Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy

G. Saltini, M. C. Proverbio, G. Malferrari, L. Biagiotti, P. Boettcher, R. Dominici, E. Monferini, E. Lorenzini, M. Cattaneo, D. Antonello, P. S. Moore, I. Zamproni, M. Viscardi, G. Chiumello, I. Biunno

Research output: Contribution to journalArticle

Abstract

SEL1L, a human gene located on chromosome 14q24.3-q31, is highly expressed in adult pancreas. It is proximal to D14S67 (IDDM11) a proposed type I diabetes susceptibility locus. Considering the organ specific expression of SEL1L, a fundamental role of SEL1L in pancreatic growth can be hypothesized. While screening for mutations in young diabetic patients, in children affected by persistent hyperinsulinemic hypoglycemia of infancy (PHHI), in patients with non-functional endocrine tumours and in over 100 control subjects, we identified a novel polymorphism (D162G) residing on the fourth exon of the gene. This exon encodes for the fibronectin type II domain and the nucleotide change involves a highly conserved amino acid. The D162G polymorphism induces a major change in the amino acid composition producing a possible disruptive role in collagen binding.

Original languageEnglish
Pages (from-to)159-163
Number of pages5
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume554
Issue number1-2
DOIs
Publication statusPublished - Oct 4 2004

Keywords

  • Fibronectin type II domain
  • SEL1L
  • SNP

ASJC Scopus subject areas

  • Health, Toxicology and Mutagenesis
  • Molecular Biology

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    Saltini, G., Proverbio, M. C., Malferrari, G., Biagiotti, L., Boettcher, P., Dominici, R., Monferini, E., Lorenzini, E., Cattaneo, M., Antonello, D., Moore, P. S., Zamproni, I., Viscardi, M., Chiumello, G., & Biunno, I. (2004). Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 554(1-2), 159-163. https://doi.org/10.1016/j.mrfmmm.2004.04.007