Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis.

abstract：:Conductin or Axil, an Axin homolog, plays an important role in the regulation of beta-catenin stability in the Wnt signaling pathway. To facilitate the molecular analysis of the human gene, we isolated the human homolog, AXIN2. The cDNA contains a 2529-bp open reading frame and encodes a putative protein of 843 amino ...

journal_title：Genomics

authors： Mai M,Qian C,Yokomizo A,Smith DI,Liu W

更新日期：1999-02-01 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 acyl-CoA binding protein (ACBP) and the diazepam binding inhibitor (DBI) or endozepine are independent isolates of a single 86-amino-acid, 10-kDa protein. ACBP/DBI is highly conserved between species and has been identified in several diverse organisms, including human, cow, rat, frog, duck, insects, plants, and y...

journal_title：Genomics

authors： Gersuk VH,Rose TM,Todaro GJ

更新日期：1995-01-20 00:00:00

abstract：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:Transcripts related to the human carcinoembryonic antigen were found in mRNA isolated from both dimethylbenzanthracene-induced and mouse mammary tumor virus-induced mammary tumors. A cDNA library was prepared from a dimethylbenzanthracene-induced tumor, and a clone was isolated by hybridization with a human carcinoemb...

journal_title：Genomics

authors： Robbins J,Robbins PF,Kozak CA,Callahan R

更新日期：1991-07-01 00:00:00

abstract：:We have isolated and sequenced part of a new gene of the tyrosine kinase family. This gene, called FLT3, has strong sequence similarities with members of a group of genes encoding growth factor receptors: FMS, KIT, and PDGFR. We have localized the human FLT3 gene to chromosome 13, band q12, and its mouse homolog to ch...

journal_title：Genomics

authors： Rosnet O,Matteï MG,Marchetto S,Birnbaum D

更新日期：1991-02-01 00:00:00

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

authors： Chai NN,Salido EC,Yen PH

更新日期：1997-10-15 00:00:00

abstract：:Four allelic forms of serum plasminogen (PLG) were detected in baboons (Papio hamadryas Linneaus 1758) by isoelectric focusing and were determined to be inherited as autosomal codominant traits. Linkage analysis of data from 179 progeny and their parents revealed that PLG is tightly linked (lod score = 30.20) to the g...

journal_title：Genomics

authors： VandeBerg JL,Weitkamp L,Kammerer CM,Weill P,Aivaliotis MJ,Rainwater DL

更新日期：1991-12-01 00:00:00

abstract：:Human genomic mapping has been greatly advanced by the independent development of three new methods: large DNA fragment cloning in yeast artificial chromosomes, amplification from complex DNAs of human specific segments by Alu-PCR, and high-resolution localization of complex DNA probes by fluorescent in situ hybridiza...

journal_title：Genomics

authors： Breen M,Arveiler B,Murray I,Gosden JR,Porteous DJ

更新日期：1992-07-01 00:00:00

abstract：:We describe the construction of a high-resolution radiation hybrid (RH) map of the domestic cat genome, which includes 2662 markers, translating to an estimated average intermarker distance of 939 kilobases (kb). Targeted marker selection utilized the recent feline 1.9x genome assembly, concentrating on regions of low...

journal_title：Genomics

authors： Davis BW,Raudsepp T,Pearks Wilkerson AJ,Agarwala R,Schäffer AA,Houck M,Chowdhary BP,Murphy WJ

更新日期：2009-04-01 00:00:00

abstract：:Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, an...

journal_title：Genomics

authors： Gregg RG,Metzenberg AB,Hogan K,Sekhon G,Laxova R

更新日期：1991-04-01 00:00:00

abstract：:An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the ret...

journal_title：Genomics

authors： Roderick TH,Chang B,Hawes NL,Heckenlively JR

更新日期：1997-06-15 00:00:00

abstract：:Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...

journal_title：Genomics

authors： Li JW,Lai KP,Ching AK,Chan TF

更新日期：2014-01-01 00:00:00

abstract：:We have isolated and chromosomally fine-mapped 16 novel genes belonging to the human zinc finger Krüppel family (ZNF131-140, 142, 143, 148, 151, 154, and 155), including 1 of the GLI type (ZNF143) and 3 containing a KRAB (Krüppel-associated box) segment (ZNF133, 136, and 140). Based on their map position, several of t...

