Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.


: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 marker on ECA2 and identified a region of conserved homozygosity spanning approximately 142 kb. Complete sequencing of the four genes in this region identified one SNP found only in Arabian horses, located in exon 4 of TOE1 and approximately 1200 base pairs upstream of MUTYH, adjacent to a possible binding site for the transcription factor GATA2. qPCR analysis of cDNA from the cerebella of affected and unaffected horses suggested that MUTYH expression is down-regulated in affected horses. This SNP may therefore have a function effect on TOE1, or a regulatory effect on MUTYH by negatively affecting the binding affinity of GATA2.






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




Has Abstract


2011-02-01 00:00:00
















  • A comparison of gene expression profiles produced by SAGE, long SAGE, and oligonucleotide chips.

    abstract::A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...


    pub_type: 杂志文章


    authors: Lu J,Lal A,Merriman B,Nelson S,Riggins G

    更新日期:2004-10-01 00:00:00

  • CEPH consortium Map of chromosome 9.

    abstract::This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers incl...


    pub_type: 杂志文章


    authors: Attwood J,Chiano M,Collins A,Donis-Keller H,Dracopoli N,Fountain J,Falk C,Goudie D,Gusella J,Haines J

    更新日期:1994-01-15 00:00:00

  • Cloning of the human SIX1 gene and its assignment to chromosome 14.

    abstract::The recently described murine homeobox genes, Six1 and Six2, which are expressed during development in limb tendons, have also been shown to be expressed in skeletal and smooth muscle, respectively. We have cloned and sequenced a human SIX1 cDNA and shown by Northern blotting that it is expressed in adult skeletal mus...


    pub_type: 杂志文章


    authors: Boucher CA,Carey N,Edwards YH,Siciliano MJ,Johnson KJ

    更新日期:1996-04-01 00:00:00

  • Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain.

    abstract::The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...


    pub_type: 杂志文章


    authors: Nal B,Mohr E,Silva MI,Tagett R,Navarro C,Carroll P,Depetris D,Verthuy C,Jordan BR,Ferrier P

    更新日期:2002-01-01 00:00:00

  • Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts.

    abstract::In this work we describe the process that, starting with the production of human full-length-enriched cDNA libraries using the CAP-Trapper method, led us to the discovery of 342 putative new human genes. Twenty-three thousand full-length-enriched clones, obtained from various cell lines and tissues in different develo...


    pub_type: 杂志文章


    authors: Dalla E,Mignone F,Verardo R,Marchionni L,Marzinotto S,Lazarević D,Reid JF,Marzio R,Klarić E,Licastro D,Marcuzzi G,Gambetta R,Pierotti MA,Pesole G,Schneider C

    更新日期:2005-06-01 00:00:00

  • The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2.

    abstract::Using an interspecies backcross, we have mapped the HOX-5 and surfeit (surf) gene clusters within the proximal portion of mouse chromosome 2. While the HOX-5 cluster of homeobox-containing genes has been localized to chromosome 2, bands C3-E1, by in situ hybridization, its more precise position relative to the genes a...


    pub_type: 杂志文章


    authors: Stubbs L,Huxley C,Hogan B,Evans T,Fried M,Duboule D,Lehrach H

    更新日期:1990-04-01 00:00:00

  • Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.

    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...


    pub_type: 杂志文章


    authors: Tommerup N,Vissing H

    更新日期:1995-05-20 00:00:00

  • Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map.

    abstract::Microsatellite repeat loci can provide informative markers for genetic linkage. Currently, the human chromosome 2 genetic linkage map has very few highly polymorphic markers. Being such a large chromosome, it will require a large number of informative markers for the dense coverage desired to allow disease genes to be...


    pub_type: 杂志文章


    authors: Todd S,Sherman SL,Naylor SL

    更新日期:1993-06-01 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....


    pub_type: 杂志文章


    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

  • Analysis of expressed sequence tags from a fetal human heart cDNA library.

