expression of paternal and maternal alleles of the DM-kinase gene in human and mouse tissues. Length polymorphisms in the 3' non coding exons of human and mouse DM kinase genes, i.e. the variable [CTG]n repeat motif in humans and a newly identified Cn stretch variation in mice, served as tools to distinguish between allelic RNA products in various tissues. In human tissues, presence of transcripts from both parental alleles could be demonstrated by RT-PCR. In mouse, similar observations were made using a RNAse protection assay on fetal and adult muscle RNAs. We conclude that imprinting does not play a role in the expression of the DM kinase gene.
Hum Mol Genet 1993 Aug
PMID:No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues. 840 5

Repetitive DNA sequences comprise a large percentage of plant genomes, and their characterization provides information about both species and genome evolution. We have isolated a recombinant clone containing a highly repeated DNA element (SB92) that is homologous to ca. 0.9% of the soybean genome or about 10(5) copies. This repeated sequence is tandemly arranged and is found in four or five major genomic locations. FISH analysis of metaphase chromosomes suggests that two of these locations are centromeric. We have determined the sequence of two cloned repeats and performed genomic sequencing to obtain a consensus sequence. The consensus repeat size was 92 bp and exhibited an average of 10% nucleotide substitution relative to the two cloned repeats. This high level of sequence diversity suggests an ancient origin but is inconsistent with the limited phylogenetic distribution of SB92, which is found at high copy number only in the annual soybeans. It therefore seems likely that this sequence is undergoing very rapid evolution.
Plant Mol Biol 1995 Nov
PMID:Genomic organization and evolution of the soybean SB92 satellite sequence. 854 10

Three copper-resistant variants of cultured Chinese hamster ovary (CHO) cells were isolated and each was shown to accumulate less intracellular copper than the parental cells when grown in copper-supplemented media. The reduced copper accumulation was related to enhanced copper efflux. As cultured cells from patients with Menkes disease (mutations in MNK; ATP7A gene) accumulate copper, probably due to defective copper efflux, we investigated the possible role of the MNK gene in the molecular basis of copper resistance. We found increased MNK mRNA and MNK protein in all three resistant variants. The MNK protein, which has not been previously demonstrated experimentally in mammalian cells, was observed to have an apparent molecular weight of 178 kDa on SDS gels. The degree of increase in MNK mRNA and protein correlated well with the level of copper resistance and extent of copper efflux. By Southern blot and FISH analysis we determined that the molecular basis for overexpression of MNK was genomic amplification of the MNK gene. These data, combined with the clinical and cellular phenotype in Menkes disease, provide strong evidence that the MNK protein is involved in transmembrane copper efflux, and demonstrate a new system of gene amplification in mammalian cells.
Hum Mol Genet 1995 Nov
PMID:Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. 858 89

Using a bromodeoxyuridine incorporation method to detect replicated DNA, we studied allele-specific replication of several sites within the human Prader-Willi/Angelman and IGF2/H19 imprinted regions. No obvious allele-specific differences in time of replication were detected at most loci previously reported to replicate asynchronously in the same cell types as determined by a FISH-based replication assay. Our finding of an absence of allelic replication asynchrony may be related to low levels of imprinted gene expression near these loci in the examined cells (lymphocytes, fibroblasts and lymphoblastoid cells). This view is supported by our studies of the imprinted SNRPN gene in that cells with paternal allele-specific expression (lymphocytes and lymphoblasts) replicate SNRPN alleles asynchronously, whereas cells with a low level of expression (HeLa) replicate SNRPN later and with less allelic asynchrony. In lymphoblasts, the early replicating allele of SNRPN was identified as the paternal one based on the properties of maternal allele-specific methylation and paternal allele-specific expression. Our studies suggest that FISH data implying replication asynchrony in nonexpressing cells reflect structural differences between the maternal and paternal alleles rather than differences in replication timing.
Hum Mol Genet 1995 Dec
PMID:Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci. 863

We describe the use of ratio-mixing FISH to visualize simultaneously probe sets specific for chromosomes 13, 18 and 21 as well as both sex chromosomes in uncultured lymphocytes and amniocytes. This method has the advantage of a smaller sample requirement than uni-colour FISH and potential for analysis of a larger number of chromosome aneuploidies using a minimum number of different probe haptenization and detection systems. An unselected series of uncultured lymphocytes and amniocytes was used to investigate the reliability of ratio-mixing FISH for diagnostic applications. The results indicate that the five-colour ratio-mixing FISH is a reliable technique and can be used for simultaneous detection of major aneuploidies. However, as a diagnostic approach, the strategy of using a three-colour ratio-mixing FISH and a dual colour to detect the five clinically important aneuploidies on two slides from the same sample, appears to be simpler and more practical.
Mol Cell Probes 1996 Apr
PMID:A practical strategy for detection of major chromosome aneuploidies using ratio-mixing fluorescence in situ hybridization. 873 99

Preimplantation polar body diagnosis makes it possible to detect and avoid genetic and chromosomal disorders before pregnancy. We have shown that the polar body biopsy does not affect fertilization and viability of the resulting embryos. Our present experience of polar body diagnosis includes 187 clinical cycles, performed for preimplantation diagnosis of cystic fibrosis, alpha-1-antitrypsin deficiency, Tay-Sach's disease, retinitis pigmentosa, hemophilia A, Alport and sickle cell disease, and common aneuploidy, using the FISH technique. Over three-quarters of these cycles have resulted in embryo transfer, 38 in clinical pregnancy and 12 in the birth of an unaffected child. The present review describes the results of our clinical trial on the polar body diagnosis of genetic and chromosomal disorders, demonstrating the reliability of polar body genetic analysis for preimplantation diagnosis.
Biochem Mol Med 1996 Jun
PMID:Preimplantation polar body diagnosis. 880 40


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>