journal_title：Genomics

authors： Tommerup N,Vissing H

更新日期：1995-05-20 00:00:00

abstract：:The solute carrier family 22 (SLC22) is a large family of organic cation and anion transporters. These are transmembrane proteins expressed predominantly in kidneys and liver and mediate the uptake and excretion of environmental toxins, endogenous substances, and drugs from the body. Through a comprehensive database s...

journal_title：Genomics

authors： Jacobsson JA,Haitina T,Lindblom J,Fredriksson R

更新日期：2007-11-01 00:00:00

abstract：:The nervous (nr) mutant mouse displays two gross recessive traits: both an exaggeration of juvenile hyperactivity and a pronounced ataxia become apparent during the third and fourth postnatal weeks. Using an intersubspecific intercross, we have established a high-resolution map of a segment of mouse chromosome 8 that ...

journal_title：Genomics

authors： De Jager PL,Harvey D,Polydorides AD,Zuo J,Heintz N

更新日期：1998-03-15 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：: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

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

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：:Use of mixed models is in the spotlight as an emerging method for genome-wide association studies (GWASs). This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology. Quantitative traits were simulated through design of herita...

journal_title：Genomics

authors： Shin J,Lee C

更新日期：2015-01-01 00:00:00

abstract：:We characterize the cDNA and genomic structure of NSBP1, and demonstrate that it is a nuclear protein and the homologue of mouse Nsbp1, which is known to encode a nucleosomal binding and transcriptional activating protein related to the HMG-14/-17 chromosomal proteins. The encoded NSBP1 protein has 86% amino acid simi...

journal_title：Genomics

authors： King LM,Francomano CA

更新日期：2001-01-15 00:00:00

abstract：:Lymphocyte antigen-6 (LY-6) superfamily members are cysteine-rich, generally GPI-anchored cell surface proteins, which have definite or putative immune related roles. A cluster of five potential LY-6 superfamily members is located in the human and mouse major histocompatibility complex class III region. Comparative an...

journal_title：Genomics

authors： Mallya M,Campbell RD,Aguado B

更新日期：2002-07-01 00:00:00

abstract：:Intercellular adhesion molecule-1 (ICAM-1) is an integral membrane protein, a member of the immunoglobulin superfamily, and a ligand for LFA-1, a beta 2 leukocyte integrin. ICAM-1 has a tissue distribution similar to that of the major histocompatibility complex class II antigens and is likely to play a role in inflamm...

journal_title：Genomics

authors： Ballantyne CM,Kozak CA,O'Brien WE,Beaudet AL

更新日期：1991-03-01 00:00:00

abstract：:Portions of 16 chromosome 21 NotI linking clones were sequenced. These linking clone sequences represent sequence-tagged restriction sites that are potentially useful for finding genes and for finer genome mapping and sequencing. All of the clones were G+C rich (54 to 83%). CpG and GpC dinucleotide frequencies were ve...

journal_title：Genomics

authors： Zhu Y,Cantor CR,Smith CL

更新日期：1993-11-01 00:00:00

abstract：:Klebsiella variicola is an emerging pathogen responsible for causing blood-stream infections, urinary and respiratory tract related diseases in humans. In this report, we describe the genome sequence data and phenotypic characterization of K. variicola strain KV093 isolated from India. Comparative genome sequence anal...

journal_title：Genomics

authors： Srinivasan VB,Rajamohan G

更新日期：2020-09-01 00:00:00

abstract：:RNA helicase A is an enzyme that possesses both RNA and DNA helicase activities. In this report, we describe the isolation of a mouse cDNA encoding RNA helicase A. The deduced amino acid sequence derived from mouse RNA helicase A cDNA exhibits 87 and 47% identity to its human and Drosophila homologs, respectively. Usi...

journal_title：Genomics

authors： Lee CG,Eki T,Okumura K,da Costa Soares V,Hurwitz J

更新日期：1998-02-01 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

abstract：:Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...

journal_title：Genomics

authors： Bina M,Wyss P,Ren W,Szpankowski W,Thomas E,Randhawa R,Reddy S,John PM,Pares-Matos EI,Stein A,Xu H,Lazarus SA

更新日期：2004-12-01 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：: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