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Biomedical subjects

A Deppe

Publications and source records attributed to A Deppe.

11 recordsLinked to original sources
PubMed2001

Characterization and chromosome assignment of the canine gamma-sarcoglycan gene (SGCG) to CFA 25q21-->q23.

Mutations in the gene for gamma-sarcoglycan (SGCG) located on HSA 13q12 are responsible for limb girdle muscular dystrophy (LGMD2C) in human. Here we report the cloning of the canine SGCG gene together with its genomic structure and several intragenic polymorphisms. The coding part of the canine SGCG contains seven exons spanning at least 70 kb of genomic DNA. The chromosome assignment of the canine SGCG gene to CFA 25q21-->q23 confirms that the canine syntenic group 10 corresponds to CFA 25 and also supports the findings of human-canine reciprocal chromosome painting.

Animals↗
PubMed2000

Genomic organization of the dog dystroglycan gene DAG1 locus on chromosome 20q15.1-q15.2.

Dystroglycan is a laminin binding protein, which provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix. It is also involved in the organization of basement membranes. So far the genomic organization of the dystroglycan gene DAG1 has not been completely investigated. Here we report the cloning and sequencing of 162 kb of dog genomic DNA containing the complete approximately 71-kb canine DAG1 gene, which consists of three exons, with the translation start codon located in exon 2. Its 2679-nucleotide ORF encodes a polypeptide of 892 amino acids, which is highly similar to human, rabbit, and bovine orthologs. To further characterize the dog DAG1 gene we determined the transcription start site and several naturally occurring polymorphisms, which partially result in amino acid substitutions of the dystroglycan protein. The dog DAG1 gene was assigned to chromosome 20q15.1-q15.2 by FISH analysis. The analysis of the entire reported sequence revealed that the genes for aminomethyltransferase (AMT), bassoon (BSN), TCTA (T-cell leukemia translocation-associated) gene, and an as yet uncharacterized protein are located very close to the DAG1 gene. Therefore, this study defines a novel syntenic region among dog chromosome 20q15, human chromosome 3p21, and murine chromosome 9F.

Animals↗
PubMed2000

Genomic structure of the 5' end of the porcine ryanodine receptor 3 gene (RYR3).

Ryanodine receptor 3 is a calcium channel located in the membrane of the endoplasmic reticulum. We isolated eight overlapping PAC clones from the porcine ryanodine receptor 3 gene (RYR3) and determined the DNA sequences of the first and second exon together with 5.8 kb of 5' flanking region and 10.3 kb of intron sequences. By comparing the porcine genomic sequence to the human RYR3 cDNA sequence the porcine transcription start site could be mapped to a GC-rich region. Physical mapping of the isolated PAC clones revealed that the complete porcine RYR3 gene spans more than 200 kb of genomic DNA.

Animals↗
PubMed1999

Molecular characterization and chromosomal assignment of the canine protein C gene.

Protein C is a precursor to a serine protease present in the plasma that plays an important physiological role in the regulation of blood coagulation. Mutations in the human protein C gene have been linked to some cases of Morbus Perthes disease, a thrombophilic condition that results in aseptic necrosis of the femur head and neck. We have cloned the canine protein C gene to investigate whether Morbus Perthes disease in dogs is also caused by mutations within this gene. A genomic lambdaFIXII clone was isolated, and 11, 420 bp of DNA sequence were determined containing the complete protein C gene (Acc No. AJ001979). As in humans, the gene consists of nine exons with the translation start codon located in the second exon. The 1.7-kb mRNA contains a 1368-bp open reading frame coding for 456 amino acids. With the genomic protein C clone as a probe in a FISH experiment, the canine protein C gene was assigned to Chromosome (Chr) 19q21-q22. To search for possible mutations, we amplified genomic DNA from one healthy and 15 clinically and pathohistologically confirmed Morbus Perthes patients. Sequence analysis did not reveal any amino acid differences between the affected dogs and the normal control. Several nucleotide polymorphisms were detected, which however, did not result in an amino acid exchange. From these data we conclude that in contrast to human, canine Morbus Perthes disease is most likely not caused by mutations within the protein C gene.

Animals↗
PubMed1999

Molecular cloning and chromosomal assignment of the porcine 54 and 56 kDa vacuolar H(+)-ATPase subunit gene (V-ATPase).

