The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility.

Abstract:

:Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 and TTY2, which are candidate AZF genes. Four exceptional individuals who have transmitted a large AZFc deletion naturally to their infertile sons have, however, been described. In three cases, transmission was to an only son, but in the fourth case a Y chromosome, shown to be deleted for all copies of DAZ, was transmitted from a father to his four infertile sons. Here we present a second family of this latter type and demonstrate that an AZFc-deleted Y chromosome lacking not only DAZ, but also BPY2 and CDY1, has been transmitted from a father to his three infertile sons. Polymerase chain reaction (PCR) and Southern blot analyses revealed no difference in the size of the AZFc deletion in the father and his sons. We propose that the father carries rare alleles of autosomal or X-linked loci which suppress the infertility that is frequently associated with the absence of AZFc.

journal_name

Mol Hum Reprod

authors

Saut N,Terriou P,Navarro A,Lévy N,Mitchell MJ

doi

10.1093/molehr/6.9.789

subject

Has Abstract

pub_date

2000-09-01 00:00:00

pages

789-93

issue

9

eissn

1360-9947

issn

1460-2407

journal_volume

6

pub_type

杂志文章
  • The use of amplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos.

    abstract::Imprinted genes are characterized by expression of only one of the two alleles according to its inheritance from the mother or the father. This mono-allelic expression must arise from primary differential epigenetic modification of the parental alleles of the imprinted gene in the spermatozoon and the oocyte. Most of ...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/7.9.839

    authors: Salpekar A,Huntriss J,Bolton V,Monk M

    更新日期:2001-09-01 00:00:00

  • The maternal HLA-G 1597ΔC null mutation is associated with increased risk of pre-eclampsia and reduced HLA-G expression during pregnancy in African-American women.

    abstract::The non-classical major histocompatibility complex molecule, human leukocyte antigen (HLA)-G, is thought to contribute to maternal immune tolerance and successful placentation during pregnancy. Genetic polymorphisms in HLA-G are known to influence expression levels as well as the relative expression of individual prot...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gas041

    authors: Loisel DA,Billstrand C,Murray K,Patterson K,Chaiworapongsa T,Romero R,Ober C

    更新日期:2013-03-01 00:00:00

  • CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI.

    abstract::The androgen receptor (AR) gene is located on the X chromosome and contains a polymorphic CAG tract. CAG repeat expansions in the AR have been associated with male infertility and the neuromuscular disease, spinal bulbar muscular atrophy (SBMA). Based on Mendelian inheritance patterns, moderate CAG expansions in infer...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/6.9.861

    authors: Cram DS,Song B,McLachlan RI,Trounson AO

    更新日期:2000-09-01 00:00:00

  • Characterization and isolation of SOB2, a human sperm protein with a potential role in oocyte membrane binding.

    abstract::G12 monoclonal antibody (mAb), one of a library of constructed mAb directed against human sperm proteins, was found by immunoperoxidase staining to label the post-acrosomal and neck regions of fixed human cauda epididymal and ejaculated spermatozoa. Epithelium and fluid of caput epididymis were strongly labelled while...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/3.6.507

    authors: Lefèvre A,Martin Ruiz C,Chokomian S,Duquenne C,Finaz C

    更新日期:1997-06-01 00:00:00

  • Nuclear and cytoplasmic determinants involved in the regulation of mammalian oocyte maturation.

    abstract::The requisite endpoint of mammalian oocyte maturation, whether in vivo or in vitro, is a metaphase II oocyte which is able to be fertilized and which can eventually support normal embryonic development. Oocytes which have been matured in vivo basically fulfill these criteria. On the other hand, a completely different ...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章,评审

    doi:10.1093/molehr/4.1.41

    authors: Fulka J Jr,First NL,Moor RM

    更新日期:1998-01-01 00:00:00

  • hCG activates Epac-Erk1/2 signaling regulating Progesterone Receptor expression and function in human endometrial stromal cells.

    abstract:STUDY QUESTION:How does hCG signal in human endometrial stromal cells (ESCs) and what is its role in regulating ESC function? SUMMARY ANSWER:hCG signaling in ESCs activates the extracellular signal-regulated protein kinases 1 and 2 (Erk1/2) pathway through exchange protein activated by cyclic AMP (cAMP) (Epac) and tra...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gax015

    authors: Tapia-Pizarro A,Archiles S,Argandoña F,Valencia C,Zavaleta K,Cecilia Johnson M,González-Ramos R,Devoto L

    更新日期:2017-06-01 00:00:00

  • Identification of a Gly862 to Ser substitution in the type I collagen gene from a single spermatozoon.

