Physical mapping of the rippling muscle disease locus.

Abstract:

:Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be contained within a 12-cM interval with a maximum multipoint lod score of 3.56. A YAC/BAC contig was assembled by STS content mapping and database searches spanning the nonrecombinant interval containing the RMD gene (RMD1). The physical map, in conjunction with recent mapping information from various other sources, clarified the order of genetic markers in this region and necessitated redefinition of the RMD genetic interval by linkage analysis with the newly ordered markers. Polymorphisms that mapped to the YACs in this contig were genotyped in this family and used to provide statistical support for narrowing of the critical genetic interval to 3 cM, corresponding to a maximum possible physical distance of 4.0 Mb. In addition, recombination breakpoint mapping supported the evidence that RMD1 must reside within this interval between markers D1S446 and D1S2680. ESTs (82) were mapped to the YACs spanning the region known to contain the RMD1 gene, and of these, 9 become strong positional candidates. The physical and refined genetic maps of this RMD locus set the stage for isolation of the responsible gene and elucidation of a novel patho-mechanism of calcium homeostasis in skeletal muscle.

journal_name

Genomics

journal_title

Genomics

authors

Stephan DA,Hoffman EP

doi

10.1006/geno.1998.5689

subject

Has Abstract

pub_date

1999-02-01 00:00:00

pages

268-74

issue

3

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(98)95689-0

journal_volume

55

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.

    abstract::Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.5796

    authors: Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

    更新日期:1999-05-01 00:00:00

  • "Major minisatellite loci" detected by minisatellite clones 33.6 and 33.15 correspond to the cognate loci D1S111 and D7S437.

    abstract::G. Chimini et al. (1989, Genomics 5: 316-324) have recently reported that the two multilocus DNA fingerprinting probes 33.6 and 33.15 each detect a single major site in the human genome, at 1q23 and 7q35-q36, respectively, and speculate that these sites represent particularly large loci homologous to these probes. How...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90183-u

    authors: Jeffreys AJ,MacLeod A,Neumann R,Povey S,Royle NJ

    更新日期:1990-07-01 00:00:00

  • Haplotype variation at Badh2, the gene determining fragrance in rice.

    abstract::Fragrance is an important component of end-use quality in rice. A set of 516 fragrant rice accessions were genotyped and over 80% of them carried the badh2.7 allele. A subset of 144 mostly fragrant accessions, including nine of Oryza rufipogon, was then subjected to a detailed diversity and haplotype analysis. The lev...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2012.11.010

    authors: Shao G,Tang S,Chen M,Wei X,He J,Luo J,Jiao G,Hu Y,Xie L,Hu P

    更新日期:2013-02-01 00:00:00

  • Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

    abstract::PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination be...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.1230

    authors: Rothschild CB,Freedman BI,Hodge R,Rao PN,Pettenati MJ,Anderson RA,Akots G,Qadri A,Roh B,Fajans SS

    更新日期:1995-09-01 00:00:00

  • Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia.

    abstract::Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2001.6535

    authors: Jamain S,Quach H,Fellous M,Bourgeron T

    更新日期:2001-05-15 00:00:00

  • Differential expansion of the N-formylpeptide receptor gene cluster in human and mouse.

    abstract::The human formylpeptide receptor (FPR) gene cluster has three members: FPR1 and FPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, and FPRL2, whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Usin...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5376

    authors: Gao JL,Chen H,Filie JD,Kozak CA,Murphy PM

    更新日期:1998-07-15 00:00:00

  • Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.

    abstract::Evi9, a common site of retroviral integration in BXH2 murine myeloid leukemias, encodes a C2H2 zinc finger protein and is overexpressed in these leukemic cells. To investigate a possible role of EVI9 in the human hematopoietic system, we isolated the cDNA clone of the human homologue. Human EVI9, located on the chromo...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2000.6385

    authors: Saiki Y,Yamazaki Y,Yoshida M,Katoh O,Nakamura T

    更新日期:2000-12-15 00:00:00

  • Genomic structure and chromosomal localization of the mouse CDEI-binding protein CDEBP (APLP2) gene and promoter sequences.

    abstract::The genomic structure of the mouse gene encoding the CDEBP protein has been established. The protein was initially identified on the basis of its ability to bind the CDEI motif (GTCACATG). The same locus has been independently described under the name APLP2, on the basis of sequence similarities with the Amyloid Precu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0318

    authors: Yang Y,Martin L,Cuzin F,Mattei MG,Rassoulzadegan M

    更新日期:1996-07-01 00:00:00

  • Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity.

