The subcortical maternal complex: emerging roles and novel perspectives

Novel pathogenic variants in NLRP7 , NLRP5 , and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

(2021) Maryam Rezaei et al.   CLINICAL GENETICS

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

(2020) Miriam Elbracht et al.   HUMAN REPRODUCTION UPDATE

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations

(2020) Jing Lin et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family

(2020) Yao Xu et al.   CLINICAL GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

Involvement of Nlrp9a/b/c in mouse preimplantation development

(2020) Satoko Kanzaki et al.   REPRODUCTION

Subcortical maternal complex (SCMC) expression during folliculogenesis is affected by oocyte donor age in sheep

(2020) D. Bebbere et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

(2020) Dandan Bai et al.   Journal of Genetics and Genomics

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

(2020) Anshuman Sewda et al.   PLoS One

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest

(2020) Wei Zheng et al.   CLINICAL GENETICS

A new NLRP5 mutation causes female infertility and total fertilization failure

(2020) Mingzhao Li et al.   GYNECOLOGICAL ENDOCRINOLOGY

Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans

(2020) Qian-Qian Sha et al.   Nature Communications

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

(2020) Maria Vittoria Cubellis et al.   Clinical Epigenetics

Five multicopy gene family genes expressed during the maternal-to-zygotic transition are not essential for mouse development

(2020) Mizuki Wakabayashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

(2019) Jian Mu et al.   JOURNAL OF MEDICAL GENETICS

A story of birth and death: mRNA translation and clearance at the onset of maternal-to-zygotic transition in mammals†

(2019) Qian-Qian Sha et al.   BIOLOGY OF REPRODUCTION

Anchoring cortical granules in the cortex ensures trafficking to the plasma membrane for post-fertilization exocytosis

(2019) Edgar-John Vogt et al.   Nature Communications

The subcortical maternal complex protein Nlrp4f is involved in cytoplasmic lattice formation and organelle distribution

(2019) Dandan Qin et al.   DEVELOPMENT

Chromosome errors in human eggs shape natural fertility over reproductive life span

(2019) Jennifer R. Gruhn et al.   SCIENCE

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

(2019) Wei Zheng et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

ZAR1 and ZAR2 are required for oocyte meiotic maturation by regulating the maternal transcriptome and mRNA translational activation

(2019) Yan Rong et al.   NUCLEIC ACIDS RESEARCH

KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells

(2019) Weidao Zhang et al.   PLOS BIOLOGY

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

(2019) Angela Sparago et al.   Clinical Epigenetics

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

(2018) JianHua Qian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Terminal Uridylyltransferases Execute Programmed Clearance of Maternal Transcriptome in Vertebrate Embryos

(2018) Hyeshik Chang et al.   MOLECULAR CELL

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

CNOT6L couples the selective degradation of maternal transcripts to meiotic cell cycle progression in mouse oocyte

(2018) Qian‐Qian Sha et al.   EMBO JOURNAL

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

(2017) Lukas Soellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

mRNA 3′ uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome

(2017) Marcos Morgan et al.   NATURE

Actin protects mammalian eggs against chromosome segregation errors

(2017) Binyam Mogessie et al.   SCIENCE

A Maternal Functional Module in the Mammalian Oocyte-To-Embryo Transition

(2017) Xukun Lu et al.   TRENDS IN MOLECULAR MEDICINE

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

(2017) Sangeetha Mahadevan et al.   Scientific Reports

Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro

(2017) Christian S. Ottolini et al.   Scientific Reports

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices

(2016) Xiaoqiu Liu et al.   CELL CYCLE

Maternal DNA Methylation Regulates Early Trophoblast Development

(2016) Miguel R. Branco et al.   DEVELOPMENTAL CELL

The subcortical maternal complex: multiple functions for one biological structure?

(2016) D. Bebbere et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Decrease in expression of maternal effect geneMateris associated with maternal ageing in mice

(2016) Yong-qing Lu et al.   MOLECULAR HUMAN REPRODUCTION

BTG4 is a meiotic cell cycle–coupled maternal-zygotic-transition licensing factor in oocytes

(2016) Chao Yu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Biochemical Evolution of Protein Complexes

(2016) Todd M. Greco et al.   TRENDS IN BIOCHEMICAL SCIENCES

Two pathways regulate cortical granule translocation to prevent polyspermy in mouse oocytes

(2016) Liam P. Cheeseman et al.   Nature Communications

BTG4 is a meiotic cell cycle–coupled maternal-zygotic-transition licensing factor in oocytes

(2016) Chao Yu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Maternal control of early embryogenesis in mammals

(2015) Kun Zhang et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

(2015) Thomas Eggermann et al.   Clinical Epigenetics

Transducin-Like Enhancer of Split-6 (TLE6) Is a Substrate of Protein Kinase A Activity During Mouse Oocyte Maturation1

(2014) Francesca E. Duncan et al.   BIOLOGY OF REPRODUCTION

Expression of maternally derived KHDC3, NLRP5, OOEP and TLE6is associated with oocyte developmental competence in the ovine species

(2014) Daniela Bebbere et al.   BMC DEVELOPMENTAL BIOLOGY

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton

(2014) Elie Akoury et al.   HUMAN REPRODUCTION

Identification of a human subcortical maternal complex

(2014) K. Zhu et al.   MOLECULAR HUMAN REPRODUCTION

The role of genomic imprinting in biology and disease: an expanding view

(2014) Jo Peters   NATURE REVIEWS GENETICS

The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics

(2014) Xing-Jiang Yu et al.   Nature Communications

The role of MATER in endoplasmic reticulum distribution and calcium homeostasis in mouse oocytes

(2013) Boram Kim et al.   DEVELOPMENTAL BIOLOGY

The p.L750V mutation in theNLRP7gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss

(2013) Higinio Estrada et al.   PRENATAL DIAGNOSIS

NLRP5 Mediates Mitochondrial Function in Mouse Oocytes and Embryos1

(2012) Roxanne Fernandes et al.   BIOLOGY OF REPRODUCTION

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

(2012) Ramesh Reddy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcript clearance during the maternal-to-zygotic transition

(2011) Claudia B Walser et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

(2011) JianHua Qian et al.   MOLECULAR HUMAN REPRODUCTION

Evidence that Weakened Centromere Cohesion Is a Leading Cause of Age-Related Aneuploidy in Oocytes

(2010) Teresa Chiang et al.   CURRENT BIOLOGY

Age-Related Meiotic Segregation Errors in Mammalian Oocytes Are Preceded by Depletion of Cohesin and Sgo2

(2010) Lisa Martine Lister et al.   CURRENT BIOLOGY

Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition

(2010) Fumi Tashiro et al.   GENES TO CELLS

Potential Role for MATER in Cytoplasmic Lattice Formation in Murine Oocytes

(2010) Boram Kim et al.   PLoS One

Evolution and functional divergence of NLRP genes in mammalian reproductive systems

(2009) Xin Tian et al.   BMC EVOLUTIONARY BIOLOGY

Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis

(2009) P. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A putative protein structurally related to zygote arrest 1 (Zar1), Zar1-like, is encoded by a novel gene conserved in the vertebrate lineage

(2008) Lorenzo Sangiorgio et al.   COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY B-BIOCHEMISTRY & MOLECULAR BIOLOGY

Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

(2008) P. Yurttas et al.   DEVELOPMENT

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2008) Catherine Deveault et al.   HUMAN MOLECULAR GENETICS