Vacuolar proton-translocating ATPases (V-ATPase) are multisubunit enzyme complexes located in the membranes of eukaryotic cells regulating cytoplasmic pH. So far, nothing is known about the genomic organization and chromosomal location of the various subunit genes in higher eukaryotes. Here we describe the isolation and analysis of a cDNA coding for the 54- and 56-kDa porcine V-ATPase subunit alpha and beta isoforms. We have determined the genomic structure of the V-ATPase subunit gene spanning at least 62 kb on Chromosome (Chr) 4q14-q16. It consists of 14 exons with sizes ranging from 54 bp to 346 bp, with a non-coding first exon and an alternatively spliced seventh exon leading to two isoforms. The 5' end of the V-ATPase cDNA was isolated by RACE-PCR. The V-ATPase alpha isoform mRNA, lacking the seventh exon, has an open reading frame of 1395 nucleotides encoding a hydrophilic protein of 465 amino acids with a calculated molecular mass of 54.2 kDa and a pI of 7.8, whereas the beta isoform has a length of 1449 nucleotides encoding a protein of 483 amino acids with a calculated molecular mass of 55.8 kDa. Amino acid and DNA sequence comparison revealed that the porcine V-ATPase subunit exhibits a significant homology to the VMA13 subunit of Saccharomyces cerevisiae V-ATPase complex and V-ATPase subunit of Caenorhabditis elegans.

Amino Acid Sequence↗
PubMed1999

Molecular analysis of the porcine proteolipid protein (PLP) gene.

The proteolipid protein (PLP) gene codes for the most abundant protein in the central nervous system (CNS) myelin of higher vertebrates. Its function in the myelin sheath is not clear however, a series of point mutations have been shown to have devastating effects on the myelin. The structure of the PLP genes is highly conserved, comprising seven exons that code for an open reading frame of 277 amino acids. We determined a total of 20,957 bp of the porcine PLP gene and compared this sequence with the human PLP sequence. A very high similarity was detected between the non-coding regions of the PLP genes of human and pig, interrupted primarily by several transposable elements. The porcine PLP gene was assigned to the long arm of Chromosome (Chr) X (SSXq2.2-2.4). The analysis of the PLP transcripts revealed three transcription start sites within 160 bp upstream of the translation start codon. Functional studies of the 3' region showed the use of several polyadenylation signals. Three main transcripts were detected in adult pigs in the range of 3200, 2400, and 1600 nucleotides with Northern blot analysis. The usage of an alternative splice site within exon 3 was shown.

Alternative Splicing↗
PubMed1999

Light relief: the case for ocular light therapy.

Ocular Light Therapy is emerging as a significant form of therapy, particularly in psychological and psychosomatic disorders. OLT involves the projection of light through colour filters to the eyes of the client, with consequent photocurrent stimulation of cortical and hypothalamic systems.

Color Therapy↗
PubMed1986

[Central pontine myelinolysis in alcoholism. Clinical aspects, neurophysiology, computerized tomography and nuclear magnetic resonance tomography in a patient who survived].

A case of central pontine myelinolysis in a 38-year-old alcoholic is reported. The findings initially and over a course of almost 2 years, including clinical data, magnetic resonance imaging (MRI), cranial computerized tomography (CCT), evoked potentials (BAEP, VEP, SEP), EEG and EMG/ENG are presented and discussed in relation to other recent case reports, with special regard to the CCT findings. The important role of CCT is emphasized, although negative CCT findings probably do not allow exclusion of the diagnosis. MRI can be expected to play an important part in the detection of central pontine myelinolysis. The importance of BAEP as a possible method for monitoring must be clarified by further research.

Adult↗
PubMed1984

[Complex focal seizures: studies based on the cranial computer tomogram, clinical aspects and longitudinal EEG studies].

Investigations were made on 113 patients suffering from CFS. Definite or highly probable diagnosis often was set up by anamnesis, observation and clinical findings. In 93.8% the EEG was abnormal (seizure patterns 35.8%, focal abnormalities 5 8.4%, focal seizure discharges 14.1%). CCT showed pathological findings only in 58.4%. It was unavoidable in the diagnosis of tumors which were rarely found (8.8%). It showed localised brain lesions of various etiology in 31.8%, seldom perinatal brain damage or unspecific hydrocephali (17.7%). It is concluded that anamnesis, observation, clinical findings and EEG are the primary diagnostic steps in suspected CFS. EEG is the best for the patients survey, CCT, even if mostly indispensable because of its high evidence in morphological brain impairment often is of little or no use in he diagnosis of CFS, EEG and CCT are unavoidable in medical certificates.

Brain Diseases↗