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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 ; 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
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
2007-08-03 13:29:56
date last changed
2018-01-07 05:20:31
@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},
  keyword      = {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},
  volume       = {9},
  year         = {2003},
}