    abstract::The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90408-k

    authors: Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

    更新日期:1992-01-01 00:00:00

  • The gene for the human putative apoE receptor is on chromosome 12 in the segment q13-14.

    abstract::We have previously described the cDNA coding for a new lipoprotein receptor that contains domains closely related to the ligand-binding domain of the LDL receptor. We have now investigated the localization of the gene for this new receptor by hybridization of the cDNA to panels of rodent cells containing subsets of hu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90087-6

    authors: Myklebost O,Arheden K,Rogne S,Geurts van Kessel A,Mandahl N,Herz J,Stanley K,Heim S,Mitelman F

    更新日期:1989-07-01 00:00:00

  • Evolutionary rate heterogeneity between multi- and single-interface hubs across human housekeeping and tissue-specific protein interaction network: Insights from proteins' and its partners' properties.

    abstract::Integrating gene expression into protein-protein interaction network (PPIN) leads to the construction of tissue-specific (TS) and housekeeping (HK) sub-networks, with distinctive TS- and HK-hubs. All such hub proteins are divided into multi-interface (MI) hubs and single-interface (SI) hubs, where MI hubs evolve slowe...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2017.11.006

    authors: Biswas K,Acharya D,Podder S,Ghosh TC

    更新日期:2018-09-01 00:00:00

  • Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci.

    abstract::Chromosomal locations have been assigned to seven members of the TGF-beta superfamily using an interspecific mouse backcross. Probes for the Tgfb-1, -2, and -3, Bmp-2a and -3, and Vgr-1 genes recognized only single loci, whereas the Bmp-2b probe recognized two independently segregating loci (designated Bmp-2b1 and Bmp...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90480-i

    authors: Dickinson ME,Kobrin MS,Silan CM,Kingsley DM,Justice MJ,Miller DA,Ceci JD,Lock LF,Lee A,Buchberg AM

    更新日期:1990-03-01 00:00:00

  • Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome.

    abstract::The RBM (RNA-binding motif) gene family on the human Y chromosome encodes proteins with an RNA-binding domain. Its exclusive expression in germ cells and its partial deletion in some azoospermic or severely oligospermic males provide evidence of a role for RBM genes in spermatogenesis. There are approximately 30 RBM g...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4944

    authors: Chai NN,Salido EC,Yen PH

    更新日期:1997-10-15 00:00:00

  • The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter.

    abstract::The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5055

    authors: Mallee JJ,Atta MG,Lorica V,Rim JS,Kwon HM,Lucente AD,Wang Y,Berry GT

    更新日期:1997-12-15 00:00:00

  • Improved gene targeting in C. elegans using counter-selection and Flp-mediated marker excision.

    abstract::Gene targeting is widely used for the precise manipulation of genes. However, in the model organism Caenorhabditis elegans non-transposon mediated gene targeting remains laborious, and as a result has not been widely used. One obstacle to the wider use of this approach is the difficulty of identifying homologous recom...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2009.09.001

    authors: Vázquez-Manrique RP,Legg JC,Olofsson B,Ly S,Baylis HA

    更新日期:2010-01-01 00:00:00

  • Isolation, sequencing, and mapping of the human homologue of the yeast transcription factor, SPT5.

    abstract::We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0646

    authors: Chiang PW,Fogel E,Jackson CL,Lieuallen K,Lennon G,Qu X,Wang SQ,Kurnit DM

    更新日期:1996-12-15 00:00:00

  • Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

    abstract::Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes, and thus methylation assays are widely used to support the identifi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2001.6502

    authors: Hannula K,Lipsanen-Nyman M,Scherer SW,Holmberg C,Höglund P,Kere J

    更新日期:2001-04-01 00:00:00

  • MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis.

    abstract::MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13....

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5383

    authors: Fenner MH,Parrish JE,Boyd Y,Reed V,MacDonald M,Nelson DL,Isselbacher KJ,Shioda T

    更新日期:1998-08-01 00:00:00

  • Diversity, structure, and expression of the gene for p26, a small heat shock protein from Artemia.

    abstract::p26, a small heat shock protein, is thought to protect Artemia embryos from stress during encystment and diapause. Full-length p26 cDNAs were compared and used to determine phylogenetic relationships between several Artemia species. The alpha-crystallin domain of p26 was the most conserved region of the protein and p2...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.02.008

    authors: Qiu Z,Bossier P,Wang X,Bojikova-Fournier S,MacRae TH

    更新日期:2006-08-01 00:00:00

  • The boundary of macaque rDNA is constituted by low-copy sequences conserved during evolution.

