The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

Paolo Gasparini, Anna Grifa, Salvatore Savasta, Ilaria Merlo, Luigi Bisceglia, Angela Totaro, Leopoldo Zelante

Research output: Contribution to journalArticlepeer-review

Abstract

The product of the human motilin gene (MLN) has an important role in regulating gastrointestinal motility. The precise chromosomal localisation and expression of this gene are still unresolved. Here, we report a detailed study assigning MLN to 6p21.3; MLN is tightly linked to the HLA-DQalpha locus. Moreover, MLN expression has been evaluated in a large series of tissues. Positive signals have been obtained for brain, bronchi and a gastrointestinal malignancy. Direct sequencing exon by exon of the codifying region, intron/exon boundaries and promoter has allowed the identification of three DNA polymorphisms, one of which corresponds to a common protein variant. The chromosomal localisation of MLN, and its expression in broncoepithelial cells suggests that this gene is involved in immotile-cilia syndrome (ICS) disease. Sequence and segregation analysis of the MLN gene carried out in two families, in which the disease locus was previously assigned to 6p21.3, exclude MLN as a candidate gene for the HLA-associated form of ICS.

Original languageEnglish
Pages (from-to)671-674
Number of pages4
JournalHuman Genetics
Volume94
Issue number6
DOIs
Publication statusPublished - Dec 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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