The complete sequences of the galago and rabbit beta-globin locus control regions: extended sequence and functional conservation outside the cores of DNase hypersensitive sites.

abstract：:A wide range of autoimmune and other diseases are known to be associated with the major histocompatibility complex. Many of these diseases are linked to the genes encoding the polymorphic histocompatibility antigens in the class I and class II regions, but some appear to be more strongly associated with genes in the c...

journal_title：Genomics

authors： Albertella MR,Jones H,Thomson W,Olavesen MG,Campbell RD

更新日期：1996-09-01 00:00:00

abstract：:Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two non...

journal_title：Genomics

authors： Eudy JD,Ma-Edmonds M,Yao SF,Talmadge CB,Kelley PM,Weston MD,Kimberling WJ,Sumegi J

更新日期：1997-07-01 00:00:00

abstract：:The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein. We characterized the structure of three new genes encoding these CHAC-similar proteins, located on chromoso...

journal_title：Genomics

authors： Velayos-Baeza A,Vettori A,Copley RR,Dobson-Stone C,Monaco AP

更新日期：2004-09-01 00:00:00

abstract：:In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

journal_title：Genomics

authors： Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

更新日期：1992-05-01 00:00:00

abstract：:We have isolated a human homologue (MEST) of the mouse mesoderm-specific transcript (Mest) gene that shares about 70% nucleotide sequence homology. Northern blot analysis showed that the MEST gene was expressed in all major fetal organs and tissues so far examined, i.e., amnion, brain, heart, lung, stomach, gut, adren...

journal_title：Genomics

authors： Nishita Y,Yoshida I,Sado T,Takagi N

更新日期：1996-09-15 00:00:00

abstract：:Nineteen polymorphic lymphocyte proteins were previously detected by two-dimensional protein electrophoresis (2DE). In this report, we describe the genetic linkage mapping of six of these polymorphic proteins (PNIA1-PNIA6), the identification by genetic linkage of a seventh (glyoxalase 1 on 6p21), and support for the ...

journal_title：Genomics

authors： Goldman D,O'Brien SJ,Lucas-Derse S,Dean M

更新日期：1991-12-01 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 imprinted U2af1-rs1 gene that maps to mouse chromosome 11 is predominately expressed from the paternal allele. We examined the methylation of genomic sequences in and around the U2af1-rs1 locus to establish the extent of sequence modifications that accompanied the silencing of the maternal allele. The analysis of ...

journal_title：Genomics

authors： Shibata H,Yoshino K,Sunahara S,Gondo Y,Katsuki M,Ueda T,Kamiya M,Muramatsu M,Murakami Y,Kalcheva I,Plass C,Chapman VM,Hayashizaki Y

更新日期：1996-07-01 00:00:00

abstract：:We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisel...

journal_title：Genomics

authors： Mizuguchi T,Okamoto N,Yanagihara K,Miyatake S,Uchiyama Y,Tsuchida N,Hamanaka K,Fujita A,Miyake N,Matsumoto N

更新日期：2020-11-04 00:00:00

abstract：:Laboratory mouse strains are known to have emerged from recent interbreeding between individuals of Mus musculus isolated populations. As a result of this breeding history, the collection of polymorphisms observed between laboratory mouse strains is likely to harbor the effects of natural selection between reproductiv...

journal_title：Genomics

authors： Reuveni E,Birney E,Gross CT

更新日期：2010-04-01 00:00:00

abstract：:The sequence of the gorilla alpha-fetoprotein gene, including 869 base pairs of the 5' flanking region and 4892 base pairs of the 3' flanking region (24,607 in total), was determined from two overlapping lambda phage clones. The sequence extends 18,846 base pairs from the Cap site to the polyadenylation site, and it r...

journal_title：Genomics

authors： Ryan SC,Zielinski R,Dugaiczyk A

更新日期：1991-01-01 00:00:00

abstract：:Four highly conserved members of the skeletal protein 4.1 gene family encode a diverse array of protein isoforms via tissue-specific transcription and developmentally regulated alternative pre-mRNA splicing. In addition to the prototypical red blood cell 4.1R (human gene symbol EPB41,) these include two homologues tha...

journal_title：Genomics

authors： Peters LL,Weier HU,Walensky LD,Snyder SH,Parra M,Mohandas N,Conboy JG

更新日期：1998-12-01 00:00:00

abstract：:Cyclin-dependent kinase 5 (Cdk5) is predominantly expressed in neurons. In vitro, Cdk5 purified from the nervous tissue phosphorylates both high-molecular-weight neurofilament and microtubule-associated tau. The mouse gene encoding Cdk5 (Cdk5) was found to be 5 kb in length and divided into 12 exons. All of the exon-i...