    abstract::In Macaca mulatta, the single rDNA array is flanked by a patchwork of sequences including subregions of human Yp11.2, 4q35.2, and 10p15.3. This composite DNA region is characterized by unique or low-copy sequences, resembling a potentially transcribed region. The analysis of Cercopithecus aethiops, Presbytis cristata,...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.05.001

    authors: Bodega B,Cardone MF,Rocchi M,Meneveri R,Marozzi A,Ginelli E

    更新日期:2006-11-01 00:00:00

  • Gene expression profiling of rat liver reveals a mechanistic basis for ritonavir-induced hyperlipidemia.

    abstract::The molecular mechanisms of action of a HIV protease inhibitor, ritonavir, on hepatic function were explored on a genomic scale using microarrays comprising genes expressed in the liver of Sprague-Dawley rats (Rattus norvegicus). Analyses of hepatic transcriptional fingerprints led to the identification of several key...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2007.06.004

    authors: Lum PY,He YD,Slatter JG,Waring JF,Zelinsky N,Cavet G,Dai X,Fong O,Gum R,Jin L,Adamson GE,Roberts CJ,Olsen DB,Hazuda DJ,Ulrich RG

    更新日期:2007-10-01 00:00:00

  • Influence of epistatic segregation distortion loci on genetic marker linkages in Japanese flounder.

    abstract::For genetic linkage analysis of Japanese flounder, 160 doubled haploids (DH) were artificially produced using mitotic gynogenesis and were genotyped for 458 simple sequence repeat (SSR) markers, 101 of which show distortional segregation. The genetic linkage map was constructed by modifying recombination fractions bet...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2017.08.006

    authors: Zhao J,Han D,Shi K,Wang L,Gao J,Yang R

    更新日期:2018-01-01 00:00:00

  • DNA-methylation dependent regulation of embryo-specific 5S ribosomal DNA cluster transcription in adult tissues of sea urchin Paracentrotus lividus.

    abstract::We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2013.08.001

    authors: Bellavia D,Dimarco E,Naselli F,Caradonna F

    更新日期:2013-10-01 00:00:00

  • Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.

    abstract::We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcom...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.9976

    authors: Fisher SE,Hatchwell E,Chand A,Ockenden N,Monaco AP,Craig IW

    更新日期:1995-09-20 00:00:00

  • Genotyping with TaqMAMA.

    abstract::TaqMAMA combines the quantitative strengths of TaqMan with the allele-specific PCR of MAMA. In this article we develop TaqMAMA as a technique for screening human DNA samples for known genetic polymorphisms. In the first set of experiments, plasmids that model all types of genetic polymorphisms were used to understand ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2003.08.005

    authors: Li B,Kadura I,Fu DJ,Watson DE

    更新日期:2004-02-01 00:00:00

  • Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint.

    abstract::Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1354

    authors: Selleri L,Giovannini M,Hermanson GG,Romo A,Quackenbush J,Penny L,Khristich JV,Evans GA

    更新日期:1994-07-01 00:00:00

  • Effect of the key histone modifications on the expression of genes related to breast cancer.

    abstract::Abnormal histone modifications (HMs) and transcription factors (TFs) can alter the expression of cancer-related genes to promote tumorigenesis. We studied the variations of 11 HMs and 2 TFs in human breast cancer cells (MCF-7) compared to human normal mammary epithelial cells (HMEC), and the effects of HMs/TFs in vari...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2019.05.026

    authors: Jin W,Li QZ,Liu Y,Zuo YC

    更新日期:2020-01-01 00:00:00

  • A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

    abstract::We completed a systematic survey of the human genome, conducted at an average resolution of 10 cM, for the identification of simple sequence tandem repeat polymorphisms (SSTRPs) that target new risk genes for Alzheimer disease (AD) by virtue of linkage disequilibrium. The efficiency of our association study was enhanc...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5306

    authors: Zubenko GS,Hughes HB,Stiffler JS,Hurtt MR,Kaplan BB

    更新日期:1998-06-01 00:00:00

  • Gene expression changes in children with autism.

    abstract::The objective of this study was to identify gene expression differences in blood differences in children with autism (AU) and autism spectrum disorder (ASD) compared to general population controls. Transcriptional profiles were compared with age- and gender-matched, typically developing children from the general popul...

    journal_title:Genomics

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.ygeno.2007.09.003

    authors: Gregg JP,Lit L,Baron CA,Hertz-Picciotto I,Walker W,Davis RA,Croen LA,Ozonoff S,Hansen R,Pessah IN,Sharp FR

    更新日期:2008-01-01 00:00:00

  • Chromosomal assignment of 46 brain cDNAs.

    abstract::Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90439-y

    authors: Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

    更新日期:1992-03-01 00:00:00