A double-stranded RNA binding protein required for activation of repressed messages in mammalian germ cells.

Abstract:

:Chromatin packaging in mammalian spermatozoa requires an ordered replacement of the somatic histones by two classes of spermatid-specific basic proteins, the transition proteins and the protamines. Temporal expression of transition proteins and protamines during spermatid differentiation is under translational control, and premature translation of protamine 1 leads to precocious nuclear condensation and sterility. We have previously suggested that the double-stranded (ds) RNA binding protein Prbp (encoded by the gene Tarbp2) functions as a translational regulator during mouse spermatogenesis. Here we show that Prbp is required for proper translational activation of the mRNAs encoding the protamines. We generated mice that carry a targeted disruption of Tarbp2 and determined that they were sterile and severely oligospermic. Using immunohistological analysis, we determined that the endogenous Prm2 mRNA and a reporter mRNA carrying protamine 1 translational-control elements were translated in a mosaic pattern. We showed that failure to synthesize the protamines resulted in delayed replacement of the transition proteins and subsequent failure of spermiation. The timing of Prbp expression suggests that it may function as a chaperone in the assembly of specific translationally regulated ribonucleoprotein particles.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Zhong J,Peters AH,Lee K,Braun RE

doi

10.1038/9684

keywords:

subject

Has Abstract

pub_date

1999-06-01 00:00:00

pages

171-4

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

22

pub_type

杂志文章
  • Quantifying influenza virus diversity and transmission in humans.

    abstract::Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3479

    authors: Poon LL,Song T,Rosenfeld R,Lin X,Rogers MB,Zhou B,Sebra R,Halpin RA,Guan Y,Twaddle A,DePasse JV,Stockwell TB,Wentworth DE,Holmes EC,Greenbaum B,Peiris JS,Cowling BJ,Ghedin E

    更新日期:2016-02-01 00:00:00

  • Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.

    abstract::Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/84848

    authors: Xiao S,Yu C,Chou X,Yuan W,Wang Y,Bu L,Fu G,Qian M,Yang J,Shi Y,Hu L,Han B,Wang Z,Huang W,Liu J,Chen Z,Zhao G,Kong X

    更新日期:2001-02-01 00:00:00

  • Epigenetic asymmetry of imprinted genes in plant gametes.

    abstract::Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1828

    authors: Gutiérrez-Marcos JF,Costa LM,Dal Prà M,Scholten S,Kranz E,Perez P,Dickinson HG

    更新日期:2006-08-01 00:00:00

  • Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

    abstract::X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/947

    authors: Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KM

    更新日期:1998-07-01 00:00:00

  • De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.

    abstract::Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity. PWS is due to a lack of paternal genetic information at 15q11-q13 (ref. 2). Five imprinted, paterna...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/75629

    authors: Bielinska B,Blaydes SM,Buiting K,Yang T,Krajewska-Walasek M,Horsthemke B,Brannan CI

    更新日期:2000-05-01 00:00:00

  • Genomic and molecular characterization of esophageal squamous cell carcinoma.

    abstract::Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mut...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2935

    authors: Lin DC,Hao JJ,Nagata Y,Xu L,Shang L,Meng X,Sato Y,Okuno Y,Varela AM,Ding LW,Garg M,Liu LZ,Yang H,Yin D,Shi ZZ,Jiang YY,Gu WY,Gong T,Zhang Y,Xu X,Kalid O,Shacham S,Ogawa S,Wang MR,Koeffler HP

    更新日期:2014-05-01 00:00:00

  • Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

    abstract::A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10),...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.584

    authors: Sanna S,Pitzalis M,Zoledziewska M,Zara I,Sidore C,Murru R,Whalen MB,Busonero F,Maschio A,Costa G,Melis MC,Deidda F,Poddie F,Morelli L,Farina G,Li Y,Dei M,Lai S,Mulas A,Cuccuru G,Porcu E,Liang L,Zavattari P,M

    更新日期:2010-06-01 00:00:00

  • A putative pheromone receptor gene expressed in human olfactory mucosa.

