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At least 127 records · Page 7Linked to original sources
PubMed1993

The role of a Drosophila POU homeo domain gene in the specification of neural precursor cell identity in the developing embryonic central nervous system.

The Drosophila embryonic central nervous system (CNS) is derived from a stereotypic array of progenitor stem cells called neuroblasts (NBs). Each of the approximately 25 NBs per hemisegment undergoes repeated asymmetric divisions to produce, on average, 5-10 smaller ganglion mother cells (GMCs); each GMC, in turn, divides to produce two neurons. We demonstrate that the protein product encoded by a POU homeo domain gene (dPOU28/pdm-2) is expressed in the cell nuclei of a subset of NBs and GMCs. In the wild-type animal, GMC-1 is the only identified cell in the NB4-2 lineage that expresses dPOU28 protein to a high level, and it divides to produce the RP2 neuron and a second cell of unknown fate. Our results suggest that the presence of ectopically induced dPOU28/pdm-2 protein in the progeny of GMC-1 is sufficient to cause both of these cells to adopt their parental GMC-1 cell fate, leading to duplication of the RP2 neuron (and its sister cell) on the basis of both immunological and morphological criteria. These observations clearly implicate a role for dPOU28/pdm-2 in the specification of GMC-1 cell identity in the NB4-2 lineage and possibly in the specification of cell fate in other NB lineages in the developing embryonic CNS.

Animals↗
PubMed1988

Expression and function of the segmentation gene fushi tarazu during Drosophila neurogenesis.

Segmentation genes control cell identities during early pattern formation in Drosophila. One of these genes, fushi tarazu (ftz), is now shown also to control cell fate during neurogenesis. Early in development, ftz is expressed in a striped pattern at the blastoderm stage. Later, it is transiently expressed in a specific subset of neuronal precursor cells, neurons (such as aCC, pCC, RP1, and RP2), and glia in the developing central nervous system (CNS). The function of ftz in the CNS was determined by creating ftz mutant embryos that express ftz in the blastoderm stripes but not in the CNS. In the absence of ftz CNS expression, some neurons appear normal (for example, the aCC, pCC, and RP1), whereas the RP2 neuron extends its growth cone along an abnormal pathway, mimicking its sibling (RP1), suggesting a transformation in neuronal identity.

Animals↗
PubMed1992

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical profiles in X linked RP as a function of age and mode of onset. The first clinical form has very early onset with severe myopia. The second form starts later with night blindness with mild myopia or none. At least two genes have been identified in X linked forms, namely RP2 (linked to DXS7, DXS255, and DXS14) and RP3 (linked to DXS84 and OTC) on the short arm of the X chromosome. In order to contribute to phenotype-genotype correlations in X linked RP, we tested the hypothesis that the two clinical profiles could be accounted for by the two different gene loci. The present study provides evidence for linkage of the clinical form with early myopia as the onset symptom with the RP2 gene (pairwise linkage to DXS255: Z = 3.13 at theta = 0), while the clinical form with later night blindness as the onset symptom is linked to the RP3 gene (pairwise linkage to OTC: Z = 4.16 at theta = 0).

Female↗
PubMed2002

Expression of components of the IGF signalling system in childhood acute lymphoblastic leukaemia.

BACKGROUND: Alterations in the insulin-like growth factor (IGF) system have been reported for different tumours. They are of particular interest in the search for new prognostic and therapeutic approaches in cancer. In childhood acute lymphoblastic leukaemia (ALL) the amount of "tumour mass" at diagnosis can exceed 1 kg. To understand the endocrine, paracrine, and autocrine potential of the malignant transformed progenitor cells, the ability of these cells to express components of the IGF system needs to be investigated. AIM: To characterise the expression pattern of genes of the IGF system in malignant lymphoblasts of children suffering from ALL. METHODS: Reverse transcription polymerase chain reaction of Ficoll separated mononuclear cells from 142 children with ALL, 127 cord blood samples, and 55 blood samples of age matched controls were studied. RESULTS: The expression of IGF-I, IGF-II, IGF binding protein 5 (IGFBP-5), and CTGF (IGFBP-rP2) was seen in a higher proportion of mononuclear cells of patients with ALL than in controls. Patients with ALL who were in continuous remission had a lower percentage of IGFBP-2 and IGFBP-3 expressing mononuclear cells at diagnosis than did those who developed a relapse. Only malignant lymphoblasts of B cell origin showed expression of CTGF (IGFBP-rP2). Malignant lymphoblasts of T cell origin more often expressed IGFBP-2 and IGFBP-5, whereas IGF-II and IGFBP-3 expression was seen more often in lymphoblasts of B cell origin. CONCLUSIONS: Malignant lymphoblasts of patients with ALL express components of the IGF system and therefore promote their own growth in an autocrine, paracrine, or endocrine manner. Whether these components will be useful as prognostic factors in the stratification of ALL treatment in children needs to be evaluated.