    abstract::Individual spermatozoa from the father of two affected infants with osteogenesis imperfecta were separated by dilution and micromanipulation. A segment of the type I collagen gene containing the mutant region was amplified by nested polymerase chain reaction and sequenced. Among 40 individual spermatozoa, 15 specimens...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/2.2.131

    authors: Iida T,Suzumori K,Ikuta K,Tanemura M,Yagami Y,Okamoto T,Hata A

    更新日期:1996-02-01 00:00:00

  • Dehydroascorbic acid taken up by glucose transporters stimulates estradiol production through inhibition of JNK/c-Jun/AP1 signaling in JAR cells.

    abstract::We have previously demonstrated that the reduced form of vitamin C (l-ascorbic acid, AA) is able to induce the production of both steroid and peptide hormones in human choriocarcinoma cells. Here, we attempted to investigate the role and underlying mechanism of the oxidized form of vitamin C, dehydroascorbic acid (DHA...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gau036

    authors: Wang Y,Tang C,Wu M,Pan Y,Ruan H,Chen L,Yao H,Zhu H,Wu X

    更新日期:2014-08-01 00:00:00

  • Reprogramming with defined factors: from induced pluripotency to induced transdifferentiation.

    abstract::Ever since work on pluripotency induction was originally published, reporting the reprogramming of somatic cells to induced pluripotent stem cells (iPS cells) by the ectopic expression of the four transcription factors Oct4, Sox2, Klf4 and c-Myc, high expectations regarding their potential use for regenerative medicin...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章,评审

    doi:10.1093/molehr/gaq059

    authors: Masip M,Veiga A,Izpisúa Belmonte JC,Simón C

    更新日期:2010-11-01 00:00:00

  • APEX/Ref-1 (apurinic/apyrimidic endonuclease DNA-repair gene) expression in human and ascidian (Ciona intestinalis) gametes and embryos.

    abstract::In recent years, the impact of sperm DNA damage on fertility has become an important issue. The different technologies developed to check sperm DNA fragmentation lead to the same conclusion: DNA damage negatively impacts upon reproductive processes. Oocyte DNA repair capacity is one of the cues to understanding embryo...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gam038

    authors: El-Mouatassim S,Bilotto S,Russo GL,Tosti E,Menezo Y

    更新日期:2007-08-01 00:00:00

  • Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3).

    abstract::We report here the molecular cloning and characterization of a novel human actin capping protein alpha3 (cpalpha3) cDNA, an orthologue of the mouse male germ cell-specific cpalpha3, and the organization of the human cpalpha3 genomic structure. The entire coding region of the human cpalpha3 cDNA showed 82.1% similarity...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/8.6.531

    authors: Miyagawa Y,Tanaka H,Iguchi N,Kitamura K,Nakamura Y,Takahashi T,Matsumiya K,Okuyama A,Nishimune Y

    更新日期:2002-06-01 00:00:00

  • The role of ryanodine-sensitive Ca2+ stores in the Ca2+ oscillation machine of human oocytes.

    abstract::This study was undertaken to localize ryanodine-sensitive Ca2+ stores in human oocytes and to evaluate their role in the Ca2+ oscillations responsible for oocyte activation at fertilization. The addition of ryanodine provoked a Ca2+ discharge from stores localized throughout the ooplasm with the exception of the corti...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/2.4.265

    authors: Sousa M,Barros A,Tesarik J

    更新日期:1996-04-01 00:00:00

  • Rescue of failed oocyte activation after ICSI in a mouse model of male factor infertility by recombinant phospholipase Cζ.

    abstract::Artificial oocyte activation to overcome failed fertilization after intracytoplasmic sperm injection (ICSI) in human oocytes typically employs Ca(2+) ionophores to produce a single cytosolic Ca(2+) increase. In contrast, recombinant phospholipase Czeta (PLCζ) causes Ca(2+) oscillations indistinguishable from those occ...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gav042

    authors: Sanusi R,Yu Y,Nomikos M,Lai FA,Swann K

    更新日期:2015-10-01 00:00:00

  • Regulation of placental monocyte chemotactic and activating factor during pregnancy and chorioamnionitis.

    abstract::A number of placental cytokines participate in the feto-maternal defence mechanism. Monocyte chemotactic and activating factor (MCAF) is one of these chemokines. We investigated the pattern of placental MCAF production, the localization of MCAF-producing cells in the placenta, and alterations in its expression in chor...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/4.4.393

    authors: Shimoya K,Matsuzaki N,Sawai K,Saji F,Murata Y,Yasumoto K,Su S,Mukaida N,Matsushima K

    更新日期:1998-04-01 00:00:00

  • In-vitro secretion of proinflammatory cytokines by human amniochorion carrying hyper-responsive gene polymorphisms of tumour necrosis factor-alpha and interleukin-1beta.

