Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia.

Abstract:

:Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. In this study, we identified a hitherto unreported microduplication in the AZFa region in a Japanese male individual. The 629,812-bp duplication contained 22 of 46 exons of USP9Y, encoding the putative fine tuner of spermatogenesis, together with all exons of 3 other genes/pseudogenes. The breakpoints of the duplication resided in the DNA/TcMar-Tigger repeat and nonrepeat sequences, respectively, and were associated with a 2-bp microhomology, but not with short nucleotide stretches. The breakpoint-flanking regions were not enriched with GC content, palindromes, or noncanonical DNA structures. Semen analysis of the individual revealed a normal sperm concentration and mildly reduced sperm motility. The paternal DNA sample of the individual was not available for genetic analysis. The results indicate that CNVs in AZF regions can be generated by microhomology-mediated break-induced replication in the absence of known rearrangement-inducing DNA features. AZFa-linked microduplications likely permit production of a normal amount of sperm, although the precise clinical consequences of these CNVs await further investigation.

journal_name

Cytogenet Genome Res

authors

Katsumi M,Ishikawa H,Tanaka Y,Saito K,Kobori Y,Okada H,Saito H,Nakabayashi K,Matsubara Y,Ogata T,Fukami M,Miyado M

doi

10.1159/000377649

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

285-9

issue

4

eissn

1424-8581

issn

1424-859X

pii

000377649

journal_volume

144

pub_type

杂志文章
  • Genomic signatures of chromosomal instability and osteosarcoma progression detected by high resolution array CGH and interphase FISH.

    abstract::Osteosarcoma (OS) is characterized by an unstable karyotype which typically has a heterogeneous pattern of complex chromosomal abnormalities. High-resolution array comparative genomic hybridization (CGH) in combination with interphase fluorescence in situ hybridization (FISH) analyses provides a complete description o...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000151310

    authors: Selvarajah S,Yoshimoto M,Ludkovski O,Park PC,Bayani J,Thorner P,Maire G,Squire JA,Zielenska M

    更新日期:2008-01-01 00:00:00

  • Long dsRNA and silent genes strike back:RNAi in mouse oocytes and early embryos.

    abstract::RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000078215

    authors: Svoboda P

    更新日期:2004-01-01 00:00:00

  • Contrasting rDNA evolution in lima bean (Phaseolus lunatus L.) and common bean (P. vulgaris L., Fabaceae).

    abstract::Phaseolus vulgaris has two 5S rDNA sites in chromosomes 6 and 10 and from two up to nine 45S rDNA sites depending on the accession. The presence of three 45S rDNA sites, in chromosomes 6, 9 and 10, is considered the ancestral state for the species. For P. lunatus, only one 5S and one 45S rDNA sites in distinct chromos...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000321677

    authors: Almeida C,Pedrosa-Harand A

    更新日期:2011-01-01 00:00:00

  • Involvement of the mitochondrial pathway in p53-independent apoptosis induced by p28GANK knockdown in Hep3B cells.

    abstract::It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000227831

    authors: Wang J,Wang XF,Zhang LG,Xie SY,Li ZL,Li YJ,Li HH,Jiao F

    更新日期:2009-01-01 00:00:00

  • Cloning, expression, and chromosomal localization of the mouse gene (Scgb3a1, alias Ugrp2) that encodes a member of the novel uteroglobin-related protein gene family.

    abstract::The mouse UGRP gene family consists of two genes, Ugrp1 and Ugrp2. In this study, the genomic structure and expression patterns of Ugrp2 and its alternative spliced form were characterized. The authentic Ugrp2 gene has three exons and two introns, similar to the Ugrp1 gene, which produces a secreted protein. The Ugrp2...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000064067

    authors: Niimi T,Copeland NG,Gilbert DJ,Jenkins NA,Srisodsai A,Zimonjic DB,Keck-Waggoner CL,Popescu NC,Kimura S

    更新日期:2002-01-01 00:00:00

  • Chromosome studies of European cyprinid fishes: cross-species painting reveals natural allotetraploid origin of a Carassius female with 206 chromosomes.

    abstract::A single female with 206 chromosomes and another 26 females with 156 chromosomes identified as Prussian carp, Carassius gibelio, and 5 individuals with 100 chromosomes identified as crucian carp, C. carassius, were sampled during field survey in one locality in the upper Elbe River. To identify the origin of females w...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000350689

    authors: Knytl M,Kalous L,Symonová R,Rylková K,Ráb P

    更新日期:2013-01-01 00:00:00

  • Aneuploidy and DNA fragmentation in sperm of carriers of a constitutional chromosomal abnormality.

    abstract::Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility h...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000323980

    authors: Perrin A,Basinko A,Douet-Guilbert N,Gueganic N,Le Bris MJ,Amice V,De Braekeleer M,Morel F

    更新日期:2011-01-01 00:00:00

  • U-HO1, a new cell line derived from a primary refractory classical Hodgkin lymphoma.

