Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

abstract：:The goat beta-globin cluster is composed of a triplicated four-gene set. A locus control region (LCR) containing elements homologous to 5'DNase I hypersensitive sites (HS) 1, 2, and 3 of the human beta-globin LCR has been identified at the 5' end of this locus. We determined 10.2 kb of nucleotide sequence from the goa...

journal_title：Genomics

authors： Li Q,Zhou B,Powers P,Enver T,Stamatoyannopoulos G

更新日期：1991-03-01 00:00:00

abstract：:We have hybridized all 28 chromosome-specific painting probes from the domestic sheep (Ovis aries, 2n = 54) onto metaphase chromosomes of the Indian muntjac deer (Muntiacus muntjak vaginalis, 2n = 6,7) and identified 35 conserved chromosomal segments. Results from this study show that most of the sheep acrocentric chr...

journal_title：Genomics

authors： Burkin DJ,Yang F,Broad TE,Wienberg J,Hill DF,Ferguson-Smith MA

更新日期：1997-11-15 00:00:00

abstract：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00

abstract：:The two contiguous IGF2 (human insulin-like growth factor II) and H19 genes are reciprocally imprinted in both human and mouse. In most tissues, IGF2 is transcribed only from the paternal chromosome while H19 is transcribed only from the maternal allele. The presence of a differential methylation region (DMR) on the t...

journal_title：Genomics

authors： Vu TH,Li T,Nguyen D,Nguyen BT,Yao XM,Hu JF,Hoffman AR

更新日期：2000-03-01 00:00:00

abstract：:The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...

journal_title：Genomics

authors： Mbikay M,Seidah NG,Chrétien M,Simpson EM

更新日期：1995-03-01 00:00:00

abstract：:An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22. Isolation and sequencing of cDNA clones corresponding to this exon revealed extensive similarity of the predicted amino acid sequence of this gene product to ...

journal_title：Genomics

authors： Long KR,Trofatter JA,Ramesh V,McCormick MK,Buckler AJ

更新日期：1996-08-01 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

abstract：:Dynamins, microtubule-binding GTPases, are encoded by at least three genes in mammals. Two distinct gene-specific cDNAs were used to analyze the segregation of dynamin genes Dnm1 and Dnm2 in a mouse interspecies backcross. The nervous system-expressed gene Dnm1 was localized to Chr 2 between the genes for vimentin and...

journal_title：Genomics

authors： Klocke R,Augustin A,Ronsiek M,Stief A,van der Putten H,Jockusch H

更新日期：1997-04-15 00:00:00

abstract：:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific ...

journal_title：Genomics

authors： Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS

更新日期：1994-08-01 00:00:00

abstract：:Lymphocytes of mouse strains BALB/cHeA (BALB/c) and STS/A (STS) differ in the IL-2-induced proliferative response, STS being a high and BALB/c a low responder in the range of concentrations 125-2000 IE/ml. We analyzed the genetic basis of this strain difference using the recombinant congenic (RC) strains of the BALB/c...

journal_title：Genomics

authors： Krulová M,Havelková H,Kosarová M,Holán V,Hart AA,Demant P,Lipoldová M

更新日期：1997-05-15 00:00:00

abstract：:Differential epigenetic modification by methylation of CpG dinucleotides is a candidate mechanism that may identify the alleles of imprinted genes and result in monoallelic expression of either the maternal or the paternal allele. Determination of the allelic methylation status of imprinted genes in the gametes and du...

journal_title：Genomics

authors： McDonald LE,Paterson CA,Kay GF

更新日期：1998-12-15 00:00:00

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

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

更新日期：2018-09-01 00:00:00

abstract：:Members of the apolipoprotein gene cluster (APOA1/C3/A4/A5) on human chromosome 11q23 play an important role in lipid metabolism. Polymorphisms in both APOA5 and APOC3 are strongly associated with plasma triglyceride concentrations. The close genomic locations of these two genes as well as their functional similarity ...

journal_title：Genomics

authors： Olivier M,Wang X,Cole R,Gau B,Kim J,Rubin EM,Pennacchio LA

更新日期：2004-05-01 00:00:00

abstract：:A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC cl...

journal_title：Genomics

authors： Nothwang HG,Stubanus M,Adolphs J,Hanusch H,Vossmerbäumer U,Denich D,Kübler M,Mincheva A,Lichter P,Hildebrandt F

更新日期：1998-01-15 00:00:00

abstract：:The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...

journal_title：Genomics

authors： Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

更新日期：2015-08-01 00:00:00

abstract：:A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...

