Integrated physical and transcript map of 5q31.3-qter.

We have constructed a physical and transcript map of 5q31.3-qter. The contig comprises 173 yeast artificial chromosomes (YACs) to which 159 sequence tagged sites (STSs), 47 expressed sequence tags (ESTs), and 32 genes were assigned.

Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome.

The 5q- syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q- syndrome patients have a favourable prognosis and a low rate of transformation to acute leukaemia. We have previously delineated a common deleted region of 5.

Genomic structure and complete sequence of the human FGFR4 gene.

We report the genomic structure and entire sequence of the fibroblast growth factor receptor 4 (FGFR4) gene. The gene spans approximately 11.3 kb.

AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism.

We have mapped AFX1 and p54nrb to a yeast artificial chromosome (YAC) contig of Xq13.1 that harbors the X-linked dystonia parkinsonism (XDP) locus DYT3. AFX1 is flanked by loci DXS7116 and Il2R gamma, and p54nrb by loci DXS6673E and DXS7120.

Novel genes mapping to the critical region of the 5q- syndrome.

The 5q- syndrome is a myelodysplastic syndrome with specific hematological features and a good prognosis. Using molecular mapping techniques, we have previously defined the critical region of gene loss of the 5q- chromosome in the 5q- syndrome as the approximately 5-Mb region at 5q31-q33 flanked by the genes for FGF1 and IL12B. This region is completely represented by a series of overlapping YACs, and we are currently generating a transcription map with the aim of identifying the tumor-suppressor gene associated with the development of the 5q- syndrome.

Evidence of a third locus in X-linked recessive spastic paraplegia.

We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.

Locus heterogeneity in Friedreich ataxia.

Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia. The disease locus was assigned to chromosome 9 and the disease gene, STM7/X25, has been isolated. To date most data suggest locus homogeneity in FRDA.

[Porencephaly in infants and children imaged with tomography].

On the basis of current bibliography verum and spurum porencephaly have been distinguished. Verum porencephaly originates in prenatal life and is defined as disorder of brain tissue development. Its main characteristic is that cave borders are covered with grey matter often connected with lateral ventricle.

[A case of developmental cerebral cortex disorder with epilepsy resistant to treatment].

Developmental disorders of the cerebral cortex were described as a local lesion in the right frontal lobe. Wide gyruses with increased density of cortical brain were observed. Changes in the cerebral cortex were correlated with clinical symptoms and EEG results and were responsible for the epilepsy resistant to any treatment.

[The influence of culinary processing on content of lead and cadmium in carrots].

The research was performed to determine both safety of carrot dishes consumption taking into account lead and cadmium intake and prospect of lowering content of these elements in carrot during culinary processing. Different but unspecified varieties of investigated carrot came from the Warsaw market and from allotments and fields in Upper Silesia. Lead and cadmium level was determined in raw material as well as the elements' distribution in different parts of carrot root.

Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.

Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T --> C transition at codon 151 of exon 5. This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date.

Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35.

Thirty-one sequence tagged sites and a highly polymorphic short tandem repeat polymorphism have been isolated from 5q34-q35 and integrated into the yeast artificial chromosome (YAC) contig of 5q34-q35. In addition, four genes (MSX2, CSX, DRD1, and CL100) and a pseudogene (GLUT6) were localized on this map. The high density of new markers in the region allowed further refinement of the YAC contig of distal 5q.

Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.

A gene cluster consisting of the four gamma-aminobutyric acidA (GABAA) receptor subunit genes GABRA1, GABRA6, GABRAB2, and GABRG2 was assigned to a yeast artificial chromosome (YAC) contig of 5q33. Two of the 26 YACs of the contig are positive for all four subunit genes. The order of the GABR subunit genes with respect to known anonymous gene loci is cen-D5S380 - D5S403 - D5S529 - GABRB2 - GABRA1/A6 - GABRG2-D 5S422-tel.

Glutamate synthase is plastid-encoded in a red alga: implications for the evolution of glutamate synthases.

An actively transcribed gene (glsF) encoding for ferredoxin-dependent glutamate synthase (Fd-GOGAT) was found on the plastid genome of the multicellular red alga Antithamnion sp. Fd-GOGAT is not plastid-encoded in chlorophytic plants, demonstrating that red algal plastid genomes encode for additional functions when compared to those known from green chloroplasts. Moreover, our results suggest that the plant Fd-GOGAT has an endosymbiotic origin.

Organization of plastid-encoded ATPase genes and flanking regions including homologues of infB and tsf in the thermophilic red alga Galdieria sulphuraria.

We have cloned and sequenced the plastid ATPase operons (atp1 and atp2) and flanking regions from the unicellular red alga Galdieria sulphuraria (Cyanidium caldarium). Six genes (5 atpI, H, G, F, D and A 3) are linked in atp1 encoding ATPase subunits a, c, b, b, delta and alpha, respectively. The atpF gene does not contain an intron and overlaps atpD by 1 bp.

Large ATP synthase operon of the red alga Antithamnion sp. resembles the corresponding operon in cyanobacteria.

The large plastid ATP synthase operon of the multicellular red alga Antithamnion sp. was cloned and the sequence of six ATPase genes determined. The operon resembles more the one from cyanobacteria than the ATP synthase operon of the chloroplast genome.

Structure of the rubisco operon from the multicellular red alga Antithamnion spec.

In the multicellular red alga Antithamnion spec. both rubisco genes (rbcL and rbcS) are encoded on the plastid DNA (ptDNA). Both genes are separated by a short A/T-rich spacer of 100 bp and are cotranscribed into an mRNA of approximately 2.