Biomarkers, Tumor↗
PubMed2000

Organizations and gene duplications of the human and mouse MHC complement gene clusters.

The MHC complement gene cluster (MCGC) in most people contains thirteen structural genes, pseudogenes and gene segments. Novel genes RD, SKI2W, DOM3Z and RP1 are organized as two head-to-head gene pairs between complement gene Bf and the first locus of C4. Southern blot analysis shows that single-copy genes for DOM3Z are detectable in primates and other mammals. Sequence analyses revealed that the exon- intron structures of human and mouse DOM3Z genes are identical. Both human and mouse DOM3Z transcripts exhibit splice variants at the 5' regions, although the open reading frames remain identical. Cloning and characterization of the mouse RP1 cDNA revealed a reading frame for 254 amino acids with a bipartite nuclear localization signal close to the amino terminus. The mouse RP1 gene consists of 7 exons and spans 12.9 kb. Located in intron 4 of mouse RP1 is an endogenous retrovirus that probably confers the androgen-responsive expression of the Slp protein in certain male mice. The availability of the complete human and mouse MCGC genomic and cDNA sequences allows further deliberate analyses of gene duplications and evolution. The intergenic region between mouse SLP and C4 genes is more than six times larger than the corresponding region in humans. It contains the functional gene steroid CYP21A, long stretches of repetitive DNA elements, and three partially duplicated gene segments TNXA, SKI2W2 and RP2. The modular duplications of human and mouse RP-C4-CYP21-TNX (RCCX) are sharply different as SKI2W2 is absent in the human MCGC, and TNXA and RP2 are smaller in size but higher in sequence conservation in humans.

Amino Acid Sequence↗
PubMed2001

Advanced glycosylation end products up-regulate connective tissue growth factor (insulin-like growth factor-binding protein-related protein 2) in human fibroblasts: a potential mechanism for expansion of extracellular matrix in diabetes mellitus.

Expansion of extracellular matrix with fibrosis occurs in many tissues as part of the end-organ complications in diabetes, and advanced glycosylation end products (AGE) are implicated as one causative factor in diabetic tissue fibrosis. Connective tissue growth factor (CTGF), also known as insulin-like growth factor-binding protein-related protein-2 (IGFBP-rP2), is a potent inducer of extracellular matrix synthesis and angiogenesis and is increased in tissues from rodent models of diabetes. The aim of this study was to determine whether CTGF is up-regulated by AGE in vitro and to explore the cellular mechanisms involved. AGE treatment of primary cultures of nonfetal human dermal fibroblasts in confluent monolayer increased CTGF steady state messenger RNA (mRNA) levels in a time- and dose-dependent manner. In contrast, mRNAs for other IGFBP superfamily members, IGFBP-rP1 (mac 25) and IGFBP-3, were not up-regulated by AGE. The effect of the AGE BSA reagent on CTGF mRNA was due to nonenzymatic glycosylation of BSA and, using neutralizing antisera to AGE and to the receptor for AGE, termed RAGE, was seen to be due to late products of nonenzymatic glycosylation and was partly mediated by RAGE. Reactive oxygen species as well as endogenous transforming growth factor-beta1 could not explain the AGE effect on CTGF mRNA. AGE also increased CTGF protein in the conditioned medium and cell-associated CTGF. Thus, AGE up-regulates the profibrotic and proangiogenic protein CTGF (IGFBP-rP2), a finding that may have significance in the development of diabetic complications.

