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

Lundwall, Åke LU ; Giwercman, Aleksander LU ; Ruhayel, Yasir LU ; Giwercman, Yvonne LU ; Lilja, Hans LU orcid ; Halldén, Christer LU and Malm, Johan LU (2003) In Molecular Human Reproduction 9(6). p.345-350
Abstract
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... (More)
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. (Less)
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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
transglutaminase, semen semenogelin I/II, allele, coagulum, truncated
in
Molecular Human Reproduction
volume
9
issue
6
pages
345 - 350
publisher
Oxford University Press
external identifiers
  • wos:000183575800005
  • pmid:12771235
  • scopus:0037972509
ISSN
1460-2407
DOI
10.1093/molehr/gag049
language
English
LU publication?
yes
id
f63d99bc-e406-4626-88f7-862a71147ec7 (old id 308433)
date added to LUP
2016-04-01 11:45:36
date last changed
2022-02-03 04:40:37
@article{f63d99bc-e406-4626-88f7-862a71147ec7,
  abstract     = {{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.}},
  author       = {{Lundwall, Åke and Giwercman, Aleksander and Ruhayel, Yasir and Giwercman, Yvonne and Lilja, Hans and Halldén, Christer and Malm, Johan}},
  issn         = {{1460-2407}},
  keywords     = {{transglutaminase; semen semenogelin I/II; allele; coagulum; truncated}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{345--350}},
  publisher    = {{Oxford University Press}},
  series       = {{Molecular Human Reproduction}},
  title        = {{A frequent allele codes for a truncated variant of semenogelin I, the major protein component of human semen coagulum}},
  url          = {{http://dx.doi.org/10.1093/molehr/gag049}},
  doi          = {{10.1093/molehr/gag049}},
  volume       = {{9}},
  year         = {{2003}},
}