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A frequent allele codes for a truncated variant of semenogelin I, the major protein component of human semen coagulum

Author

Summary, in English

Human semen coagulum predominantly consists of high molecular mass complexes of the seminal vesicle secreted semenogelin I (SgI) and semenogelin II (SgII). Here we describe a previously unknown variant of the SgI gene that is present at an allele frequency of similar to3% in the Swedish population. It gives rise to a protein with a molecular mass of 43 kDa, SgI(43), which compared with the 50 kDa variant, SgI(50), is lacking a tandem repeat of 60 amino acid residues that was probably deleted by homologous recombination. In spite of the size difference, SgI(43) has many properties in common with SgI(50), such as a very high iso-electric point and susceptibility to proteolytic degradation by prostate-specific antigen. Heterozygous carriers of the SgI(43) allele neither show impaired fertility nor do they significantly differ from individuals homozygous for I SgI(50) with respect to sperm parameters such as semen volume, sperm count and fraction of motile spermatozoa.

Publishing year

2003

Language

English

Pages

345-350

Publication/Series

Molecular Human Reproduction

Volume

9

Issue

6

Document type

Journal article

Publisher

Oxford University Press

Topic

  • Obstetrics, Gynecology and Reproductive Medicine

Keywords

  • transglutaminase
  • semen semenogelin I/II
  • allele
  • coagulum
  • truncated

Status

Published

Research group

  • Reproductive medicine, Malmö
  • Molecular genetic reproductive medicine, Malmö
  • Clinical Chemistry, Malmö

ISBN/ISSN/Other

  • ISSN: 1460-2407