    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...


    pub_type: 杂志文章


    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

  • Syntenic assignments of visual transduction genes in cattle.

    abstract::To establish syntenic relationships of phototransduction genes, we have mapped the genes encoding the alpha-, beta-, and gamma-subunits of rod cGMP phosphodiesterase (PDE) (PDEA, PDEB, PDEG), the alpha'-subunit of cone PDE (PDEA2), and the rod cGMP-gated channel (CNCG) to bovine syntenic groups. The rod cGMP PDE alpha...


    pub_type: 杂志文章


    authors: Gallagher DS Jr,Womack JE,Baehr W,Pittler SJ

    更新日期:1992-11-01 00:00:00

  • Subregional localization of 20 single-copy loci to chromosome 6 by fluorescence in situ hybridization.

    abstract::Although 338 genetic loci and 1 or more candidate tumor suppressor genes have been assigned to chromosome 6, the physical and genetic map of this chromosome is at a very preliminary stage. In this study, we have performed subregional localization of 20 single-copy DNA sequences previously assigned to chromosome 6 usin...


    pub_type: 杂志文章


    authors: Rao PH,Murty VV,Gaidano G,Hauptschein R,Dalla-Favera R,Chaganti RS

    更新日期:1993-05-01 00:00:00

  • Fragmented mitochondrial genomes evolved in opposite directions between closely related macaque louse Pedicinus obtusus and colobus louse Pedicinus badii.

    abstract::We report for the first time the fragmented mitochondrial (mt) genomes of two Pedicinus species: Pedicinus obtusus and Pedicinus badii, and compared them with the lice of humans and chimpanzees. Despite being congeneric, the two monkey lice are distinct from each other in mt karyotype. The variation in mt karyotype be...


    pub_type: 杂志文章


    authors: Fu YT,Dong Y,Wang W,Nie Y,Liu GH,Shao R

    更新日期:2020-11-01 00:00:00

  • Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster.

    abstract::Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...


    pub_type: 杂志文章


    authors: Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

    更新日期:1993-08-01 00:00:00

  • Functional characterization of the human PAX3 gene regulatory region.

    abstract::Spatiotemporal expression of the PAX3 gene is tightly regulated during development. We have isolated and sequenced the 5'-flanking regulatory region of human PAX3. Primer extension and ribonuclease protection mapping revealed that transcription is initiated from a single start site downstream of a TATA-like motif in h...


    pub_type: 杂志文章


    authors: Okladnova O,Syagailo YV,Tranitz M,Riederer P,Stöber G,Mössner R,Lesch KP

    更新日期:1999-04-01 00:00:00

  • Stage-specific transcriptomic analysis of the model cestode Hymenolepis microstoma.

    abstract::Most parasitic flatworms go through different life stages with important physiological and morphological changes. In this work, we used a transcriptomic approach to analyze the main life-stages of the model tapeworm Hymenolepis microstoma (eggs, cysticercoids, and adults). Our results showed massive transcriptomic cha...


    pub_type: 杂志文章


    authors: Preza M,Calvelo J,Langleib M,Hoffmann F,Castillo E,Koziol U,Iriarte A

    更新日期:2021-01-21 00:00:00

  • Functional consequences of naturally occurring DRY motif variants in the mammalian chemoattractant receptor GPR33.

    abstract::Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...


    pub_type: 杂志文章


    authors: Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

    更新日期:2006-06-01 00:00:00

  • Pseudomonas putida modulates the expression of miRNAs and their target genes in response to drought and salt stresses in chickpea (Cicer arietinum L.).

    abstract::MicroRNAs are small non-coding regulatory RNA molecules that play an important role in the modulation of gene expression during various environmental stresses. Pseudomonas putida RA, a plant growth promoting rhizobacteria (PGPR) colonizes the root surface of plants improving their growth and development during abiotic...


    pub_type: 杂志文章


    authors: Jatan R,Chauhan PS,Lata C

    更新日期:2019-07-01 00:00:00

  • Regional localization of human chromosome 15 loci.

    abstract::One hundred forty-nine chromosome 15 loci were mapped by PCR with respect to chromosome breakpoints in three somatic cell hybrids retaining total or part of chromosome 15 and to a 10-Mb YAC contig. This chromosome was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per meg...


    pub_type: 杂志文章


    authors: Richard I,Broux O,Chiannilkulchai N,Fougerousse F,Allamand V,Bourg N,Brenguier L,Devaud C,Pasturaud P,Roudaut C

    更新日期:1994-10-01 00:00:00

  • Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene.

    abstract::The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...


    pub_type: 杂志文章


    authors: Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

    更新日期:1992-07-01 00:00:00

  • Genomic mapping by anchoring random clones: a mathematical analysis.

    abstract::A complete physical map of the DNA of an organism, consisting of overlapping clones spanning the genome, is an extremely useful tool for genomic analysis. Various methods for the construction of such physical maps are available. One approach is to assemble the physical map by "fingerprinting" a large number of random ...


