A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.

Abstract:

:An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that is, an increase in the number of muscle fibers rather than in their individual diameter. Although the hereditary nature of the double-muscled condition was recognized early on, the precise mode of inheritance has remained controversial; monogenic (domainant and recessive), oligogenic and polygenic models have been proposed. In the Belgian Blue cattle breed (BBCB), segregation analysis performed both in experimental crosses and in the outbred population suggested an autosomal recessive inheritance. This was confirmed when the muscular hypertrophy (mh) locus was mapped 3.1 cM from microsatellite TGLA44 on the centromeric end of bovine chromosome 2 (ref. 5). We used a positional candidate approach to demonstrate that a mutation in bovine MSTN, which encodes myostatin, a member of the TGF beta superfamily, is responsible for the double-muscled phenotype. We report an 11-bp deletion in the coding sequence for the bioactive carboxy-terminal domain of the protein causing the muscular hypertrophy observed in Belgian Blue cattle.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Grobet L,Martin LJ,Poncelet D,Pirottin D,Brouwers B,Riquet J,Schoeberlein A,Dunner S,Ménissier F,Massabanda J,Fries R,Hanset R,Georges M

doi

10.1038/ng0997-71

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

71-4

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

17

pub_type

杂志文章
  • Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.

    abstract::1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0897-391

    authors: Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

    更新日期:1997-08-01 00:00:00

  • Theoretical and empirical issues for marker-assisted breeding of congenic mouse strains.

    abstract::Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1197-280

    authors: Markel P,Shu P,Ebeling C,Carlson GA,Nagle DL,Smutko JS,Moore KJ

    更新日期:1997-11-01 00:00:00

  • Pyruvate kinase deficiency in mice protects against malaria.

    abstract::The global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1260

    authors: Min-Oo G,Fortin A,Tam MF,Nantel A,Stevenson MM,Gros P

    更新日期:2003-12-01 00:00:00

  • Homology-based annotation yields 1,042 new candidate genes in the Drosophila melanogaster genome.

    abstract::The approach to annotating a genome critically affects the number and accuracy of genes identified in the genome sequence. Genome annotation based on stringent gene identification is prone to underestimate the complement of genes encoded in a genome. In contrast, over-prediction of putative genes followed by exhaustiv...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/85922

    authors: Gopal S,Schroeder M,Pieper U,Sczyrba A,Aytekin-Kurban G,Bekiranov S,Fajardo JE,Eswar N,Sanchez R,Sali A,Gaasterland T

    更新日期:2001-03-01 00:00:00

  • A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

    abstract::To identify new susceptibility loci for psoriasis, we undertook a genome-wide association study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified associations at eight previously unreported genomic loci. Seven loci harbored genes with recognized immune functions (IL28RA, REL, IFIH1,...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.694

    authors: Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2.,Strange A,Capon F,Spencer CC,Knight J,Weale ME,Allen MH,Barton A,Band G,Bellenguez C,Bergboer JG,Blackwell JM,Bramon E,Bumpstead SJ,Casa

    更新日期:2010-11-01 00:00:00

  • Mesp2 initiates somite segmentation through the Notch signalling pathway.

    abstract::The Notch-signalling pathway is important in establishing metameric pattern during somitogenesis. In mice, the lack of either of two molecules involved in the Notch-signalling pathway, Mesp2 or presenilin-1 (Ps1), results in contrasting phenotypes: caudalized versus rostralized vertebra. Here we adopt a genetic approa...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/78062

    authors: Takahashi Y,Koizumi K,Takagi A,Kitajima S,Inoue T,Koseki H,Saga Y

    更新日期:2000-08-01 00:00:00

  • The Arabidopsis lyrata genome sequence and the basis of rapid genome size change.

    abstract::We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.807

    authors: Hu TT,Pattyn P,Bakker EG,Cao J,Cheng JF,Clark RM,Fahlgren N,Fawcett JA,Grimwood J,Gundlach H,Haberer G,Hollister JD,Ossowski S,Ottilar RP,Salamov AA,Schneeberger K,Spannagl M,Wang X,Yang L,Nasrallah ME,Bergelson J