Cells, Cultured↗
PubMed1999

Analysis of an even-skipped rescue transgene reveals both composite and discrete neuronal and early blastoderm enhancers, and multi-stripe positioning by gap gene repressor gradients.

The entire functional even-skipped locus of Drosophila melanogaster is contained within a 16 kilobase region. As a transgene, this region is capable of rescuing even-skipped mutant flies to fertile adulthood. Detailed analysis of the 7.7 kb of regulatory DNA 3' of the transcription unit revealed ten novel, independently regulated patterns. Most of these patterns are driven by non-overlapping regulatory elements, including ones for syncytial blastoderm stage stripes 1 and 5, while a single element specifies both stripes 4 and 6. Expression analysis in gap gene mutants showed that stripe 5 is restricted anteriorly by Krüppel and posteriorly by giant, the same repressors that regulate stripe 2. Consistent with the coregulation of stripes 4 and 6 by a single cis-element, both the anterior border of stripe 4 and the posterior border of stripe 6 are set by zygotic hunchback, and the region between the two stripes is 'carved out' by knirps. Thus the boundaries of stripes 4 and 6 are set through negative regulation by the same gap gene domains that regulate stripes 3 and 7 (Small, S., Blair, A. and Levine, M. (1996) Dev. Biol. 175, 314-24), but at different concentrations. The 3' region also contains a single element for neurogenic expression in ganglion mother cells 4-2a and 1-1a, and neurons derived from them (RP2, a/pCC), suggesting common regulators in these lineages. In contrast, separable elements were found for expression in EL neurons, U/CQ neurons and the mesoderm. The even-skipped 3' untranslated region is required to maintain late stage protein expression in RP2 and a/pCC neurons, and appears to affect protein levels rather than mRNA levels. Additionally, a strong pairing-sensitive repression element was localized to the 3' end of the locus, but was not found to contribute to efficient functional rescue.

3' Untranslated Regions↗
PubMed2006

A novel locus for X-linked retinitis pigmentosa.

INTRODUCTION: Retinitis pigmentosa (RP) is the most prevalent group of inherited retinopathies and demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and to identify the disease-causing gene/locus. MATERIALS AND METHODS: Ophthalmic examination was performed on 35 family members to identify affected individuals and carriers and to characterise the disease phenotype. Genetic linkage analysis was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for Xlinked RP (xlRP) including RP2, RP3, RP6, RP23, and RP24. Mutation screening was performed by direct sequencing of PCR-amplified genomic DNA of the RP2 and RPGR genes of the affected individuals. RESULTS: A highly penetrant, X-linked form of RP was observed in this family. Age of onset was from 5 to 8 years and visual acuity ranged from 20/25 in children to light perception in older adults. Linkage analysis and direct sequencing showed that no known loci/genes were associated with the phenotype in this kindred. CONCLUSION: A novel disease gene locus/loci is responsible for the xlRP phenotype in this family.

Adolescent↗
PubMed1981

[Validity of radioimmunoassay for blood and pituitary prolactin in the male rat. Effect of bromocriptine and thyrotropin-releasing hormone].

Validity of a radioimmunoassay for rat prolactin (PRL) in serum and pituitary is analysed in adult male rats. Data are presented bearing on the accuracy, precision and sensitivity of the method. Serum levels and pituitary content are respectively ranged from 2.56 to 28.03 ng PRL RP2 ml-1 and from 7.36 to 21.44 microgram PRL RP2 per gland in intact animals. Treatment with bromocriptine (10 days) results in a decrease of serum PRL levels and pituitary PRL contents. In progesterone-estradiol benzoate pretreated rats, serum PRL levels are increased 20 min after the injection of TRH.

Animals↗
PubMedDate not supplied

Inbreeding from isonymy and repeated pairs of surnames in the Ebro Delta region (Tarragona, Spain).