    pub_type: 杂志文章


    authors: Arratia R,Lander ES,Tavaré S,Waterman MS

    更新日期:1991-12-01 00:00:00

  • Localization of the human UBA52 ubiquitin fusion gene to chromosome band 19p13.1-p12.

    abstract::Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...


    pub_type: 杂志文章


    authors: Webb GC,Baker RT,Coggan M,Board PG

    更新日期:1994-02-01 00:00:00

  • Genetic dissection of "OLETF," a rat model for non-insulin-dependent diabetes mellitus: quantitative trait locus analysis of (OLETF x BN) x OLETF.

    abstract::To identify genetic determinants relevant to non-insulin-dependent diabetes mellitus (NIDDM), we performed a genome-wide analysis for quantitative trait loci (QTLs) using 359 backcross progeny of the Otsuka Long-Evans Tokushima Fatty (OLETF) rat. The OLETF strain is a well-studied animal model of obese NIDDM, with fea...


    pub_type: 杂志文章


    authors: Watanabe TK,Okuno S,Oga K,Mizoguchi-Miyakita A,Tsuji A,Yamasaki Y,Hishigaki H,Kanemoto N,Takagi T,Takahashi E,Irie Y,Nakamura Y,Tanigami A

    更新日期:1999-06-15 00:00:00

  • Chromosomal mapping of Tmp (Emp1), Xmp (Emp2), and Ymp (Emp3), genes encoding membrane proteins related to Pmp22.

    abstract::We have recently characterized a novel mammalian gene family, encoding membrane glycoproteins with four trans-membrane domains. This gene family includes the previously studied PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved symbols EMP1, EMP2 and...


    pub_type: 杂志文章


    authors: Ben-Porath I,Kozak CA,Benvenisty N

    更新日期:1998-05-01 00:00:00

  • In situ mapping of the gene coding for a leucine zipper DNA binding protein (CDR62) to 16p12-16p13.1.

    abstract::A cDNA clone encoding the major antigen (CDR62) associated with the antibody-induced paraneoplastic cerebellar degeneration has been used to identify the chromosomal location of the corresponding structural gene(s) by screening for its retention in a panel of rodent-human somatic cell hybrids. Having established the s...


    pub_type: 杂志文章


    authors: Gress T,Baldini A,Rocchi M,Furneaux H,Posner JB,Siniscalco M

    更新日期:1992-08-01 00:00:00

  • Structure of the gorilla alpha-fetoprotein gene and the divergence of primates.

    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...


    pub_type: 杂志文章


    authors: Ryan SC,Zielinski R,Dugaiczyk A

    更新日期:1991-01-01 00:00:00

  • CWLy-pred: A novel cell wall lytic enzyme identifier based on an improved MRMD feature selection method.

    abstract::Cell wall lytic enzymes play key roles in biochemical, morphological, genetic research and industry fields. To save time and labor costs, bioinformatic methods are usually adopted to narrow the scope of in vitro experimentation. In this paper, we established a novel machine learning (support vector machine) based iden...


    pub_type: 杂志文章


    authors: Meng C,Wu J,Guo F,Dong B,Xu L

    更新日期:2020-11-01 00:00:00

  • Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

    abstract::A number of murine cataract mutations have been localized to chromosome 1 close to the gamma-crystallin gene cluster (Cryg) (Everett et al., 1994, Genomics 20: 429-434; Löster et al., 1994, Genomics 23: 240-242). Based on the size of the mapping or allelism tests they have not been shown to be genetically distinct and...


    pub_type: 杂志文章


    authors: Klopp N,Favor J,Löster J,Lutz RB,Neuhäuser-Klaus A,Prescott A,Pretsch W,Quinlan RA,Sandilands A,Vrensen GF,Graw J

    更新日期:1998-09-01 00:00:00

  • CancerProView: a graphical image database of cancer-related genes and proteins.

    abstract::We have developed a graphical image database CancerProView (URL: to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...


    pub_type: 杂志文章


    authors: Mitsuyama S,Shimizu N

    更新日期:2012-08-01 00:00:00

  • A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3.

    abstract::Recently, we identified multiple unique sequences in the 21q22.3 region and predicted them to be a cluster of genes encoding hair-specific keratin-associated proteins (KAPs). Detailed computer-aided analysis of these clustered genes revealed that the cluster spans over 165 kb and consists of 21 KAP-related sequences i...


    pub_type: 杂志文章


    authors: Shibuya K,Obayashi I,Asakawa S,Minoshima S,Kudoh J,Shimizu N

    更新日期:2004-04-01 00:00:00