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Biomedical subjects

V Reed

Publications and source records attributed to V Reed.

At least 37 records · Page 2Linked to original sources
PubMed1998

MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis.

MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13.1 using X chromosome-specific somatic cell hybrids, and the mouse Msg1 gene was mapped 1.9 +/- 1.3 cM proximal to Xist using an interspecific backcross panel. Both the human and the mouse MSG1 genes consist of three exons and two introns within 5 kb of genomic DNA, and their genomic structures are highly conserved. Southern blot analysis suggests the existence of MSG1 homologues in chicken, zebrafish, and Drosophila. A 2.0-kb fragment of the 5'-flanking region of the mouse Msg1 gene contains a TATA box and potential binding sites for several transcription factors including USF, Brn-3, Brn-2, TFE3, Oct-1, AP-2, and Spl. This promoter fragment activates transcription of a reporter gene in pigmented melanoma cells, but not in amelanotic melanoma cells or nonmelanocytic cells, indicating that Msg1 expression is at least partially regulated at the transcriptional level.

Animals↗
PubMed1998

The relationship of agoraphobia and panic in a community sample of adolescents and young adults.

BACKGROUND: Data are presented on the prevalence of DSM-IV panic and agoraphobia in a community sample of adolescents and young adults in Munich, Germany. METHODS: A total of 3021 respondents aged 14 to 24 years were assessed with a revised version of the Composite International Diagnostic Interview (CIDI). Respondents classified as having agoraphobia without panic were subtyped by number of agoraphobic trigger situations and subjected to a clinical review. RESULTS: Lifetime prevalence of DSM-IV agoraphobia in the revised CIDI was higher (8.5%) than that of panic attack (4.3%) or panic disorder with (0.8%) or without (0.8%) agoraphobia. Marked differences in symptomatology, course, and associated impairments between panic disorder and agoraphobia were found. Most patients with agoraphobia reported neither full nor limited attacks or uncued paniclike experiences. Clinical review revealed that many respondents classified by the CIDI as having agoraphobia actually have specific phobia, resulting in a corrected agoraphobia prevalence of 3.5%. Number of agoraphobia trigger situations was identified as a useful way of differentiating patients with true agoraphobia from those with simple phobia. Even after correcting for overdiagnosis, however, the majority of respondents with confirmed agoraphobia were found not to have a prior history of panic. CONCLUSIONS: The results call into question the assumed key pathogenic role of panic attacks in the onset of agoraphobia. Consistent with findings that agoraphobia without panic is rarely seen in clinical settings, we find that such patients seldom seek professional treatment.

Adolescent↗
PubMed1998

Measuring risk and related behaviour with the Behavioural Status Index (BSI): some preliminary psychometric studies.

British Special Hospitals are key caregivers for mentally disordered individuals who may display extreme anti-social and challenging behaviour. Assessment of risk and related diurnal behaviour is central to treatment planning for these patients. This paper describes a behaviourally based assessment instrument to assist in the process of the assessment of these 'risky' and related diurnal behaviour. Results of some early data analysis are reported.

Aggression↗
PubMed1997

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.

Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and phenotype, are caused by mutations in Atp7a, the mouse homologue of ATP7A. As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr). Although no causal mutation was found in Atp7aMo-13H, mutations which can be predicted to affect Atp7a function were identified in Atp7aMo-br and Atp7aMo-vbr. A 6 bp deletion of nucleotides 2478-2483, which can be predicted to affect the correct processing of the protein, was found in Atp7aMo-br and an A3189-->C nucleotide change, which results in lysine-->threonine amino acid substitution in the phosphorylation domain, was found in Atp7aMo-vbr. Thus we provide further proof that mottled mutants will provide excellent models for MD as well as OHS.

Adenosine Triphosphatases↗
PubMed1997

The fetal aortic pressure pulse waveform in normal and compromised pregnancy.