    abstract::The Hodgkin cell line U-HO1 was established from a malignant pleural effusion of a 23-year-old male patient during the end stage of refractory nodular sclerosing classical Hodgkin lymphoma (cHL). Since its establishment in 2005, U-HO1 has maintained stable characteristics in vitro and has a doubling time of about 4 da...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000112062

    authors: Mader A,Bruderlein S,Wegener S,Melzner I,Popov S,Muller-Hermelink HK,Barth TF,Viardot A,Moller P

    更新日期:2007-01-01 00:00:00

  • Meiotic Recombination in the Giraffe (G. reticulata).

    abstract::Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated gir...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000478684

    authors: Vozdova M,Fröhlich J,Kubickova S,Sebestova H,Rubes J

    更新日期:2017-01-01 00:00:00

  • Chromosome evolution in the lizard genus Gekko (Gekkonidae, Squamata, Reptilia) in the East Asian islands.

    abstract::The lizard genus Gekko consists of over 30 species distributed in Asia and Oceania. From the insular region of East Asia including Japan and Taiwan, 9 species (G. hokouensis, G. japonicus, G. shibatai, G. tawaensis, G. vertebralis,G. yakuensis, and 3 undescribed species) are currently recognized. We made karyological ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000303334

    authors: Shibaike Y,Takahashi Y,Arikura I,Iiizumi R,Kitakawa S,Sakai M,Imaoka C,Shiro H,Tanaka H,Akakubo N,Nakano M,Watanabe M,Ohne K,Kubota S,Kohno S,Ota H

    更新日期:2009-01-01 00:00:00

  • Meiotic studies of a 38,XY/39,XXY mosaic boar.

    abstract::Klinefelter's syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosi...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000321794

    authors: Pinton A,Barasc H,Raymond Letron I,Bordedebat M,Mary N,Massip K,Bonnet N,Calgaro A,Dudez AM,Feve K,Riquet J,Yerle M,Ducos A

    更新日期:2011-01-01 00:00:00

  • Heterologous Synapsis and Crossover Suppression in Heterozygotes for a Pericentric Inversion in the Zebra Finch.

    abstract::In the zebra finch, 2 alternative morphs regarding centromere position were described for chromosome 6. This polymorphism was interpreted to be the result of a pericentric inversion, but other causes of the centromere repositioning were not ruled out. We used immunofluorescence localization to examine the distribution...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000442656

    authors: del Priore L,Pigozzi MI

    更新日期:2015-01-01 00:00:00

  • Polyploidy and hybridization as main factors of speciation: complex reticulate evolution within the grass genus Helictochloa.

    abstract::To study the origin and evolution of naturally occurring polyploids, we performed phylogenetic analyses of nuclear ribosomal DNA spacers combined with molecular cytogenetics in 55 accessions of 27 taxa of the oat genus Helictochloa. A complex pattern of reticulate evolution was revealed with many diploid species and e...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000361002

    authors: Winterfeld G,Schneider J,Perner K,Röser M

    更新日期:2014-01-01 00:00:00

  • Karyotype Analysis of Four Blind Snake Species (Reptilia: Squamata: Scolecophidia) and Karyotypic Changes in Serpentes.

    abstract::The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000496554

    authors: Matsubara K,Kumazawa Y,Ota H,Nishida C,Matsuda Y

    更新日期:2019-01-01 00:00:00

  • Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.

    abstract::Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000442068

    authors: Riccardi F,Rivolta GF,Uliana V,Grati FR,La Starza R,Marcato L,Di Perna C,Quintavalle G,Garavelli L,Rosato S,Sammarelli G,Neri TM,Tagliaferri A,Martorana D

    更新日期:2015-01-01 00:00:00

  • Molecular and Cytogenetic Characterization of a Powdery Mildew-Resistant Wheat-Aegilops mutica Partial Amphiploid and Addition Line.

    abstract::Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000443625

    authors: Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

    更新日期:2015-01-01 00:00:00

  • Satellite DNA spatial localization and transcriptional activity in mouse embryonic E-14 and IOUD2 stem cells.

    abstract::The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000218132

    authors: Enukashvily NI,Malashicheva AB,Waisertreiger IS

    更新日期:2009-01-01 00:00:00

  • G2 chromatid damage and repair kinetics in normal human fibroblast cells exposed to low- or high-LET radiation.

    abstract::Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000077491

    authors: Kawata T,Ito H,Uno T,Saito M,Yamamoto S,Furusawa Y,Durante M,George K,Wu H,Cucinotta FA

    更新日期:2004-01-01 00:00:00

  • Mechanisms of the Evolutionary Chromosome Plasticity: Integrating the 'Centromere-from-Telomere' Hypothesis with Telomere Length Regulation.