The aim of the study was to evaluate the levels of inbreeding calculated from isonymy with its random (Fr) and nonrandom (Fn) components, and repeated pairs of surnames (RP2) and their random component (RP2r) in the Ebro River Delta region (Tarragona, Spain). This region is made up of four parishes, and data correspond to the period 1939-1995. The global results are on the same levels as observed in other studies, but the values obtained in 3 of 4 parishes are relatively high. The Fn global value is higher than Fr, as opposed to what happens in each parish, so there is a clear Wahlund effect of subdivision of the region into parishes. Among the parishes there is a clear differentiation for Amposta, with values much lower than for the rest, due to the behavior of this population, i.e., a high immigration rate.

Consanguinity↗
PubMed1994

XLPRA: a canine retinal degeneration inherited as an X-linked trait.

Breeding studies are reported of a previously undescribed hereditary retinal degeneration identified in the Siberian Husky breed of dog. This disorder clinically resembles the previously reported autosomal recessive canine hereditary retinal degenerations collectively termed progressive retinal atrophy (PRA). However, the pedigree of the propositus, a male Siberian Husky, exhibited an X-linked pattern of transmission. This dog was outcrossed to three phenotypically normal female laboratory Beagles and two of their F1 daughters were bred to a phenotypically normal male Beagle, producing affected males in the F2 generation. Subsequent inbreedings produced further affected males and affected females as well. X-linked transmission was established by exclusion of alternative modes of inheritance and, consequently, the disease has been termed X-linked progressive retinal atrophy (XLPRA). This is the first reported X-linked retinal degeneration in an animal. Because of the many similarities of PRA in dogs to retinitis pigmentosa (RP) in humans, this new disease may not only represent the first animal model of X-linked RP (XLRP) but may well be a true homolog of one of the XLRP loci (RP2, RP3, RP6). It is the first retinal degeneration in dogs that can be assigned to an identified canine chromosome, and the first for which linkage mapping offers a realistic approach to proceed by positional cloning towards identifying the responsible gene locus.

Alleles↗
PubMed1994

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.

Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.

DNA Probes↗
PubMed1997

Follicle-stimulating hormone in the brushtail possum (Trichosurus vulpecula): purification, characterization, and radioimmunoassay.

Follicle-stimulating hormone (FSH) was purified from brushtail possum (Trichosurus vulpecula) pituitary glands by using the following purification techniques: fractional ammonium sulfate precipitation, triazinyl-dye affinity chromatography, hydrophobic interaction chromatography, and gel filtration. A yield of 18 micrograms of FSH per gram of pituitary, with a recovery of 12%, was obtained from 1400 glands (20.3 g wet weight). The purified FSH activity per gram of protein was 1320 times more potent than the initial pituitary homogenate. Contamination with possum luteinizing hormone (LH) was < 0.02%. The amino acid composition of possum FSH was similar to that of ovine FSH. Amino-terminal sequencing for 11 cycles indicated that the alpha subunit has the same sequence as ovine FSH except for residue 7, where the possum FSH alpha subunit contains isoleucine compared to the ovine subunit which contains threonine. The beta subunit has two substitutions in the first 11 residues and does not contain the N terminal serine that is found in ovine FSH. Amino acid sequencing did not detect any contaminating proteins. Possum FSH bound possum and bovine testicular receptors with similar affinities. It was also able to stimulate in vitro cAMP production by Chinese hamster ovary cells which express recombinant FSH receptors. In the receptor assays and the bioassay possum FSH has about 21% of the potency of ovine FSH (USDA-oFSH-19-SIAFP-RP2). An RIA was developed for possum FSH using 125I-possum FSH and an antiserum raised against human FSH. The RIA has a sensitivity of 0.3 ng/ml, a 50% displacement of 2.7 ng/ml, and a cross reactivity of 0.05% against possum LH. Plasma FSH levels in male possums (10.4 +/- 2.4 ng/ml, n = 4) were higher (P < 0.05) than levels in females (1.0 +/- 0.1 ng/ml, n = 4). Five days after gonadectomizing these possums the plasma FSH levels increased (P < 0.05) to 27.1 +/- 0.2 ng/ml in the males and to 6.6 +/- 2.0 ng/ml in the females. In summary, we have purified and partially characterized possum FSH. We have also set up an RIA for the hormone and shown that males have higher levels than females and that plasma FSH increases after gonadectomy.