OBJECTIVE: To study the arterial pressure waveform in the descending thoracic aorta during pregnancy in both normal and compromised fetuses. DESIGN: The pressure pulsation waveform propagated along the vascular tree, and acting laterally on the arterial wall, produces a corresponding change in the vessel diameter. The distance between diametrically opposite points of the aortic lumen was followed using a phase locked loop echo tracking system coupled to a B-mode ultrasonic imager (central frequency 3.5 MHz). SETTING: Tertiary referral unit, teaching hospital. PARTICIPANTS: A cross-sectional study of 80 normal fetuses between 20 and 40 weeks yielded normal data. We studied 58 women with evidence of potential fetal compromise (high umbilical artery systolic: diastolic ratio). MAIN OUTCOME MEASURES: From the aortic diameter waveform we measured the maximum systolic and minimum diastolic dimension and calculated pulse amplitude. The first derivative of the aortic diameter waveform identified the incisura of aortic and pulmonary valve closure and was used to time the end of ventricular ejection and systole. RESULTS: In normal pregnancy there was an increase in systolic and diastolic diameter and pulse amplitude with advancing gestation. Ventricular ejection time was constant. In the fetal compromised group the absolute systolic and diastolic diameters were within the normal range, but diastolic diameter per unit fetal weight was increased. There was a decrease in pulse amplitude as a percentage of diastolic diameter and an increase in the diastolic systolic diameter ratio. Fetal outcome was examined in relation to the diastolic systolic diameter ratio. Those with a high ratio (above 90th centile of normal group) exhibited significantly more adverse indices of fetal outcome. CONCLUSIONS: The fetal aortic pressure pulse waveform was represented by the vessel diameter waveform. In fetal compromise reduced pulse amplitude and increased diastolic to systolic diameter ratio suggest corresponding changes in arterial pressure pulse. We suggest these are the response of the cardiac pump to increased afterload imposed by the high umbilical placental vascular resistance.

Aorta, Thoracic↗
PubMed1996

The use of compound heterozygotes and Hprt selection to analyze X-linked mottled alleles associated with prenatal lethality.

X-linked mutant alleles associated with prenatal male lethality are difficult to analyze because only heterozygous females are readily available for study. Genomic analysis of the mutant allele is facilitated by the construction of somatic cell hybrids because this enables the segregation of the X Chromosomes (Chrs) that carry the mutant and wild-type alleles. We describe here a method that ensures that the X Chr carrying the mutant allele is retained in somatic cell hybrids in an active selectable state. This is achieved by mating heterozygous females to males that carry a mutation at the hypoxanthine phosphoribosyl transferase (Hprt) locus. The resultant F1 females are compound heterozygotes, and when cells from these females are fused to HPRT- Chinese hamster cells and subjected to selection in HAT medium, the only survivors are those hybrid cells that retain an active X Chr carrying the mutant allele together with the wild-type Hprt allele. We use hybrids constructed by this method to demonstrate that there are no gross deletions or genomic rearrangements present in three mottled alleles associated with prenatal male lethality.

Alleles↗
PubMed1995

Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.

ATP7B, the gene altered in Wilson disease (WD) patients, lies in a block of homology shared between human chromosome 13q14 and the central region of mouse chromosome 14. However, we have mapped the murine homologue of ATP7B (Atp7b) to mouse chromosome 8 by somatic cell hybrid analysis. Analysis of 80 interspecific backcross offspring was used to position Atp7b close to D8Mit3 and another ATPase locus, Atp4b, on mouse chromosome 8. ATP4B lies in 13q34 and is separated from ATP7B by several loci whose mouse homologues map to mouse chromosome 14. The assignment of Atp7b to mouse chromosome 8 identifies a previously unrecognized region of homology between this chromosome and human chromosome 13. This assignment suggests a possible location for the toxic milk mutation in the mouse, which has been proposed as a homologue of WD.

Animals↗
PubMed1995

The fetal central venous pressure waveform in normal pregnancy and in umbilical placental insufficiency.

OBJECTIVE: Our purpose was to study the fetal central venous pressure waveform recorded noninvasively from the inferior vena cava in normal and complicated pregnancies by means of newly developed equipment to follow the vessel lumen diameter. STUDY DESIGN: A paired ultrasonic phase-locked loop echo tracking system with a high sampling frequency (3000 Hz) was used to follow the movement (point displacement) of diametrically opposite points of the vessel wall. The lumen was measured as the interval between these points. We studied 70 normal fetuses (20 to 40 weeks) and 54 complicated pregnancies with increased umbilical placental resistance. RESULTS: The four component waves of the central venous pressure waveform (A, X, V, Y) were identified and measured in the fetal recording. The crests of the A and V waves were of approximately equal height. An increase in the descent of the Y trough was observed with advancing gestation. By means of data from the normal group, the complicated group was divided into three subgroups. In 10 fetuses the waveform was normal. In 31 there was a high pulsatile pattern with deep descent from the A crest to X trough so that the pulsatility of the waveform appeared increased. In 13 this was shallow and the pulsatility appeared reduced. Clinical outcome (nonreactive fetal heart rate, percentile birth weight, days in neonatal intensive care unit) was significantly worse in both these latter two subgroups in comparison with normal and in the low compared with the high-pulsatile group. CONCLUSIONS: Human fetal central venous pressure waveforms can be simply recorded and represented by the transluminal diameter waveform. In fetal compromise the high pulsatility waveform may result from a reduced ventricular ejection and increased end-diastolic pressure in response to the increase in ventricular afterload caused by the placental vessel obliteration. In the most profoundly compromised fetuses the low pulsatility waveform may indicate depressed myocardial function and output.

