Abstract:
:In humans, the most common chromosomal abnormality is aneuploidy. Because the majority of aneuploid conceptuses die during the early stages of embryonic development, an accurate estimate of the frequency of aneuploidy at conception can only be assessed by directly studying the gametes. The vast majority of aneuploidies arise de novo as a result of sporadic chromosome missegregation in paternal or maternal meiosis. In this review, we present the basic current knowledge about the incidence of aneuploidy in human spermatozoa in the general population and in patient populations where elevated levels of sperm aneuploidy are observed. These include infertile patients, patients with abnormal somatic karyotypes, and individuals exposed to certain environmental/lifestyle hazards. The clinical impact of increased levels of aneuploidy is discussed. We then focus on the non-disjunction mechanisms that cause aneuploidy during spermatogenesis and the factors that predispose to non-disjunction in male germ cells followed by an analysis of the sex differences in the incidence of gamete aneuploidy. Recent meiotic studies using multiplex-FISH on three fertile men have revealed that the frequency of conservative aneuploidy of metaphase II spermatocytes is similar to that observed in non-inseminated oocytes of young women. These findings suggest that the differences in the incidence of aneuploidy between spermatozoa and oocytes are not due to differences in chromosome segregation errors but rather to more effective checkpoint mechanisms in spermatogenesis than in oogenesis.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Templado C,Uroz L,Estop Adoi
10.1093/molehr/gat039subject
Has Abstractpub_date
2013-10-01 00:00:00pages
634-43issue
10eissn
1360-9947issn
1460-2407pii
gat039journal_volume
19pub_type
杂志文章,评审abstract::Fluorescent in situ hybridization (FISH) studies of human preimplantation embryos have demonstrated a high proportion of chromosomal mosaicism. To investigate the different timings and nature of chromosomal mosaicism, we developed single cell multiplex fluorescent (FL)-PCR to distinguish meiotic and mitotic cell divis...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah017
更新日期:2004-02-01 00:00:00
abstract::FSH is a pituitary gonadotropin that along with LH plays a key role in the regulation of gonadal function. The gonadotropic hormones are composed of two subunits, the common alpha subunit and the hormone-specific beta subunit, which determines the binding to specific receptors and induction of biological response. Unl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah198
更新日期:2005-08-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan063
更新日期:2008-12-01 00:00:00
abstract:STUDY QUESTION:Is it possible to identify original compounds that are able to enhance sperm motility from the venom of the scorpion Scorpio maurus palmatus? SUMMARY ANSWER:We identified a potent disulfide-rich peptide (DRP) of 73 amino acids that significantly improved the motility of fresh and frozen-thawed sperm in ...
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pub_type: 杂志文章
doi:10.1093/molehr/gaw075
更新日期:2017-02-10 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap072
更新日期:2009-12-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau071
更新日期:2015-01-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal029
更新日期:2006-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
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更新日期:1998-08-01 00:00:00
abstract::In the uterus, epithelial cell proliferation changes during the estrous cycle and pregnancy. Uncontrolled epithelial cell proliferation results in implantation failure and/or cancer development. Transforming growth factor-β (TGF-β) signaling is a fundamental regulator of diverse biological processes and is indispensab...
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pub_type: 杂志文章
doi:10.1093/molehr/gau033
更新日期:2014-08-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaaa070
更新日期:2020-12-10 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam007
更新日期:2007-05-01 00:00:00
abstract:STUDY QUESTION:Are there novel hyaladherins in human sperm? SUMMARY ANSWER:Zona pellucida-binding protein 2 (ZPBP2), containing a Link-like hyaluronic acid (HA)-binding domain, and several other proteins containing BX7B motifs, such as ADAM32 and Midkine, may be novel hyaladherins with HA-binding properties. WHAT IS ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax053
更新日期:2017-12-01 00:00:00
abstract::The aim of the present study was to investigate the potential role of Toll-like receptor 4 (TLR4) in lipopolysaccharide (LPS)-induced preterm delivery. Intraperitoneal injection of LPS in the presence or absence of previous TLR4 blockade was performed to establish a murine model of preterm delivery. The incidences of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap106
更新日期:2010-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau075
更新日期:2014-12-01 00:00:00
abstract::The clinical application of quantitative fluorescent polymerase chain reaction (QF-PCR) for rapid prenatal detection of chromosome aneuploidies has been limited in most studies to the detection of autosomal trisomies. Recently it has been shown that a newly identified highly polymorphic marker, termed X22, which maps ...
journal_title:Molecular human reproduction
pub_type: 临床试验,杂志文章
doi:10.1093/molehr/7.10.1001
更新日期:2001-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav028
更新日期:2015-08-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.11.815
更新日期:1996-11-01 00:00:00
abstract::The identification of polymorphisms in genes encoding proinflammatory cytokines that affect transcription or the secretion rate has opened new ways to understand the variation in responses to infection during pregnancy. In this study, human amniochorion carrying hyper-responsive alleles of tumour necrosis factor-alpha...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag076
更新日期:2003-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.6.531
更新日期:2002-06-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2015-02-01 00:00:00
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更新日期:2015-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.10.915
更新日期:2000-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.12.1165
更新日期:2000-12-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag024
更新日期:2003-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gaq079
更新日期:2010-12-01 00:00:00
abstract::Testis expressed gene 18 (Tex18) is a small gene with one exon of 240 bp, which is specifically expressed in male germ cells. The gene encodes for a protein of 80 amino acids with unknown domain. To investigate the function of (Tex18) gene, we generated mice with targeted disruption of the (Tex18) gene by homologous r...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal107
更新日期:2007-03-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.9.755
更新日期:1997-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.12.1053
更新日期:1997-12-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah092
更新日期:2004-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq096
更新日期:2011-04-01 00:00:00