    更新日期:2011-05-01 00:00:00

  • Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

    abstract::We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.3177

    authors: Zhang MY,Churpek JE,Keel SB,Walsh T,Lee MK,Loeb KR,Gulsuner S,Pritchard CC,Sanchez-Bonilla M,Delrow JJ,Basom RS,Forouhar M,Gyurkocza B,Schwartz BS,Neistadt B,Marquez R,Mariani CJ,Coats SA,Hofmann I,Lindsley RC,Wil

    更新日期:2015-02-01 00:00:00

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

    abstract::We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1718

    authors: Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerrière A,Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M,Dubas F,Frebourg T,Campion D

    更新日期:2006-01-01 00:00:00

  • RPA regulates telomerase action by providing Est1p access to chromosome ends.

    abstract::Replication protein A (RPA) is a highly conserved single-stranded DNA-binding protein involved in DNA replication, recombination and repair. We show here that RPA is present at the telomeres of the budding yeast Saccharomyces cerevisiae, with a maximal association in S phase. A truncation of the N-terminal region of R...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1284

    authors: Schramke V,Luciano P,Brevet V,Guillot S,Corda Y,Longhese MP,Gilson E,Géli V

    更新日期:2004-01-01 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

  • TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.

    abstract::TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/s41588-017-0002-y

    authors: Verma N,Pan H,Doré LC,Shukla A,Li QV,Pelham-Webb B,Teijeiro V,González F,Krivtsov A,Chang CJ,Papapetrou EP,He C,Elemento O,Huangfu D

    更新日期:2018-01-01 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

  • Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants.

    abstract::An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1888

    authors: Derti A,Roth FP,Church GM,Wu CT

    更新日期:2006-10-01 00:00:00

  • Mouse mutagenesis on target.

    abstract::Large-scale mutagenesis of the mouse genome is an essential task associated with the Human Genome Project. The two opposing schools of direct and reverse genetics have demonstrated comparable advantages, and yet large numbers of mutant lines have mostly been the prerogative of direct genetics. An improved gene-trappin...

    journal_title:Nature genetics

    pub_type: 评论,新闻

    doi:10.1038/90017

    authors: Jackson IJ

    更新日期:2001-07-01 00:00:00

  • Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production.

    abstract::Chronic granulomatous disease (CGD) is a recessive disorder characterized by a defective phagocyte respiratory burst oxidase, life-threatening pyogenic infections and inflammatory granulomas. Gene targeting was used to generate mice with a null allele of the gene involved in X-linked CGD, which encodes the 91 kD subun...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0295-202

    authors: Pollock JD,Williams DA,Gifford MA,Li LL,Du X,Fisherman J,Orkin SH,Doerschuk CM,Dinauer MC

    更新日期:1995-02-01 00:00:00

  • Bioinformatics in the post-sequence era.

    abstract::In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...

    journal_title:Nature genetics

    pub_type: 历史文章,杂志文章,评审

    doi:10.1038/ng1109

    authors: Kanehisa M,Bork P

    更新日期:2003-03-01 00:00:00

  • A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.

    abstract::Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

    journal_title:Nature genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1038/ng.2636

    authors: Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

    更新日期:2013-07-01 00:00:00

  • A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies.

    abstract::Aggregate results from genome-wide association studies (GWAS), such as genotype frequencies for cases and controls, were until recently often made available on public websites because they were thought to disclose negligible information concerning an individual's participation in a study. Homer et al. recently suggest...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.455

    authors: Jacobs KB,Yeager M,Wacholder S,Craig D,Kraft P,Hunter DJ,Paschal J,Manolio TA,Tucker M,Hoover RN,Thomas GD,Chanock SJ,Chatterjee N

    更新日期:2009-11-01 00:00:00

  • Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance.