    abstract::Pheromones elicit specific behavioural responses and physiological alterations in recipients of the same species. In mammals, these chemical signals are recognized within the nasal cavity by sensory neurons that express pheromone receptors. In rodents, these receptors are thought to be represented by two large multige...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/79124

    authors: Rodriguez I,Greer CA,Mok MY,Mombaerts P

    更新日期:2000-09-01 00:00:00

  • BAP1 loss defines a new class of renal cell carcinoma.

    abstract::The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2323

    authors: Peña-Llopis S,Vega-Rubín-de-Celis S,Liao A,Leng N,Pavía-Jiménez A,Wang S,Yamasaki T,Zhrebker L,Sivanand S,Spence P,Kinch L,Hambuch T,Jain S,Lotan Y,Margulis V,Sagalowsky AI,Summerour PB,Kabbani W,Wong SW,Grishin N,

    更新日期:2012-06-10 00:00:00

  • Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting.

    abstract::Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecul...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0593-19

    authors: Rugarli EI,Lutz B,Kuratani SC,Wawersik S,Borsani G,Ballabio A,Eichele G

    更新日期:1993-05-01 00:00:00

  • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    abstract::Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.872

    authors: Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

    更新日期:2011-07-03 00:00:00

  • Exome sequencing of liver fluke-associated cholangiocarcinoma.

    abstract::Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2273

    authors: Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

    更新日期:2012-05-06 00:00:00

  • Identification of erythroferrone as an erythroid regulator of iron metabolism.

    abstract::Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2996

    authors: Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

    更新日期:2014-07-01 00:00:00

  • Genomic privacy and limits of individual detection in a pool.

    abstract::Recent studies have demonstrated that statistical methods can be used to detect the presence of a single individual within a study group based on summary data reported from genome-wide association studies (GWAS). We present an analytical and empirical study of the statistical power of such methods. We thereby aim to p...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.436

    authors: Sankararaman S,Obozinski G,Jordan MI,Halperin E

    更新日期:2009-09-01 00:00:00

  • Identification of genes involved in Drosophila melanogaster geotaxis, a complex behavioral trait.

    abstract::Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng893

    authors: Toma DP,White KP,Hirsch J,Greenspan RJ

    更新日期:2002-08-01 00:00:00

  • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

    abstract::CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this r...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1407

    authors: Vissers LE,van Ravenswaaij CM,Admiraal R,Hurst JA,de Vries BB,Janssen IM,van der Vliet WA,Huys EH,de Jong PJ,Hamel BC,Schoenmakers EF,Brunner HG,Veltman JA,van Kessel AG

    更新日期:2004-09-01 00:00:00

  • nagie oko, encoding a MAGUK-family protein, is essential for cellular patterning of the retina.

    abstract::A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng883

    authors: Wei X,Malicki J

    更新日期:2002-06-01 00:00:00

  • Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.

    abstract::The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1196-348

    authors: Sango K,McDonald MP,Crawley JN,Mack ML,Tifft CJ,Skop E,Starr CM,Hoffmann A,Sandhoff K,Suzuki K,Proia RL

    更新日期:1996-11-01 00:00:00

  • A systems analysis of mutational effects in HIV-1 protease and reverse transcriptase.

    abstract::The development of a quantitative understanding of viral evolution and the fitness landscape in HIV-1 drug resistance is a formidable challenge given the large number of available drugs and drug resistance mutations. We analyzed a dataset measuring the in vitro fitness of 70,081 virus samples isolated from HIV-1 subty...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.795

    authors: Hinkley T,Martins J,Chappey C,Haddad M,Stawiski E,Whitcomb JM,Petropoulos CJ,Bonhoeffer S

    更新日期:2011-05-01 00:00:00

  • Targeted breakage of a human chromosome mediated by cloned human telomeric DNA.

    abstract::Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1292-283

    authors: Itzhaki JE,Barnett MA,MacCarthy AB,Buckle VJ,Brown WR,Porter AC

    更新日期:1992-12-01 00:00:00

  • Vitamin C modulates TET1 function during somatic cell reprogramming.

