Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

abstract：:Primary pulmonary hypertension (PPH), an often fatal disorder, is characterized by sustained elevation of pulmonary artery pressure of unknown cause. In its familial form (FPPH), the disorder segregates as an autosomal dominant and displays markedly reduced penetrance. A gene for FPPH was previously localized to a 25-...

journal_title：Genomics

authors： Machado RD,Pauciulo MW,Fretwell N,Veal C,Thomson JR,Vilariño Güell C,Aldred M,Brannon CA,Trembath RC,Nichols WC

更新日期：2000-09-01 00:00:00

abstract：:Comparative genetic analysis between human and chimpanzee may detect genetic divergences responsible for human-specific characteristics. Previous studies have identified a series of genes that potentially underwent Darwinian positive selection during human evolution. However, without a closely related species as outgr...

journal_title：Genomics

authors： Yu XJ,Zheng HK,Wang J,Wang W,Su B

更新日期：2006-12-01 00:00:00

abstract：:We have reported that a novel c-Myc binding protein, AMY-1, stimulated the transcription activity of c-Myc and was translocated from the cytoplasm to the nucleus in a c-Myc-dependent manner. AMY-1 works as an inducer of human K562 cell differentiation upon induction of AraC. To characterize the expression or functiona...

journal_title：Genomics

authors： Furusawa M,Taira T,Iguchi-Ariga SM,Ariga H

更新日期：2003-02-01 00:00:00

abstract：:To increase the number of markers on distal mouse chromosome 4, knowledge of the synteny homology between this region and human chromosome 1p (HSA1p) was used to identify candidate homologous mouse genes. Ten probes corresponding to loci on human chromosome 1p were tested to reveal polymorphisms between C57BL/6 and DB...

journal_title：Genomics

authors： McClive PJ,Morahan G

更新日期：1994-09-01 00:00:00

abstract：:Fishes possess more genes than other vertebrates, possibly because of a genome duplication event during the evolution of the teleost (ray-finned) fish lineage. To further explore this idea, we cloned five genes encoding phosphoinositide-specific phospholipase C-delta (PLC-delta), designated respectively PoPLC-deltas, ...

journal_title：Genomics

authors： Kim MS,Seo JS,Ahn SJ,Kim NY,Je JE,Sung JH,Lee HH,Chung JK

更新日期：2008-11-01 00:00:00

abstract：:Single nucleotide polymorphism (SNP) interactions can explain the missing heritability of common complex diseases. Many interaction detection methods have been proposed in genome-wide association studies, and they can be divided into two types: population-based and family-based. Compared with population-based methods,...

journal_title：Genomics

authors： Liu J,Yu G,Ren Y,Guo M,Wang J

更新日期：2019-09-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:By optimizing the primer-annealing temperature in a rapid air cycling procedure, two human DNA sequences encoding centromere proteins B and C (CENP-B and CENP-C) were specifically amplified without any detectable amplification of highly homologous rodent DNA sequences. Using a panel of rodent/human hybrid DNA, the gen...

journal_title：Genomics

authors： Sugimoto K,Yata H,Himeno M

更新日期：1993-07-01 00:00:00

abstract：:Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to su...

journal_title：Genomics

authors： Zelinski T,Verville G,White L,Hamerton JL,McAlpine PJ,Lewis M

更新日期：1988-02-01 00:00:00

abstract：:Interleukin-1 beta (IL-1 beta) mediates a wide range of immune and inflammatory responses. The active cytokine is generated by proteolytic cleavage of an inactive precursor by a protease called the IL-1 beta converting enzyme (ICE). A cDNA encoding this protease was recently isolated. A human genomic clone containing ...

journal_title：Genomics

authors： Cerretti DP,Hollingsworth LT,Kozlosky CJ,Valentine MB,Shapiro DN,Morris SW,Nelson N

更新日期：1994-04-01 00:00:00

abstract：:We present evidence of linkage between markers on chromosome 12 and asthma using the BETA program for nonparametric single- and multipoint linkage analysis. We have used quantitative scores as our phenotypic variables, combining data into indices for asthma and atopy and maximizing heritability. The largest single-loc...

journal_title：Genomics

authors： Wilkinson J,Grimley S,Collins A,Thomas NS,Holgate ST,Morton N

更新日期：1998-11-01 00:00:00

abstract：:Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57....

journal_title：Genomics

authors： O'Shannessy DJ,Bendas K,Schweizer C,Wang W,Albone E,Somers EB,Weil S,Meredith RK,Wustner J,Grasso L,Landers M,Nicolaides NC

更新日期：2017-07-01 00:00:00

abstract：:Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...

journal_title：Genomics

authors： Spitz F,Montavon T,Monso-Hinard C,Morris M,Ventruto ML,Antonarakis S,Ventruto V,Duboule D

更新日期：2002-04-01 00:00:00

abstract：:In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas th...

journal_title：Genomics

authors： Gilgenkrantz H,Chelly J,Lambert M,Récan D,Barbot JC,van Ommen GJ,Kaplan JC

更新日期：1989-10-01 00:00:00

abstract：:Complete or partial monosomy 7 is a recurring cytogenetic abnormality in acute myelogenous leukemia (AML) and myeloproliferative syndromes (MPS) and is particularly common in patients with Fanconi's anemia and in secondary AML. A familial form of monosomy 7 has been recognized in which two or more siblings develop MPS...

journal_title：Genomics

authors： Shannon KM,Turhan AG,Rogers PC,Kan YW

更新日期：1992-09-01 00:00:00

abstract：:Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA he...

