Mutant cohesin in premature ovarian failure

S Caburet, VA Arboleda, E Llano… - … England Journal of …, 2014 - Mass Medical Soc
Premature ovarian failure is a major cause of female infertility. The genetic causes of this
disorder remain unknown in most patients. Using whole-exome sequence analysis of a …

STAG3 is a strong candidate gene for male infertility

E Llano, L Gomez-H, I García-Tuñón… - Human molecular …, 2014 - academic.oup.com
Oligo-and azoospermia are severe forms of male infertility. However, known genetic factors
account only for a small fraction of the cases. Recently, whole-exome sequencing in a large …

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency

A Heddar, P Dessen, D Flatters, M Misrahi - Molecular Genetics and …, 2019 - Springer
Primary ovarian insufficiency (POI) affects~ 1–3, 7% of women under forty and is a public
health problem. Most causes are unknown, but an increasing number of genetic causes …

Defective cohesin is associated with age-dependent misaligned chromosomes in oocytes

L Liu, DL Keefe - Reproductive biomedicine online, 2008 - Elsevier
Aneuploidy often results from chromosome misalignment at metaphases. Oocytes from
senescence-accelerated mice (SAM) exhibit increased chromosome misalignment with age …

Oocyte cohesin expression restricted to predictyate stages provides full fertility and prevents aneuploidy

E Revenkova, K Herrmann, C Adelfalk, R Jessberger - Current Biology, 2010 - cell.com
To ensure correct meiotic chromosome segregation, sister chromatid cohesion (SCC) needs
to be maintained from its establishment in prophase I oocytes before birth until continuation …

Age-related decrease of meiotic cohesins in human oocytes

M Tsutsumi, R Fujiwara, H Nishizawa, M Ito, H Kogo… - PloS one, 2014 - journals.plos.org
Aneuploidy in fetal chromosomes is one of the causes of pregnancy loss and of congenital
birth defects. It is known that the frequency of oocyte aneuploidy increases with the human …

Dynamics of cohesin proteins REC8, STAG3, SMC1β and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes

R Garcia-Cruz, MA Brieno, I Roig… - Human …, 2010 - academic.oup.com
BACKGROUND Sister chromatid cohesion is essential for ordered chromosome segregation
at mitosis and meiosis. This is carried out by cohesin complexes, comprising four proteins …

Meiosis-Specific Cohesin Component, Stag3 Is Essential for Maintaining Centromere Chromatid Cohesion, and Required for DNA Repair and Synapsis between …

J Hopkins, G Hwang, J Jacob, N Sapp, R Bedigian… - PLoS …, 2014 - journals.plos.org
Cohesins are important for chromosome structure and chromosome segregation during
mitosis and meiosis. Cohesins are composed of two structural maintenance of …

Cohesin in gametogenesis

F McNicoll, M Stevense, R Jessberger - Current topics in developmental …, 2013 - Elsevier
Sister chromatid cohesion depends on cohesin, a tripartite complex that forms ring structures
to hold sister chromatids together in mitosis and meiosis. Meiocytes feature a multiplicity of …

Cohesin‐SA1 deficiency drives aneuploidy and tumourigenesis in mice due to impaired replication of telomeres

S Remeseiro, A Cuadrado, M Carretero… - The EMBO …, 2012 - embopress.org
Cohesin is a protein complex originally identified for its role in sister chromatid cohesion,
although increasing evidence portrays it also as a major organizer of interphase chromatin …