journal_title：Genomics

authors： Ohshima T,Nagle JW,Pant HC,Joshi JB,Kozak CA,Brady RO,Kulkarni AB

更新日期：1995-08-10 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：:Mcm proteins perform functions related to the regulation of eukaryotic genome replication. Previous work has shown that human cells contain at least five different Mcm proteins. We report now the amino acid sequence of an additional human Mcm protein, p105Mcm, and show that it is homologous to the Schizosaccharomyces ...

journal_title：Genomics

authors： Holthoff HP,Hameister H,Knippers R

更新日期：1996-10-01 00:00:00

abstract：:Zebrafish transgenesis is a powerful and increasingly common strategy to assay vertebrate transcriptional regulatory control. Several challenges remain, however, to the broader application of this technique; they include increasing the rate with which transgenes can be analyzed and maximizing the informational value o...

journal_title：Genomics

authors： McGaughey DM,McCallion AS

更新日期：2010-06-01 00:00:00

abstract：:In the past decades, the rapid growth of computer and database technologies has led to the rapid growth of large-scale medical datasets. On the other, medical applications with high dimensional datasets that require high speed and accuracy are rapidly increasing. One of the dimensionality reduction approaches is featu...

journal_title：Genomics

authors： Rostami M,Forouzandeh S,Berahmand K,Soltani M

更新日期：2020-11-01 00:00:00

abstract：:The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...

journal_title：Genomics

authors： Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

更新日期：2007-08-01 00:00:00

abstract：:Traditionally, somatic mutations are detected by examining DNA sequence. The maturity of sequencing technology has allowed researchers to screen for somatic mutations in the whole genome. Increasingly, researchers have become interested in identifying somatic mutations through RNAseq data. With this motivation, we eva...

journal_title：Genomics

authors： Sheng Q,Zhao S,Li CI,Shyr Y,Guo Y

更新日期：2016-05-01 00:00:00

abstract：:We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....

journal_title：Genomics

authors： Elson A,Kozak CA,Morton CC,Weremowicz S,Leder P

更新日期：1996-02-01 00:00:00

abstract：:We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovi...

journal_title：Genomics

authors： Tilstra DJ,Li L,Potter KA,Womack J,Byers PH

更新日期：1994-09-15 00:00:00

abstract：:The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...

journal_title：Genomics

authors： Taylor BA,Phillips SJ

更新日期：1996-06-15 00:00:00

abstract：:Alternative splicing is an important cellular mechanism that increases the diversity of gene products. The number of alternatively spliced genes reported so far in plants is much smaller than that in mammals, but is increasing as a result of the explosive growth of available EST and genomic sequences. We have searched...

journal_title：Genomics

authors： Zhou Y,Zhou C,Ye L,Dong J,Xu H,Cai L,Zhang L,Wei L

更新日期：2003-12-01 00:00:00

abstract：:Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...

journal_title：Genomics

authors： Barski OA,Gabbay KH,Bohren KM

更新日期：1999-09-01 00:00:00

abstract：:Creating transgenic mice is an important technology for genetic studies and is currently performed by pronuclear microinjection of plasmid DNA into fertilized eggs. Since survival of injected embryos and integration of plasmid DNA are not efficient, total efficiency is only around 3% with a standard protocol. To circu...

journal_title：Genomics

authors： Sumiyama K,Kawakami K,Yagita K

更新日期：2010-05-01 00:00:00

abstract：:The complete nucleotide sequence of murine beta-glucuronidase (GUS) mRNA has been compiled from three overlapping cloned cDNAs and a single GUS-specific genomic clone. The sequence is composed of 2455 nucleotides, exclusive of the poly(A) tail. The 5' and 3' untranslated regions contain 12 and 499 bases, respectively,...

journal_title：Genomics

authors： Gallagher PM,D'Amore MA,Lund SD,Ganschow RE

更新日期：1988-04-01 00:00:00

abstract：:The human UBE2L3 gene encodes the ubiquitin-conjugating enzyme UbcH7, demonstrated to participate in the ubiquitination of p53, c-Fos, and NF-kappaB in vitro. We report the fine-mapping of this four-exon gene to chromosome 22q11.2. We have constructed a comprehensive genomic clone contig across this gene, demonstratin...

journal_title：Genomics

authors： Moynihan TP,Cole CG,Dunham I,O'Neil L,Markham AF,Robinson PA

更新日期：1998-07-01 00:00:00

abstract：:Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa...

journal_title：Genomics

authors： Suzuki T,Li W,Zhang Q,Novak EK,Sviderskaya EV,Wilson A,Bennett DC,Roe BA,Swank RT,Spritz RA

更新日期：2001-11-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...

journal_title：Genomics

authors： van der Zwaag B,Burbach JP,Scharfe C,Oefner PJ,Brunner HG,Padberg GW,van Bokhoven H

更新日期：2005-07-01 00:00:00