journal_title：Genomics

authors： Cheung VG,Nelson SF

更新日期：1998-01-01 00:00:00

abstract：:The sensing of extracellular calcium is a general paradigm for regulating diverse cellular functions in many tissues. A calcium-sensing receptor (Casr) belonging to the metabotropic glutamate family of G-protein-coupled receptors (GPCR) that transduces the effects of extracellular calcium in the parathyroid gland as w...

journal_title：Genomics

authors： Hinson TK,Damodaran TV,Chen J,Zhang X,Qumsiyeh MB,Seldin MF,Quarles LD

更新日期：1997-10-15 00:00:00

abstract：:Single-pass sequencing of randomly selected cDNA clones to generate expressed sequence tags (ESTs) has been widely used to identify novel genes and to study gene expression in a variety of tissues. We have generated 2244 ESTs from a human fetal heart library (GenBank Accession Nos. R30692-30774 and R56965-58824), whic...

journal_title：Genomics

authors： Hwang DM,Fung YW,Wang RX,Laurenssen CM,Ng SH,Lam WY,Tsui KW,Fung KP,Waye M,Lee CY

更新日期：1995-11-20 00:00:00

abstract：:A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR HV1 region, which co...

journal_title：Genomics

authors： Levin BC,Cheng H,Reeder DJ

更新日期：1999-01-15 00:00:00

abstract：:The recent identification of an intragenic differentially methylated region (DMR) within the last exon of the bovine Insulin-like growth factor 2 (IGF2) gene provides a diagnostic tool for in-depth investigation of bovine imprinting and regulatory mechanisms which are active during embryo development. Here, we used bi...

journal_title：Genomics

authors： Gebert C,Wrenzycki C,Herrmann D,Gröger D,Thiel J,Reinhardt R,Lehrach H,Hajkova P,Lucas-Hahn A,Carnwath JW,Niemann H

更新日期：2009-07-01 00:00:00

abstract：:Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...

journal_title：Genomics

authors： Summers KM,Bokil NJ,Baisden JM,West MJ,Sweet MJ,Raggatt LJ,Hume DA

更新日期：2009-10-01 00:00:00

abstract：:Here, we report the genomic features and the bioremediation potential of Halomonas desertis G11, a new halophilic species which uses crude oil as a carbon and energy source and displays intrinsic resistance to salt stress conditions (optimum growth at 10% NaCl). G11 genome (3.96 Mb) had a mean GC content of 57.82%, 36...

journal_title：Genomics

authors： Neifar M,Chouchane H,Najjari A,El Hidri D,Mahjoubi M,Ghedira K,Naili F,Soufi L,Raddadi N,Sghaier H,Ouzari HI,Masmoudi AS,Cherif A

更新日期：2019-12-01 00:00:00

abstract：:Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...

journal_title：Genomics

authors： Courtay-Cahen C,Morris JS,Edwards PA

更新日期：2000-05-15 00:00:00

abstract：:The major histocompatibility complex (MHC) class I region has been shown to be associated with a variety of immune and nonimmune disorders. In an effort to initiate steps designed to identify the idiopathic hemochromatosis disease gene (HFE), we have cloned and mapped two expressed messages using probes from the HLA-H...

journal_title：Genomics

authors： Venditti CP,Harris JM,Geraghty DE,Chorney MJ

更新日期：1994-07-15 00:00:00

abstract：:DNA hybridization was used to isolate a 2.04-kb cDNA encoding carboxyl ester lipase (CEL) from a mouse lactating mammary gland, lambda gt10 cDNA library. The cDNA sequence translated into a protein of 599 amino acids, including 20 amino acids of a putative signal peptide. Comparison of the deduced amino acid sequence ...

journal_title：Genomics

authors： Lidmer AS,Kannius M,Lundberg L,Bjursell G,Nilsson J

更新日期：1995-09-01 00:00:00

abstract：:Sarcoptes scabiei (Acari: Sarcoptidae) causes a common contagious skin disease that affects many mammals. Here, the complete mitochondrial genome of a mite, S. scabiei var. nyctereutis, from Japanese wild raccoon dogs was analyzed. The 13,837bp circular genome contained 13 protein-coding genes, two rRNA genes, and 22 ...

journal_title：Genomics

authors： Ueda T,Tarui H,Kido N,Imaizumi K,Hikosaka K,Abe T,Minegishi D,Tada Y,Nakagawa M,Tanaka S,Omiya T,Morikaku K,Kawahara M,Kikuchi-Ueda T,Akuta T,Ono Y

更新日期：2019-12-01 00:00:00

abstract：:Mammalian genomes include DNA segments that are imprinted (CpG-methylated) only on one of the two parental chromosomes, leading to parent-of-origin-specific gene expression. The process is regulated by Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, ZFP57 was shown...

journal_title：Genomics

authors： Bina M

更新日期：2017-07-01 00:00:00

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

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

更新日期：2001-05-15 00:00:00

abstract：:The sequence of 20,114 bp of DNA including the human glucose-6-phosphate dehydrogenase (G6PD) gene was determined. The region included a prominent CpG island, starting about 680 nucleotides upstream of the transcription start site, extending about 1050 nucleotides downstream of the start site, and ending just at the s...

journal_title：Genomics

authors： Chen EY,Cheng A,Lee A,Kuang WJ,Hillier L,Green P,Schlessinger D,Ciccodicola A,D'Urso M

更新日期：1991-07-01 00:00:00

abstract：:Using cDNA probes obtained from library screening and anchored polymerase chain reaction, we have isolated and characterized three overlapping mouse genomic clones that contain the mouse lipocortin I (Lipo I) structural gene. Restriction enzyme mapping, Southern blotting, and DNA sequencing were carried out on the clo...

journal_title：Genomics

authors： Horlick KR,Cheng IC,Wong WT,Wakeland EK,Nick HS

更新日期：1991-06-01 00:00:00