Synaptonemal complex

deCODE genetics: A sequence variant that increases risk of pregnancy loss

Retrieved on: 
Monday, January 29, 2024
Woman, Synaptonemal complex, Genetic distance, Biology, Genome-wide association study, Genetics, Meiosis, Risk, Pregnancy, Chromosome, Genome, AMGN

Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.

Key Points: 
  • Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
  • A low-frequency missense variant in the SYCE2 gene was found to increase the risk of pregnancy loss by 22%.
  • The association with pregnancy loss does not account for embryos lost in early gestation before pregnancy has been detected so the effect of the variant on pregnancy success may be underestimated.
  • The findings reported in this study demonstrate that a variant with a substantial effect on recombinations can be maintained in the population despite increasing the risk of pregnancy loss.

deCODE genetics: A sequence variant that increases risk of pregnancy loss

Retrieved on: 
Monday, January 29, 2024
Woman, Synaptonemal complex, Genetic distance, Biology, Genome-wide association study, Genetics, Meiosis, Risk, Pregnancy, Chromosome, Genome, AMGN

Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.

Key Points: 
  • Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
  • A low-frequency missense variant in the SYCE2 gene was found to increase the risk of pregnancy loss by 22%.
  • The association with pregnancy loss does not account for embryos lost in early gestation before pregnancy has been detected so the effect of the variant on pregnancy success may be underestimated.
  • The findings reported in this study demonstrate that a variant with a substantial effect on recombinations can be maintained in the population despite increasing the risk of pregnancy loss.

Why do some men not produce sperm? Stowers scientists collaborate to uncover one underlying reason for male infertility

Retrieved on: 
Friday, October 20, 2023
Dai, Meiosis, Gene editing, Sainsbury Wellcome Centre for Neural Circuits and Behaviour, Medical research, Stowers Institute for Medical Research, Mouse, United States Army Simulation and Training Technology Center, Life, Human, Vertebrate, University, Research, Protein, Male, Science Advances, Egg, Cell biology, Animal, Synaptonemal complex, Disease, Research fellow, Infertility, Chromosome, Birth control, Vaccine, Science

KANSAS CITY, Mo., Oct. 20, 2023 /PRNewswire/ -- Millions of couples worldwide experience infertility with half of the cases originating in men.

Key Points: 
  • KANSAS CITY, Mo., Oct. 20, 2023 /PRNewswire/ -- Millions of couples worldwide experience infertility with half of the cases originating in men.
  • In most sexually reproducing species, including humans, a critical protein structure resembling a lattice-like bridge needs to be built properly to produce sperm and egg cells.
  • Previous studies have examined many proteins comprising the synaptonemal complex, how they interact with each other, and have identified various mutations linked to male infertility.
  • Just a single mutation, predicted from the modeling experiments, was verified as the culprit of infertility in mice.