Female Germ Cell Aneuploidy and Embryo Death in Mice Lacking the Meiosis-Specific Protein SCP3

Li, Yuan; Liu, Jianguo; Hoja, Mary-Rose; Wilbertz, Johannes; Nordqvist, Katarina; Höög, Christer

doi:10.1126/science.1070594

Cited by 318 publications

(298 citation statements)

References 17 publications

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“…SYCP3 has clearly been shown to result in meiotic arrest when absent in mouse knockout models, [60][61][62] as a result of massive apoptotic cell death during meiotic prophase I due to SC formation failure. 62 Two azoospermic individuals (n519) with maturation arrest have been shown to have a 1-bp deletion (643delA) resulting in a premature stop codon and truncation of the C-terminal, coiled coil-forming region of the SYCP3 protein. 3 The resultant mutant protein demonstrated significantly reduced Meiotic recombination and male infertility MC Hann et al 214 interaction with the wild-type protein in vitro and interfered with SYCP3 fiber formation in cultured cells.…”

Section: Meiotic Recombinationmentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

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Section: Meiotic Recombinationmentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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“…The molecular correlates of non-disjunction in oocytes involve several mechanisms: chromosome condensation (29,30), pairing of homologous chromosomes (31,32), synaptonemal complex formation (33,34), recombination events (35,36), spindle formation (37,38) and meiotic checkpoints (39,40). Proteins actively functioning in these processes are essential for proper development, but their specific roles in oocyte maturation are difficult to unravel.…”

Section: Discussionmentioning

confidence: 99%

Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana

et al. 2007

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Introduction. Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized. Objective. To analyze and validate observations in a sample of Colombian trysonomy 21 cases. Materials and methods. Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21) child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Nonparametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations. Results. Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II) compared to those reported previously (70% meiosis I and 30% meiosis II). Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages. Conclusions. Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Nondisjunction frequencies between maternal meiotic stages need to be clarified in our population.Key words: Down syndrome; nondisjunction, genetic; trisomy; meiosis; recombination, genetic; microsatellite repeats.Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana Introducción. La trisomía 21 libre es responsable del 95% de los casos de síndrome de Down. La edad materna y la recombinación son los principales factores de riesgo asociados con la concepción de estos individuos. El origen materno de la trisomía ocurre en el 90% de los casos, mientras que los casos de origen paterno y mitótico comparten un 10%. Por otra parte, la recombinación como factor de riesgo para la trisomía 21 no ha sido comprobada completamente. Objetivo. Analizar y validar estas observaciones en una muestra colombiana de casos con trisomía 21 libre. Materiales y métodos. Se estudiaron 22 afectados con síndrome de Down (trisomía libre) y sus respectivos padres. Se usaron marcadores microsatélites de ADN para determinar el origen en los progenitores, el estado de no disyunción y los eventos de recombinación. Por COMUNICACIÓN BREVE 142 Biomédica 2007;27:141-8 Ramírez NJ, Belalcazar HM, Yunis JJ et al medio de pruebas no paramétricas se compararon los resultados con los reportados en la literatura. Se re...

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“…A subsequent detailed analysis showed the cause to be fetal death in utero that is caused by a chromosomal aberration. The frequency of fetal death in utero increased with the age of the mouse 15. Based on the hypothesis that the human SYCP3 gene might play an important role in human spermatogenesis, as in mice, the authors began an analysis of human genes.…”

Section: Culprit Genes That Have Been Identified In Autosomesmentioning

confidence: 99%

Human male infertility and its genetic causes

Miyamoto

Minase

Shin

et al. 2017

Reprod Medicine & Biology

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BackgroundInfertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.MethodsWe mainly describe the SYCP3 and PLK4 genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.ResultsUp to now, The 17 genes causing male infertility by their mutation have been reported in human.ConclusionsInfertility caused by nonobstructive azoospermia (NOA) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD‐TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD‐TESE procedures.

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Female Germ Cell Aneuploidy and Embryo Death in Mice Lacking the Meiosis-Specific Protein SCP3

Cited by 318 publications

References 17 publications

Meiotic recombination and male infertility: from basic science to clinical reality?

Meiotic recombination and male infertility: from basic science to clinical reality?

Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana

Human male infertility and its genetic causes

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