Central Venous Pressure↗
PubMed1994

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.

Menkes disease (MNK) lies immediately proximal to pphosphoglycerate kinase (PGK1) in Xq13 in human. Phenotypic similarities between MNK patients and murine mottled (Mo) mutants strongly suggest that both defects are caused by mutations at the same locus. Human MNK cDNA clones and a genomic subclone derived from a 40-kb YAC clone that includes Pgk1 have been used to position the murine homologue of Menkes disease (MNK, Mnk) immediately proximal to, and within 150-200 kb of, phosphoglycerate kinase (Pgk1) on the mouse X chromosome using interspecific backcross analysis and pulsed-field gel electrophoresis. A related autosomal locus has been mapped to mouse chromosome 18. RFLVs at Mnk between inbred strains of mice that show a strong association with the presence of the Mo phenotype have been detected. Hybridization of 4.1 kb of the 4.5-kb MNK coding sequence failed to reveal any deletions or alterations to restriction fragments containing exons of the Mnk locus in 9 Mo mutants. Furthermore, no genomic deletions or alterations > 20 kb were detected in 10 independently derived Mo mutants using pulsed-field gel electrophoresis. As no deletions or alterations at the Mnk gene were found, we suggest that any mutations in Mnk that cause the Mo phenotype are likely to be due to small changes at the nucleotide level and/or small deletions (< 20 kb) that lie outside the coding sequence.

Animals↗
PubMed1994

New insights into the man-mouse comparative map of the X chromosome.

Two conserved loci, DXHX674h and DXHX679h, which map to Xp11.22-Xp11.21 on the human X chromosome short arm, have been positioned between the loci for proteolipid protein (Plp) and the E1a subunit of pyruvate dehydrogenase (Pdha1) in the distal region of the mouse X chromosome using Mus musculus x Mus spretus interspecific backcrosses. These data, together with previous comparative mapping studies on another conserved locus (DXF34) and the locus that encodes the erythroid transcription factor (GATA1), reveal that loci that map to the proximal region of the human X chromosome short arm lie in four different regions of the mouse X chromosome and that the human and mouse X chromosomes contain a minimum of eight conserved segments.

Animals↗
PubMed1994

A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1.

We demonstrate that all the repeat elements representing the conserved loci DXF34 and DXS390 lie between the X;9 and the X;17 translocation breakpoints associated with incontinentia pigmenti type 1 (IP1). Sequence-tagged sites (STSs) at DXF34S1, DXS14, and DXS390 have been used to isolate YAC clones containing these loci, and a contig of approximately 2 Mb has been constructed. Patterns of hybridization observed in the YAC clones indicate that DXS390 comprises two distinct regions (A and B). The STS at DXS390 detects the A region and includes a polymorphic CA repeat (PIC = 0.25). This expansion of the cloned region around DXF34 and DXS390 will enable the isolation of additional conserved sequences that will help in understanding both the lesions underlying the pathogenesis of IP1 and the size and extent of the man-mouse homologous block defined by DXF34.

Animals↗
PubMed1993

Partial sequence data from three evolutionarily conserved loci from the proximal short arm of the human X chromosome; assignment of DXF34S1 to Xp11.21-cen.

DNA sequence data have been obtained from three clones derived from the human X chromosome which contain evolutionarily conserved sequences. Primers have been designed which enable these loci to be defined as sequence-tagged-sites (STS's). The assignment of one of the loci, DXF34S1, has been refined to Xp11.21-cen, thus limiting the novel pericentromeric segment of homology defined by this locus to the extreme proximal region of Xp.

Animals↗