    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

    authors: Hernandez-Guerrero C,Monzon-Bordonaba F,Jimenez-Zamudio L,Ahued-Ahued R,Arechavaleta-Velasco F,Strauss JF 3rd,Vadillo-Ortega F

    更新日期:2003-10-01 00:00:00

  • A molecular evaluation of germ cell death induced by etoposide in pubertal rat testes.

    abstract::Etoposide is widely used in the treatment of patients with testicular cancer. The mechanism underlying apoptosis induction in cancer cells has been studied in different cell types, but it is not known whether the same factors participate in viable germ cells undergoing programmed cell death. Since testicular cancer pr...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gap024

    authors: Ortiz RJ,Lizama C,Codelia VA,Moreno RD

    更新日期:2009-06-01 00:00:00

  • Induction of the human sperm acrosome reaction with mannose-containing neoglycoprotein ligands.

    abstract::In the interest of classifying cases of male factor infertility, we have paid particular attention to the sugar ligand binding properties of the human sperm surface and the functional capacity of the acrosome for exocytosis--key parameters for assessing sperm fertilizing ability. Zona recognition and binding involve t...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/3.10.827

    authors: Benoff S,Hurley IR,Mandel FS,Cooper GW,Hershlag A

    更新日期:1997-10-01 00:00:00

  • Differential cell death decisions in the testis: evidence for an exclusive window of ferroptosis in round spermatids.

    abstract::Oxidative stress is a major aetiology in many pathologies, including that of male infertility. Recent evidence in somatic cells has linked oxidative stress to the induction of a novel cell death modality termed ferroptosis. However, the induction of this iron-regulated, caspase-independent cell death pathway has never...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gaz015

    authors: Bromfield EG,Walters JLH,Cafe SL,Bernstein IR,Stanger SJ,Anderson AL,Aitken RJ,McLaughlin EA,Dun MD,Gadella BM,Nixon B

    更新日期:2019-05-01 00:00:00

  • Apoptotic gene expression in potentially fertile and subfertile men.

    abstract::Human sperm contain similar amounts of protamine-1 (P1) and protamine-2 (P2). Although an aberrant protamine ratio have been observed in subfertile men, functional evidence is provided by protamine knockout mice exhibiting male infertility. As sperm DNA integrity is known to be linked with DNA fragmentation and apopto...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gar011

    authors: Cavalcanti MC,Steilmann C,Failing K,Bergmann M,Kliesch S,Weidner W,Steger K

    更新日期:2011-07-01 00:00:00

  • High concentrations of the vascular endothelial growth factor and interleukin-8 in ovarian endometriomata.

    abstract::Patients with endometriosis are characterized by the ability of the endometrium to implant and by the peritoneal response to the tissue; angiogenic factors may play a significant role in the aetiology of endometriosis supporting the implantation of ectopic endometrial cells. Vascular endothelial growth factor (VEGF) i...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/6.1.50

    authors: Fasciani A,D'Ambrogio G,Bocci G,Monti M,Genazzani AR,Artini PG

    更新日期:2000-01-01 00:00:00

  • Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium.

    abstract::The etiology and pathogenesis of endometriosis are complex with both genetic and environmental factors contributing to disease risk. Genome-wide association studies (GWAS) have identified multiple signals in the estrogen receptor 1 (ESR1) region associated with endometriosis and other reproductive traits and diseases....

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gaaa082

    authors: Marla S,Mortlock S,Houshdaran S,Fung J,McKinnon B,Holdsworth-Carson SJ,Girling JE,Rogers PAW,Giudice LC,Montgomery GW

    更新日期:2021-01-22 00:00:00

  • Patterns of expression of sperm flagellar genes: early expression of genes encoding axonemal proteins during the spermatogenic cycle and shared features of promoters of genes encoding central apparatus proteins.

    abstract::Sperm are motile cells. Thus, a significant component of the spermatogenic cycle is devoted to the formation of flagellum, a process that must be coordinated to insure proper construction. To document the temporal pattern of flagellar gene expression, we employed real-time PCR to assess changes in accumulation of a co...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gah163

    authors: Horowitz E,Zhang Z,Jones BH,Moss SB,Ho C,Wood JR,Wang X,Sammel MD,Strauss JF 3rd

    更新日期:2005-04-01 00:00:00

  • Hypermethylation of the HLA-G promoter is associated with preeclampsia.