    abstract::The 'centromere-from-telomere' hypothesis proposed by Villasante et al. [2007a] aims to explain the evolutionary origin of the eukaryotic chromosome. The hypothesis is based on the notion that the process of eukaryogenesis was initiated by adaptive responses of the symbiont eubacterium and its archaeal host to their n...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000447415

    authors: Slijepcevic P

    更新日期:2016-01-01 00:00:00

  • Histone H2AX phosphorylation is associated with most meiotic events in grasshopper.

    abstract::It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000100416

    authors: Cabrero J,Teruel M,Carmona FD,Camacho JP

    更新日期:2007-01-01 00:00:00

  • Classical and Molecular Cytogenetics of the Panther Genet Genetta maculata (Mammalia, Carnivora, Viverridae).

    abstract::Genets (Genetta) are a genus of African mammalian carnivorans with 14 currently recognized species, although taxonomic uncertainties remain, particularly regarding the number of species within the large-spotted genet complex. This study presents the first banded karyotype and molecular cytogenetic analysis of a geneti...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000450627

    authors: Matoso Silva R,Adega F,Kjöllerström HJ,Labuschagne K,Kotze A,Fernandes C,Chaves R,do Mar Oom M

    更新日期:2016-01-01 00:00:00

  • Mismatch repair proteins: key regulators of genetic recombination.

    abstract::Mismatch repair (MMR) systems are central to maintaining genome stability in prokaryotes and eukaryotes. MMR proteins play a fundamental role in avoiding mutations, primarily by removing misincorporation errors that occur during DNA replication. MMR proteins also act during genetic recombination in steps that include ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000080593

    authors: Surtees JA,Argueso JL,Alani E

    更新日期:2004-01-01 00:00:00

  • Polymorphisms of the chicken antiviral MX gene.

    abstract::The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000103200

    authors: Watanabe T

    更新日期:2007-01-01 00:00:00

  • Cytogenetic mapping of H1 histone and ribosomal RNA genes in hybrids between catfish species Pseudoplatystoma corruscans and Pseudoplatystoma reticulatum.

    abstract::A physical chromosome mapping of the H1 histone and 5S and 18S ribosomal RNA (rRNA) genes was performed in interspecific hybrids of Pseudoplatystoma corruscans and P. reticulatum. The results showed that 5S rRNA clusters were located in the terminal region of 2 chromosomes. H1 histone and 18S ribosomal genes were co-l...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000345299

    authors: Hashimoto DT,Ferguson-Smith MA,Rens W,Prado FD,Foresti F,Porto-Foresti F

    更新日期:2013-01-01 00:00:00

  • Distribution and stability of supernumerary microchromosomes in natural populations of the Amazon molly, Poecilia formosa.

    abstract::In animals, supernumerary chromosomes and their evolution have mostly been studied in sexual reproducing species. In the present study, for the first time, the natural distribution and stability of supernumerary microchromosomes were investigated in the unisexual fish species Poecilia formosa. Natural habitats through...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000079286

    authors: Lamatsch DK,Nanda I,Schlupp I,Epplen JT,Schmid M,Schartl M

    更新日期:2004-01-01 00:00:00

  • Extensive coloured identification of dog chromosomes to support karyotype studies: the colour code.

    abstract::The identification of individual dog chromosomes is problematic because the 38 pairs of autosomes are small and acrocentric. Here we describe the design and application of a FISH tool that enables definitive identification of each dog autosome in a normal karyotype, without relying on subjective interpretation of DAPI...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000098187

    authors: Courtay-Cahen C,Griffiths LA,Hudson R,Starkey M

    更新日期:2007-01-01 00:00:00

  • Chromosome Banding in Amphibia. XXXIII. Demonstration of 5-Methylcytosine-Rich Heterochromatin in Anura.

    abstract::An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The h...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000446141

    authors: Schmid M,Steinlein C

    更新日期:2016-01-01 00:00:00

  • The temporal and spatial pattern of histone H3 phosphorylation at serine 28 and serine 10 is similar in plants but differs between mono- and polycentric chromosomes.

    abstract::Immunolabeling using site-specific antibodies against phosphorylated histone H3 at serine 10 or serine 28 revealed in plants an almost similar temporal and spatial pattern of both post-translational modification sites at mitosis and meiosis. During the first meiotic division the entire chromosomes are highly H3 phosph...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000074175

    authors: Gernand D,Demidov D,Houben A

    更新日期:2003-01-01 00:00:00

  • Contrasting Rates of LINE-1 Amplification among New World Primates of the Atelidae Family.

    abstract::LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. Howeve...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000490481

    authors: Sookdeo A,Ruiz-García M,Schneider H,Boissinot S

    更新日期:2018-01-01 00:00:00

  • Coamplification of multiple regions of chromosome 2, including MYCN, in a single patchwork amplicon in cancer cell lines.

    abstract::Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000334349

    authors: Kitada K,Aida S,Aikawa S

    更新日期:2012-01-01 00:00:00