    abstract::Vitamin C, a micronutrient known for its anti-scurvy activity in humans, promotes the generation of induced pluripotent stem cells (iPSCs) through the activity of histone demethylating dioxygenases. TET hydroxylases are also dioxygenases implicated in active DNA demethylation. Here we report that TET1 either positivel...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2807

    authors: Chen J,Guo L,Zhang L,Wu H,Yang J,Liu H,Wang X,Hu X,Gu T,Zhou Z,Liu J,Liu J,Wu H,Mao SQ,Mo K,Li Y,Lai K,Qi J,Yao H,Pan G,Xu GL,Pei D

    更新日期:2013-12-01 00:00:00

  • Closing gaps in the human genome with fosmid resources generated from multiple individuals.

    abstract::The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.2007.34

    authors: Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

    更新日期:2008-01-01 00:00:00

  • Understanding multicellular function and disease with human tissue-specific networks.

    abstract::Tissue and cell-type identity lie at the core of human physiology and disease. Understanding the genetic underpinnings of complex tissues and individual cell lineages is crucial for developing improved diagnostics and therapeutics. We present genome-wide functional interaction networks for 144 human tissues and cell t...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3259

    authors: Greene CS,Krishnan A,Wong AK,Ricciotti E,Zelaya RA,Himmelstein DS,Zhang R,Hartmann BM,Zaslavsky E,Sealfon SC,Chasman DI,FitzGerald GA,Dolinski K,Grosser T,Troyanskaya OG

    更新日期:2015-06-01 00:00:00

  • A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

    abstract::Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3417

    authors: Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

    更新日期:2015-12-01 00:00:00

  • Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

    abstract::Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in riboso...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3661

    authors: Jenkinson EM,Rodero MP,Kasher PR,Uggenti C,Oojageer A,Goosey LC,Rose Y,Kershaw CJ,Urquhart JE,Williams SG,Bhaskar SS,O'Sullivan J,Baerlocher GM,Haubitz M,Aubert G,Barañano KW,Barnicoat AJ,Battini R,Berger A,Blair EM

    更新日期:2016-10-01 00:00:00

  • Early specification of limb muscle precursor cells by the homeobox gene Lbx1h.

    abstract::During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/13843

    authors: Schäfer K,Braun T

    更新日期:1999-10-01 00:00:00

  • Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

    abstract::Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six dis...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/88925

    authors: Mykytyn K,Braun T,Carmi R,Haider NB,Searby CC,Shastri M,Beck G,Wright AF,Iannaccone A,Elbedour K,Riise R,Baldi A,Raas-Rothschild A,Gorman SW,Duhl DM,Jacobson SG,Casavant T,Stone EM,Sheffield VC

    更新日期:2001-06-01 00:00:00

  • Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours.

    abstract::Testicular germ-cell tumours (TGCT) affect 1 in 500 men and are the most common cancer in males aged 15-40 in Western European populations. The incidence of TGCT has risen dramatically over the last century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/72877

    authors: Rapley EA,Crockford GP,Teare D,Biggs P,Seal S,Barfoot R,Edwards S,Hamoudi R,Heimdal K,Fossâ SD,Tucker K,Donald J,Collins F,Friedlander M,Hogg D,Goss P,Heidenreich A,Ormiston W,Daly PA,Forman D,Oliver TD,Leahy M

    更新日期:2000-02-01 00:00:00

  • PRC1 proteins orchestrate three-dimensional genome architecture.

    abstract::The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...

    journal_title:Nature genetics

    pub_type: 评论,新闻

    doi:10.1038/ng.3411

    authors: Cavalli G

    更新日期:2015-10-01 00:00:00

  • A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1-b1 using RLGS spot-mapping.

    abstract::The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0596-87

    authors: Okazaki Y,Okuizumi H,Ohsumi T,Nomura O,Takada S,Kamiya M,Sasaki N,Matsuda Y,Nishimura M,Tagaya O,Muramatsu M,Hayashizaki Y

    更新日期:1996-05-01 00:00:00