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Molecular cloning of human intestinal mucin cDNAs. Sequence analysis and evidence for genetic polymorphism

J R Gum1, J C Byrd, J W Hicks

  • 1Gastrointestinal Research Laboratory (151M2), Veterans Administration Medical Center, San Francisco, California 94121.

Insights

Researchers identified novel human small intestine mucin cDNAs (SMUC 40-42) encoding a proline- and threonine-rich protein. These findings are crucial for understanding abnormal mucins in various human diseases.

Area of Science:

  • Molecular Biology
  • Gastroenterology
  • Biochemistry

Background:

  • Mucins are high molecular weight glycoproteins crucial for epithelial barrier function.
  • Abnormal mucin expression and structure are associated with various gastrointestinal diseases, including cancer.
  • Understanding the genetic basis of mucin production is vital for disease diagnosis and treatment.

Purpose of the Study:

  • To isolate and characterize cDNAs encoding human small intestine mucin.
  • To investigate the expression patterns of intestinal mucin genes.
  • To explore the potential role of mucin gene variations in human diseases.

Main Methods:

  • Screening of a human small intestine lambda gt11 cDNA library using antisera against deglycosylated mucin.
  • Isolation and characterization of three cDNAs (SMUC 40-42) containing tandem repeats.
  • RNA and DNA blot analyses to assess gene expression and identify polymorphisms.
  • In vitro translation to determine peptide size and immunoprecipitation.

Main Results:

  • Three cDNAs (SMUC 40-42) encoding a threonine- and proline-rich protein (PTTTPITTTTTVTPTPTPTGTQT) were isolated.
  • SMUC 41 hybridized to large, polydisperse RNA bands (~7,600 bases) in small intestine, colon, and colon cancer tissues.
  • In vitro translation produced a 162,000-dalton peptide recognized by anti-mucin antibodies.
  • DNA blot analysis revealed restriction fragment length polymorphisms in the intestinal mucin gene.

Conclusions:

  • Novel cDNAs for human small intestine mucin have been identified.
  • The identified mucin gene is expressed in the small intestine, colon, and colon cancer tissues.
  • The presence of polymorphisms suggests genetic variations in intestinal mucin that may be relevant to human diseases.

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