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Results for “Chromosome Structures”

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At least 595 records · Page 33Linked to original sources
PubMed2000

Structure, chromosomal localization, and expression of the Drosophila melanogaster gene encoding sepiapterin reductase.

We have isolated and characterized a Drosophila melanogaster gene encoding the sepiapterin reductase (SR). The gene does not have introns. The 5'- and 3'-RACE analysis, which determined the transcription start point (tsp) and polyadenylation site, respectively, showed that the gene produces single mRNA species. The potential promoter region lacks distinct TATAAA or CCAAT box consensus sequences. RNA blot analysis revealed that the gene encodes a 1.4kb transcript that could be detected throughout development and in both heads and bodies of adults. The Drosophila SR gene maps to 15A on the X chromosome.

Alcohol Oxidoreductases↗
PubMed2000

Genomic structure, chromosomal localization and expression of the human LIM-homeobox gene LHX5.

The LIM-homeobox gene Lhx5 plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system. Mice lacking Lhx5 function show severely disorganized brain morphology and are impaired in cognition and motor coordination. In this study, we characterized the cDNA and genomic organization of the human LHX5 gene and analyzed its expression and chromosomal location. The human gene was found to contain five exons encoding a protein composed of 402 amino acids that is 98.8% identical to mouse Lhx5. By reverse transcriptase polymerase chain reaction, LHX5 transcripts were detected in fetal brain and in various regions of the adult central nervous system including the spinal cord, the thalamus, and the cerebellum. Fluorescence in situ hybridization mapped the LHX5 gene to chromosome 12, position 12q24.31-24.32. These results provide a framework for future analysis of possible association of human hereditary disorders with mutations in LHX5.

Amino Acid Sequence↗
PubMed2001

Gene structure, chromosomal localization, cDNA cloning and expression of the mouse ATP-gated ionotropic receptor P2X5 subunit.

The P2X receptors are oligomeric ligand-gated ion channels operated by extracellular ATP. Here we report the genomic and cDNA sequence of the mouse P2X(5) subunit, as well as its genomic organization, chromosomal localization and expression in select tissues. The mouse gene spans approximately 13 kb of DNA and contains thirteen exons. The cDNA encodes a 455 amino acid protein with 95% identity to the rat subunit. The P2X(5) subunit gene encodes a 2.6 kb mRNA that was found to in a number of tissues, with highest levels detected in heart and kidney. Results from rapid amplification of cDNA ends (RACE) PCR suggest that there are multiple transcriptional start sites located approximately 30-70 bp upstream from the start codon. The gene was localized to band B5 on Chromosome 11 using fluorescence in-situ hybridization (FISH), a region that has a high degree of synteny with human Chromosome 17. These results provide the initial information useful for further investigation into the functional role(s) of the P2X(5) subunit in physiological processes.

Adenosine Triphosphate↗
PubMed2002

Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).

Chronic inflammatory bowel disease is a multifactorial disorder with two major clinical forms, Crohn's disease and ulcerative colitis. One of the potential susceptibility loci for inflammatory bowel disease (IBD2) was localized at 12q13-14 in the vicinity of the deoxyribonucleic acid marker D12S83 by linkage analysis. A candidate susceptibility gene for IBD2 in this region is the AVIL gene. AVIL encodes a protein (advillin) which belongs to the gelsolin/villin family of proteins and might therefore be involved in morphogenesis of microvilli. We have determined the genomic organization of the AVIL gene, including the transcription start site and its localization with respect to D12S83. The 2457 bp coding region of AVIL consists of 19 exons and is localized to 12q14 proximal to D12S83. Primer extension analysis suggests two transcription start sites localized at -548 and -664 bp upstream to the ATG translation codon. We have evaluated AVIL as a candidate susceptibility gene for IBD2 in 24 unrelated patients with evidence of linkage to chromosome 12, as well as in 91 individuals from 19 affected IBD families for putative single nucleotide polymorphisms.

Chromosome Mapping↗
PubMedDate not supplied

Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities.