journal_title：Genomics

authors： Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

更新日期：1990-03-01 00:00:00

abstract：:Recent studies on the molecular mechanisms controlling the mammalian cell cycle have disclosed a large family of cdc2-related serine/threonine kinases. Among this gene family, the PCTAIRE protein kinases comprise a distinct subfamily of unknown cellular function. To analyze the genomic structure and chromosomal locati...

journal_title：Genomics

authors： Okuda T,Valentine VA,Shapiro DN,Downing JR

更新日期：1994-05-01 00:00:00

abstract：:The presence of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phenotypes in Down syndrome, including mental retardation. To study genes potentially responsible for some of these phenotypes, we cloned a human candidate gene (DYRK) from 21q22.2 and its murine counterpart (Dyrk...

journal_title：Genomics

authors： Song WJ,Sternberg LR,Kasten-Sportès C,Keuren ML,Chung SH,Slack AC,Miller DE,Glover TW,Chiang PW,Lou L,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:A comparison of the murine and human junB loci reveals nine regions of distal 5'- and 3'-flanking DNA that exhibit greater than 72% sequence identity. A large fraction (over 50%) of the junB locus is contained in these flanking evolutionarily conserved sequences (FECS), which may be required for effecting the proper t...

journal_title：Genomics

authors： Phinney DG,Tseng SW,Ryder K

更新日期：1995-07-20 00:00:00

abstract：:Receiver operating characteristic (ROC) has been widely used to evaluate statistical methods, but a fatal problem is that ROC cannot evaluate estimation of the false discovery rate (FDR) of a statistical method and hence the area under of curve as a criterion cannot tell us if a statistical method is conservative. To ...

journal_title：Genomics

authors： Tan YD

更新日期：2011-11-01 00:00:00

abstract：:Odorant receptors (ORs) and vomeronasal receptors (V1Rs and V2Rs) are large superfamilies of chemosensory receptors. As an extension of previous research using the 2001 Celera mouse genome assembly, we analyzed OR and V1R genes in the 2002 public mouse genome assembly. We identified 1403 OR genes (1068 potentially int...

journal_title：Genomics

authors： Zhang X,Rodriguez I,Mombaerts P,Firestein S

更新日期：2004-05-01 00:00:00

abstract：:To predict the functions of a possible protein product of any new or uncharacterized DNA sequence, it is important first to detect all significant similarities between the encoded amino acid sequence and any accumulated protein sequence data. We have implemented a set of queries and database sequences and proceeded to...

journal_title：Genomics

authors： Shpaer EG,Robinson M,Yee D,Candlin JD,Mines R,Hunkapiller T

更新日期：1996-12-01 00:00:00

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

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

abstract：:Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analys...

journal_title：Genomics

authors： Valero MC,de Luis O,Cruces J,Pérez Jurado LA

更新日期：2000-10-01 00:00:00

abstract：:A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. The sizes of the polymorphic fragments were 1.70 and 1.75 kb and the disease was found to segregate with the 1.70-kb fragment in 32 meioses. Only the 1.75-kb fragment was detected in fami...

journal_title：Genomics

authors： Dahl N,Erikson A,Hammarström-Heeroma K,Pettersson U

更新日期：1988-11-01 00:00:00

abstract：:Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. Al...

journal_title：Genomics

authors： Sherlock JK,Griffin DK,Delhanty JD,Parrington JM

更新日期：1996-04-15 00:00:00

abstract：:The recent release of the domestic dog genome provides us with an ideal opportunity to investigate dog-specific genomic features. In this study, we performed a systematic analysis of CpG islands (CGIs), which are often considered gene markers, in the dog genome. Relative to the human and mouse genomes, the dog genome ...

journal_title：Genomics

authors： Han L,Zhao Z

更新日期：2009-08-01 00:00:00

abstract：:The human HYAL2 gene encodes a lysosomal hyaluronidase that is related to the testicular PH-20 hyaluronidase. Regions conserved in these proteins have been used to design PCR primers suitable for the isolation of a fragment of the murine Hyal2 gene. This fragment was used to isolate the Hyal2 cDNA from a cDNA library....

journal_title：Genomics

authors： Strobl B,Wechselberger C,Beier DR,Lepperdinger G

更新日期：1998-10-15 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：:The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...

journal_title：Genomics

authors： Oetting WS,Lee HK,Flanders DJ,Wiesner GL,Sellers TA,King RA

更新日期：1995-12-10 00:00:00