Original Investigation

Human Genetics

, Volume 108, Issue 3, pp 211-215

First online:

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

  • Pedro LazoAffiliated withCentro de Investigación del Cáncer, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas, Universidad de Salamanca, Campus Miguel de Unamuno, 37007 Salamanca, Spain
  • , Marga NadalAffiliated withCentro de Genética Médica y Molecular, Institut de Recerca Oncològica, Hospital Duran i Reynals, L'Hospitalet de Llobregat, 08907 Barcelona, Spain
  • , Milagros FerrerAffiliated withUnidad de Genética y Medicina Molecular (C.S.I.C.), Centro Nacional de Biología Fundamental, Instituto de Salud Carlos III, 28220 Majadahonda, Spain
  • , Estela AreaAffiliated withUnidad de Genética y Medicina Molecular (C.S.I.C.), Centro Nacional de Biología Fundamental, Instituto de Salud Carlos III, 28220 Majadahonda, Spain
  • , Javier Hernández-TorresAffiliated withUnidad de Genética y Medicina Molecular (C.S.I.C.), Centro Nacional de Biología Fundamental, Instituto de Salud Carlos III, 28220 Majadahonda, Spain
  • , Svetlana NabokinaAffiliated withInstituto de Biología y Genética Molecular, Facultad de Medicina, C.S.I.C.-Universidad de Valladolid, 47005 Valladolid, Spain
  • , Faustino MollinedoAffiliated withCentro de Investigación del Cáncer, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas, Universidad de Salamanca, Campus Miguel de Unamuno, 37007 Salamanca, Spain
  • , Xavier EstivillAffiliated withCentro de Genética Médica y Molecular, Institut de Recerca Oncològica, Hospital Duran i Reynals, L'Hospitalet de Llobregat, 08907 Barcelona, Spain

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Abstract.

Synaptosome-associated protein-23 (SNAP23) is a component of the cellular mechanism required for specific membrane fusion and targetting of intracellular vesicles. We have cloned the full-length human cDNA and the SNAP23 gene. The SNAP23 gene has eight exons, with the initiation codon located in exon 2, and maps to the human chromosome 15q21–22 region. The human SNAP23 gene can generate two types of message, the full-length message (SNAP23A) and a shorter message (SNAP23B). The latter is the result of alternative splicing where exon 5 is joined to exon 7 and the skipping of exon 6; it thus lacks a region that is required for non-specific binding to plasma membranes. The two isoforms, expressed as fusion proteins with glutathione-S-transferase, interact in vitro with human syntaxin 6, thus retaining the specific protein interaction required for membrane fusion. Alterations in the SNAP23 gene might be involved in neurological and other diseases with defects in vesicle-membrane fusion processes that map to 15q15–21.