Amino Acid Sequence↗
PubMed2002

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Human chromosome Xp11.3-Xp11.23 encompasses the map location for a growing number of diseases with a genetic basis or genetic component. These include several eye disorders, syndromic and nonsyndromic forms of X-linked mental retardation (XLMR), X-linked neuromuscular diseases and susceptibility loci for schizophrenia, type 1 diabetes, and Graves' disease. We have constructed an approximately 2.7-Mb high-resolution physical map extending from DXS8026 to ELK1, corresponding to a genetic distance of approximately 5.5 cM. A combination of chromosome walking and sequence-tagged site (STS)-content mapping resulted in an integrated framework and transcript map, precisely positioning 10 polymorphic microsatellites (one of which is novel), 16 ESTs, and 12 known genes (RP2, PCTK1, UHX1, UBE1, RBM10, ZNF157, SYN1, ARAF1, TIMP1, PFC, ELK1, UXT). The composite map is currently anchored with 89 STSs to give an average resolution of approximately 1 STS every 30 kb. By a combination of EST database searches and in silico detection of UniGene clusters within genomic sequence generated from this template map, we have mapped several novel genes within this interval: a Na+/H+ exchanger (SLC9A7), at least two zincfinger transcription factors (KIAA0215 and Hs.68318), carbohydrate sulfotransferase-7 (CHST7), regucalcin (RGN), inactivation-escape-1 (INE1), the human ortholog of mouse neuronal protein 15.6, and four putative novel genes. Further genomic analysis enabled annotation of the sequence interval with 20 predicted pseudogenes and 21 UniGene clusters of unknown function. The combined PAC/BAC transcript map and YAC scaffold presented here clarifies previously conflicting data for markers and genes within the Xp11.3-Xp11.23 interval and provides a powerful integrated resource for functional characterization of this clonally unstable, yet gene-rich and clinically significant region of proximal Xp.

Chromosome Mapping↗
PubMed1992

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities.

The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.

Ciliary Motility Disorders↗
PubMed1992

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.

Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.

Animals↗
PubMed1995

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

Chromosome Mapping↗
PubMed1993

Stereoselective, competitive, and nonlinear plasma protein binding of ibuprofen enantiomers as determined in vivo in healthy subjects.

The plasma protein binding and competitive inhibition parameters of R(-)- and S(+)-ibuprofen were determined in vivo in 12 healthy subjects. Subjects participated in a 4 x 4 Latin square design in which oral solutions of drug were administered as 300 mg R(-)-ibuprofen, 300 mg S(+)-ibuprofen, 300 mg R(-)- + 300 mg S(+)-ibuprofen, and 300 mg R(-)- + 600 mg S(+)-ibuprofen. Unlabeled ibuprofen enantiomers were quantitated using a stereospecific reversed-phase HPLC assay, and plasma protein binding experiments were performed using radiolabeled 14C-enantiomers and an ultrafiltration method at 37C. At therapeutic drug concentrations, the protein binding of each enantiomer was greater than 99%. Furthermore, the binding of ibuprofen enantiomers was stereoselective and mutually competitive, as well as nonlinear. The bound-free data were fitted to a model in which the non-linearity of plasma protein binding and competition between enantiomers for binding sites could be accommodated. There were substantial differences in the affinity of ibuprofen enantiomers for protein binding sites (RP2 = 0.358 +/- 0.185 vs. SP2 = 0.979 +/- 0.501 micrograms/ml; mean +/- SD) but no differences in their binding capacity (RP1 = 160 +/- 86 vs. SP1 = 161 +/- 63 micrograms/ml). Although statistically significant, the differences in competitive inhibition parameters were more modest (SKI = 0.661 +/- 0.363 vs. RKI = 0.436 +/- 0.210 micrograms/ml). As a result, the intrinsic binding (i.e., P1/P2) of R(-)-ibuprofen was greater than S(+)-ibuprofen, and the unbound fraction was significantly greater for S-enantiomer vs. R-enantiomer after a given dose of R-ibuprofen or racemate.

Adult↗