The causes of the decline in implantation rates observed with increasing maternal age are still a matter for debate. Data from oocyte donation strongly suggest that in women of advanced reproductive age, the ability to become pregnant is largely unaffected while oocyte quality is compromised. The incidence of chromosomal abnormalities in embryos is considerably higher than that reported in spontaneous abortions, suggesting that a sizable percentage of chromosomally abnormal embryos are eliminated before any prenatal diagnosis. Such loss may partly account for the decline in implantation in older women. Because of the correlation between aneuploidy and reduced implantation, it has been postulated that selection of chromosomally normal embryos could reverse this trend. Preimplantation genetic diagnosis (PGD) for aneuploidy had three objectives relevant to the present paper: (i) to increase rates of implantation, (ii) to reduce risks of spontaneous abortion, and (iii) to avoid chromosomally abnormal births. Implantation rates did not increase when only five chromosomes were analysed in blastomeres. With eight chromosomes, a significant increase in implantation was achieved. PGD can significantly reduce the incidence of spontaneous abortion. In our clinic, a significant decrease in spontaneous abortions was found, from 23 to 11% after PGD. Currently in cases diagnosed at Saint Barnabas, 0.8% chromosomally abnormal conceptions have been observed after PGD versus an expected 3.2% in a control age-matched group. It seems clear that PGD reduces the possibility of trisomic conceptions under all conditions. If a couple's main interest is to improve their chances of conceiving (improve implantation), then one should consider maternal age and number of available embryos. Improvements in conception after PGD again increase after 37 years of age with eight or nine probes. Carriers of translocations are at a high risk of miscarriage or chromosomally unbalanced offspring, and a high proportion have secondary infertility. PGD of translocations has been approached through a variety of methods, here reviewed, and has resulted in a significant reduction in spontaneous abortions. However, implantation rates in translocation carriers are directly correlated with the proportion of normal gametes, and male patients with 70% or more unbalanced spermatozoa have great difficulty in achieving pregnancy with PGD.

Abortion, Spontaneous↗
PubMed1997

Structure, chromosomal location and expression of a rice gene encoding the microsome omega-3 fatty acid desaturase.

The omega-3 fatty acid desaturases are membrane-bound enzymes catalyzing the conversion of linoleic acid to linolenic acid in lipids, and are located both in the microsome and plastid envelopes as two different isoforms. A cDNA encoding the microsome omega-3 fatty acid desaturase (OsFAD3) and the corresponding genomic clone were isolated from rice (Oryza sativa L.). The OsFAD3 gene was composed of 8 exons and 7 introns. A microsatellite was present in the second exon of the OsFAD3 gene, showing polymorphism between Indica and Japonica rice varieties. The mapping of this microsatellite showed that the OsFAD3 gene was located on chromosome 11. Expression of the OsFAD3 cDNA in tobacco hairy root tissues and subsequent analysis of fatty acid compositions demonstrated the activity of the microsome omega-3 fatty acid desaturase. The OsFAD3 mRNA was abundant in root tissues, but was hardly detectable in leaves. In root tissues, a high level of the OsFAD3 mRNA was observed at 15 degrees C and 20 degrees C, with its level decreasing markedly at temperatures below 10 degrees C. The accumulation of the OsFAD3 mRNA in leaf tissues remained at quite low levels, both at normal growth temperatures and at chilling temperatures. Similar temperature responses of the OsFAD3 gene were observed both in chilling- tolerant and in chilling-intolerant rice cultivars.

Chromosome Mapping↗
PubMed2003

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

We report the characterisation of a de novo supernumerary chromosome marker in a mosaic state (50%) by comparative genomic hybridisation (CGH) in an 8-year-old child with hypotonia, dysmorphia and mild-to-moderate mental retardation. We describe the combined use of CGH and fluorescence in situ hybridisation (FISH) to identify the origin of the additional chromosomal material. Visual analysis of 10 CGH-metaphase spreads revealed a gain of green fluorescent signal on pericentromeric region of chromosome 17. The CGH finding was confirmed by FISH analysis using a whole chromosome 17 paint, a chromosome 17 centromeric probe and the probe coding for the Smith-Magenis locus in 17p11.2. These results show that performing both CGH and FISH in combination with classical karyotyping will certainly allow the identification of imbalanced chromosome rearrangements and, by the way, allow the identification of genes involved in mental retardation and/or malformative pathology.

