Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
Infertility can also result from fertilization failure, either due to oocyte maturation arrest and
the inability to produce a haploid zygote or to a defective zona pellucida… above mouse genes …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - … and practice of medical genetics …, 2022 - Elsevier
… with male infertility and often related to the mutation of the … is pushed through the zona
pellucida and the oolemma into the … With the advent of modern molecular genetics including …

ZP4 confers structural properties to the zona pellucida essential for embryo development

I Lamas-Toranzo, N Fonseca Balvis… - Elife, 2019 - elifesciences.org
… Herein, we report that ZP4 ablation impairs fertility in female … lacking a zona pellucida and
infertility in female mice. PNAS … Novel mutations in ZP1, ZP2, and ZP3 cause female infertility

Mutation of a conserved hydrophobic patch prevents incorporation of ZP3 into the zona pellucida surrounding mouse eggs

M Zhao, L Gold, H Dorward, L Liang… - Molecular and …, 2003 - Taylor & Francis
… The absence of MutB ZP3-EGFP incorporation into the zona pellucida of transgenic mice
suggested that the mutation resulted either in improper trafficking to the cell surface or failed …

The power of mouse genetics to study spermatogenesis

AN Yatsenko, N Iwamori, T Iwamori… - Journal of …, 2010 - Wiley Online Library
… Thus, we anticipate that future genetic investigations will focus on infertile men with a … to
penetrate the zona pellucida. Further studies of mutant Zpbp2 mice demonstrated that aberrant …

Male infertility caused by spermiogenic defects: lessons from gene knockouts

W Yan - Molecular and cellular endocrinology, 2009 - Elsevier
… released to dissolve zona pellucida proteins during fertilization. … Male mice lacking SPAG6
are infertile because their sperm … sperm despite the fact that mutant sperm are misshapen and/…

Structure of zona pellucida module proteins

M Bokhove, L Jovine - Current topics in developmental biology, 2018 - Elsevier
… with different biological functions, whose mutations are linked to severe human diseases. …
-N moiety is highly similar to that of mouse, this section will discuss other ZP-C structures …

Molecular genetic of human male infertility: from genes to new therapeutic perspectives

PH Vogt - Current pharmaceutical design, 2004 - ingentaconnect.com
… genes known with mutations causing male infertility (AR; AZF … human male fertility genes
where mouse homologues exist … to penetrate the zona pellucida, causing infertility. Type II has …

Genome transfer for the prevention of female infertility caused by maternal gene mutation

D Bai, J Sun, Y Jia, J Yin, Y Zhang, Y Li, R Gao… - Journal of genetics and …, 2020 - Elsevier
mice to explore effective approaches and contents of intervention for individuals carrying
mutations of female infertility … then gently injected under the zona pellucida of the enucleated …

A genomics approach to females with infertility and recurrent pregnancy loss

S Maddirevula, K Awartani, S Coskun, LF AlNaim… - Human genetics, 2020 - Springer
… targeting the zona pellucida (Nishimura et al. 2019). … whose infertility phenotype resembles
that of Pabpc1l −/− mouse. … genes we found mutated in women with infertility in this study (…