Molecular cloning of tissue-specific transcripts of a transketolase-related gene: Implications for the evolution of new vertebrate genes

Journal Article · Tue Mar 05 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0124· OSTI ID:458996

Coy, J F; Duebel, S; Kioschis, P; Delius, H; Poustka, A ^[1]

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1. Deutsches Krebsforschungszentrum, Heidelberg (Germany); and others

As part of a systematic search for differentially expressed genes, we have isolated a novel transketolase-related gene (TKR) (HGMW-approved symbol TKT), located between the green color vision pigment gene (GCP) and the ABP-280 filamin gene (FLN1) in Xq28. Transcripts encoding tissue-specific protein isoforms could be isolated. Comparison with known transketolases (TK) demonstrated a TKR-specific deletion mutating one thiamine binding site. Genomic sequencing of the TKR gene revealed the presence of a pseudoexon as well as the acquisition of a tissue-specific spliced exon compared to TK. Since it has been postulated that the vertebrate genome arose by two cycles of tetraploidization from a cephalochordate genome, this could represent an example of the modulation of the function of a preexisting transketolase gene by gene duplication. Thiamine defiency is closely involved with two neurological disorders, Beriberi and Wernicke-Korsakoff syndromes, and in both of these conditions TK with altered activity are found. We discuss the possible involvement of TKR in explaining the observed variant transketolase forms. 34 refs., 4 figs., 1 tab.

• OSTI ID: 458996
• Journal Information: Genomics, Vol. 32, Issue 3; Other Information: PBD: 5 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
GENETIC MAPPING
VERTEBRATES
BIOLOGICAL EVOLUTION
ENZYMES
TRANSCRIPTION
TISSUE DISTRIBUTION
GENE REGULATION
GENE MUTATIONS
SPLICING
DNA SEQUENCING
ENZYME ACTIVITY
STRUCTURE-ACTIVITY RELATIONSHIPS
NERVOUS SYSTEM DISEASES
GENETICS
NUCLEOTIDES
METABOLISM
HUMAN CHROMOSOME 3
POLYMERASE CHAIN REACTION
DNA-CLONING
THIAMINE
HEREDITARY DISEASES