Child↗
PubMed2000

Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit.

Owing to the importance of interleukin (IL)-12 in regulating immune responses, we have determined the complete genomic sequence and organization of the gene encoding its p40 subunit. The genomic sequence was determined and was compared to cDNA sequences to derive exon/intron boundaries. Unusually, both the first and last of the eight exons of this gene are not translated. An extensive search identified several polymorphisms in IL-12p40, including repeat elements in introns 2 and 4 and a polymorphic Taql site in the 3'UTR. However, no polymorphisms were found which could result in amino acid substitutions. This finding places constraints on any preferential involvement of alleles of IL-12p40 in contributing to autoimmune, inflammatory or infectious diseases.

Chromosome Mapping↗
PubMed2001

Human glycosaminoglycan glucuronyltransferase I gene and a related processed pseudogene: genomic structure, chromosomal mapping and characterization.

Here we describe the characterization of the human glycosaminoglycan glucuronyltransferase I gene (GlcAT-I) and a related pseudogene. The GlcAT-I gene was localized to human chromosome 11q12-q13 by in situ hybridization of metaphase chromosomes. GlcAT-I spanned 7 kb of human genomic DNA and was divided into five exons. Northern blot analysis showed that GlcAT-I exhibited ubiquitous but markedly different expressions in the human tissues examined. The GlcAT-I promoter was approx. 3-fold more active in a melanoma cell line than in a hepatoma cell line, providing evidence for the differential regulation of the gene's expression. Stepwise 5' deletions of the promoter identified a strong enhancer element between -303 and -153 bp that included binding motifs for Ets, CREB (cAMP-response-element-binding protein) and STAT (signal transducers and activators of transcription). Screening of a human genomic library identified one additional distinct genomic clone containing an approx. 1.4 kb sequence region that shared an overall 95.3% nucleotide identity with exons 1-5 of GlcAT-I. However, a lack of intron sequences, as well as the presence of several nucleotide mutations, insertions and deletions that disrupted the potential GlcAT-I reading frame, suggested that the clone contained a processed pseudogene. The pseudogene was localized to chromosome 3. The human genome therefore contains two related GlcAT-I genes that are located on separate chromosomes.

Base Sequence↗
PubMed1998

Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.

The mitochodrial (mt) phosphoenolpyruvate carboxykinase 2 (PCK2) gene was isolated by screening a human genomic library with a rat cytosolic (cy) PCK1 cDNA probe comprising sequences from exons 2-9 and by PCR amplification of human genomic DNA spanning consecutive exons with known primer pairs from mtPCK2 cDNA containing sequences from two putative neighbouring exons. The mtPCK2 gene spans approx. 10 kb and consists of ten exons and nine introns. All exon-intron junction sequences match the classical GT/AG rule. Northern blot analysis of poly(A)+ and total RNA from various tissues revealed one mRNA species of approx. 2.4 kb. The gene is expressed in a variety of human tissues, mainly in liver, kidney, pancreas, intestine and fibroblasts. In contrast with the cytosolic isoenzyme, the mitochondrial form might not have a purely gluconeogenic function. The mtPCK2 gene maps to chromosome 14q11.2-q12, in contrast with the cyPCK1 gene located on 20q13.2-q13.31.

Animals↗
PubMed1992

Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity.

Nerve growth factor, brain-derived neurotrophic factor, and neurotrophin-3 (NT-3) are the three members of the neurotrophin family known to exist in mammals. Recently, a fourth neurotrophin (designated neurotrophin-4 or NT-4), which shares all of the features found in the mammalian neurotrophins, has been identified in Xenopus and viper. We used sequences specific to the Xenopus/viper NT-4 to isolate a neurotrophin from both human and rat genomic DNA that appears to represent the mammalian counterpart of Xenopus/viper NT-4. Human NT-4 as well as a human NT-4 pseudogene colocalize to chromosome 19 band q13.3. Mammalian NT-4 has many unusual features compared to the previously identified neurotrophins and is less conserved evolutionarily than the other neurotrophins. However, mammalian NT-4 displays bioactivity and trk receptor specificity similar to that of Xenopus NT-4.

3T3 Cells↗