    abstract::Preeclampsia (PE) is a severe pregnancy-induced disorder characterized by hypertension and proteinuria and a leading cause of perinatal maternal-fetal mortality and morbidity in developing countries. Dysregulated human leukocyte antigen (HLA)-G was found in placentas as well as in maternal sera from PE patients; howev...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gav037

    authors: Tang Y,Liu H,Li H,Peng T,Gu W,Li X

    更新日期:2015-09-01 00:00:00

  • Transcriptome analysis of rhesus monkey failed-to-mature oocytes: deficiencies in transcriptional regulation and cytoplasmic maturation of the oocyte mRNA population.

    abstract:STUDY QUESTION:Which different pathways and functions are altered in rhesus monkey oocytes that fail to mature after an ovulatory stimulus? SUMMARY ANSWER:Failed to mature (FTM) oocytes complete a large portion of the transition in transcriptome composition associated with normal maturation, but also manifest numerous...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gay032

    authors: Ruebel ML,Schall PZ,Midic U,Vincent KA,Goheen B,VandeVoort CA,Latham KE

    更新日期:2018-10-01 00:00:00

  • Effects of tumour necrosis factor-alpha, interleukin-1 alpha, macrophage colony stimulating factor and transforming growth factor beta on trophoblastic matrix metalloproteinases.

    abstract::The aim of this study was to determine the effects of tumour necrosis factor alpha (TNF), interleukin-1 alpha (IL-1alpha), macrophage colony-stimulating factor (MCSF) and transforming growth factor beta (TGFbeta) on the secretion of matrix metalloproteinases (MMP), human chorionic gonadotrophin (HCG) and fetal fibrone...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/5.3.252

    authors: Meisser A,Chardonnens D,Campana A,Bischof P

    更新日期:1999-03-01 00:00:00

  • Expression of endothelial and inducible nitric oxide synthase in non-pregnant and decidualized human endometrium.

    abstract::Immunocytochemistry was used to localize endothelial (eNOS) and inducible (iNOS) nitric oxide synthase in human uterine tissues collected at various stages of the menstrual cycle, after exposure to exogenous progestagens, and in early pregnancy. Endothelial NOS-like immunoreactivity was detected in all specimens in en...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/3.1.69

    authors: Telfer JF,Irvine GA,Kohnen G,Campbell S,Cameron IT

    更新日期:1997-01-01 00:00:00

  • Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility.

    abstract::In male mice heterozygous for a null apolipoprotein B (apoB), allele infertility was noticed. These data led us to investigate a possible role of APOB gene polymorphism and male infertility in humans. In this case-control study, we searched for an association between the insertion/deletion (I/D) polymorphism of the AP...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gal088

    authors: Peterlin B,Zorn B,Volk M,Kunej T

    更新日期:2006-12-01 00:00:00

  • Sperm nitric oxide and motility: the effects of nitric oxide synthase stimulation and inhibition.

    abstract::Nitric oxide (NO) is synthesized from L-arginine by a family of enzymes known as the nitric oxide synthases (NOS). We have recently shown a NOS similar to constitutive brain NOS (bNOS) and endothelial NOS (ecNOS) to be present in spermatozoa. The aim of this study is to investigate NO production by human spermatozoa a...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/3.9.755

    authors: Donnelly ET,Lewis SE,Thompson W,Chakravarthy U

    更新日期:1997-09-01 00:00:00

  • Gene expression and tissue concentrations of IGF-I in human myometrium and fibroids under different hormonal conditions.

    abstract::The expression of insulin-like growth factor-I (IGF-I) was measured at the mRNA and protein level in myometrium and fibroids from women with and without preoperative treatment with a gonadotrophin-releasing hormone (GnRH) agonist for 3 months, from post-menopausal women, from pregnant women and in myometrium from wome...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/6.10.915

    authors: Englund K,Lindblom B,Carlström K,Gustavsson I,Sjöblom P,Blanck A

    更新日期:2000-10-01 00:00:00

  • In-vivo gene transfer induces transgene expression in cells and secretions of the mouse cauda epididymis.

    abstract::Mouse cauda epididymis were in-vivo transfected using the lipid FuGENE 6 as gene vector. Two gene constructions were employed: the p-GeneGRIP which codifies for the Green Fluorescent Protein (GFP) and the pSEAP-control that expresses an alkaline phosphatase as a secretion. Transfection was detected by fluorescence and...

    journal_title:Molecular human reproduction

    pub_type: 杂志文章

    doi:10.1093/molehr/gap026

    authors: Esponda P,Carballada R

    更新日期:2009-06-01 00:00:00