    abstract::We have genetically retrieved, resurrected and performed detailed structure-function analyses on authentic woolly mammoth hemoglobin to reveal for the first time both the evolutionary origins and the structural underpinnings of a key adaptive physiochemical trait in an extinct species. Hemoglobin binds and carries O(2...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.574

    authors: Campbell KL,Roberts JE,Watson LN,Stetefeld J,Sloan AM,Signore AV,Howatt JW,Tame JR,Rohland N,Shen TJ,Austin JJ,Hofreiter M,Ho C,Weber RE,Cooper A

    更新日期:2010-06-01 00:00:00

  • The glial cells missing-1 protein is essential for branching morphogenesis in the chorioallantoic placenta.

    abstract::Trophoblast cells of the placenta are established at the blastocyst stage and differentiate into specialized subtypes after implantation. In mice, the outer layer of the placenta consists of trophoblast giant cells that invade the uterus and promote maternal blood flow to the implantation site by producing cytokines w...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/77076

    authors: Anson-Cartwright L,Dawson K,Holmyard D,Fisher SJ,Lazzarini RA,Cross JC

    更新日期:2000-07-01 00:00:00

  • Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.

    abstract::Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.623

    authors: Bezzina CR,Pazoki R,Bardai A,Marsman RF,de Jong JSSG,Blom MT,Scicluna BP,Jukema JW,Bindraban NR,Lichtner P,Pfeufer A,Bishopric NH,Roden DM,Meitinger T,Chugh SS,Myerburg RJ,Jouven X,Kääb S,Dekker LRC,Tan HL,Tanck M

    更新日期:2010-08-01 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

  • Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

    abstract::Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European anc...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng.941

    authors: Soler Artigas M,Loth DW,Wain LV,Gharib SA,Obeidat M,Tang W,Zhai G,Zhao JH,Smith AV,Huffman JE,Albrecht E,Jackson CM,Evans DM,Cadby G,Fornage M,Manichaikul A,Lopez LM,Johnson T,Aldrich MC,Aspelund T,Barroso I,Cam

    更新日期:2011-09-25 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

  • Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice.

    abstract::Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithel...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0992-13

    authors: Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

    更新日期:1992-09-01 00:00:00

  • Choose your target.

    abstract::The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

    journal_title:Nature genetics

    pub_type: 杂志文章,评审

    doi:10.1038/82825

    authors: Capecchi MR

    更新日期:2000-10-01 00:00:00

  • An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.

    abstract::Osteoarthritis is the most common form of human arthritis. We investigated the potential role of asporin, an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis, in the pathogenesis of osteoarthritis. Here we report a significant association between a polym...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1496

    authors: Kizawa H,Kou I,Iida A,Sudo A,Miyamoto Y,Fukuda A,Mabuchi A,Kotani A,Kawakami A,Yamamoto S,Uchida A,Nakamura K,Notoya K,Nakamura Y,Ikegawa S

    更新日期:2005-02-01 00:00:00

  • A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2.

    abstract::Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng0397-273

    authors: Comuzzie AG,Hixson JE,Almasy L,Mitchell BD,Mahaney MC,Dyer TD,Stern MP,MacCluer JW,Blangero J

    更新日期:1997-03-01 00:00:00

  • Indian hedgehog is a major mediator of progesterone signaling in the mouse uterus.

    abstract::The hedgehog family of morphogens are regulators of cell proliferation, differentiation and cell-cell communication. These morphogens have been shown to have important roles in organogenesis, spermatogenesis, stem cell maintenance and oncogenesis. Indian hedgehog (encoded by Ihh) has been shown to be expressed in the ...

    journal_title:Nature genetics

    pub_type: 杂志文章

    doi:10.1038/ng1874

    authors: Lee K,Jeong J,Kwak I,Yu CT,Lanske B,Soegiarto DW,Toftgard R,Tsai MJ,Tsai S,Lydon JP,DeMayo FJ

    更新日期:2006-10-01 00:00:00