Fine structure of the human galactokinase GALK1 gene

Derk J. Bergsma, Yunjun Ai, William R. Skach, Kristin Nesburn, Elizabeth Anoia, Stephanie Van Horn, Dwight Stambolian

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations


    Defects in the human GALK1 gene result in galactokinase deficiency and cataract formation. We have isolated this gene and established its structural organization. The gene contains 8 exons and spans ~ 7.3 kb of genomic DNA. The GALK1 promoter was localized and Found to have many features in common with other housekeeping genes, including high GC content, several copies of the binding site for the Sp1 transcription factor, and the absence of TATA-box and CCAAT-box motifs typically present in eukaryotic Pol II promoters. Analysis by 5'-RACE PCR indicates that the GALK1 mRNA is heterogeneous at the 5' terminus, with transcription sites occurring at many locations between 21 and 61 bp upstream of the ATG start site of the coding region. In vitro translation experiments of the GALK1 cDNA indicate that the protein is cytosolic and not associated with the endoplasmic reticulum membrane.

    Original languageEnglish (US)
    Pages (from-to)980-985
    Number of pages6
    JournalGenome Research
    Issue number10
    StatePublished - 1996

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


    Dive into the research topics of 'Fine structure of the human galactokinase GALK1 gene'. Together they form a unique fingerprint.

    Cite this