Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle.

abstract：:The chromosomal abnormality represented by an isodicentric X chromosome [idic(X)(q13)] is associated with a subset of acute myeloid leukemia (AML) and preleukemia observed in elderly females. A previous study localized the breakpoints of two acquired isodicentric X chromosomes associated with myelodysplasia to a 450-k...

journal_title：Genomics

authors： McDonell N,Ramser J,Francis F,Vinet MC,Rider S,Sudbrak R,Riesselman L,Yaspo ML,Reinhardt R,Monaco AP,Ross F,Kahn A,Kearney L,Buckle V,Chelly J

更新日期：2000-03-15 00:00:00

abstract：:We present a rapid and efficient method for the isolation of minisatellite loci from human DNA. The method combines cloning a size-selected fraction of human MboI DNA fragments in a charomid vector with hybridization screening of the library in ordered array. Size-selection of large MboI fragments enriches for the lon...

journal_title：Genomics

authors： Armour JA,Povey S,Jeremiah S,Jeffreys AJ

更新日期：1990-11-01 00:00:00

abstract：:One of the major challenges in genome research is the identification of the complete set of genes in a genome. Alignments of expressed sequences (RNA and EST) with genomic sequences have been used to characterize genes. However, the number of alignments far exceeds the likely number of genes in a genome, suggesting th...

journal_title：Genomics

authors： Xie H,Diber A,Pollock S,Nemzer S,Safer H,Meloon B,Olson A,Hwang JJ,Endress GA,Savitsky K,Gill-More R

更新日期：2004-04-01 00:00:00

abstract：:The LIM domain is a structural motif that is well conserved throughout evolution in a variety of factors known to play important roles in development and cell regulation. Ldb genes encode LIM domain-binding (Ldb) factors. Here we report on the structural organization and chromosomal localization of the mouse Ldb1 gene...

journal_title：Genomics

authors： Yamashita T,Agulnick AD,Copeland NG,Gilbert DJ,Jenkins NA,Westphal H

更新日期：1998-02-15 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：:We report the mapping of the human gene MPB1 (c-myc promoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-myc P2 promoter and exerts a negative regulatory role on c-myc transcription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic proper...

journal_title：Genomics

authors： White RA,Adkison LR,Dowler LL,Ray RB

更新日期：1997-02-01 00:00:00

abstract：:Imbalanced protease activity has long been recognized in the progression of disease states such as cancer and inflammation. Serpins, the largest family of endogenous protease inhibitors, target a wide variety of serine and cysteine proteases and play a role in a number of physiological and pathological states. The exp...

journal_title：Genomics

authors： Badola S,Spurling H,Robison K,Fedyk ER,Silverman GA,Strayle J,Kapeller R,Tsu CA

更新日期：2006-08-01 00:00:00

abstract：:Fragrance is an important component of end-use quality in rice. A set of 516 fragrant rice accessions were genotyped and over 80% of them carried the badh2.7 allele. A subset of 144 mostly fragrant accessions, including nine of Oryza rufipogon, was then subjected to a detailed diversity and haplotype analysis. The lev...

journal_title：Genomics

authors： Shao G,Tang S,Chen M,Wei X,He J,Luo J,Jiao G,Hu Y,Xie L,Hu P

更新日期：2013-02-01 00:00:00

abstract：:N6-methyladenine (6mA) is one kind of post-replication modification (PTM or PTRM) occurring in a wide range of DNA sequences. Accurate identification of its sites will be very helpful for revealing the biological functions of 6mA, but it is time-consuming and expensive to determine them by experiments alone. Unfortuna...

journal_title：Genomics

authors： Feng P,Yang H,Ding H,Lin H,Chen W,Chou KC

更新日期：2019-01-01 00:00:00

abstract：:Histamine N-methyltransferase (HNMT), a cytosolic histamine-metabolizing enzyme, is the only known product of the 50-kb human HNMT. Here, a detailed investigation of HNMT products revealed the existence of a new brain mRNA product of HNMT. This species, named HNMT-Short (HNMT-S), encodes a 126-amino-acid protein. Nort...

journal_title：Genomics

authors： Barnes WG,Grinde E,Crawford DR,Herrick-Davis K,Hough LB

更新日期：2004-01-01 00:00:00

abstract：:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be...

journal_title：Genomics

authors： Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J

更新日期：1991-01-01 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

abstract：:The intron-containing genes encoding rat and human ribosomal protein L19 (RPL19) have been cloned. The DNA sequences of the entire rat RPL19 gene and the 5' end of the human RPL19 gene have been determined. Sequence comparison of corresponding regions of the two genes reveals a striking interspecies homology in the 5'...

journal_title：Genomics

authors： Davies B,Fried M

更新日期：1995-01-20 00:00:00

abstract：:The 19 chromosomal pairs of the swine karyotype are resolved into 18 peaks denoted A to Q and Y by dual-beam flow cytometry. The chromosomal content of six peaks has previously been determined by analyzing male/female differences, karyotypes of animals carrying translocations, and PCR studies of genes with known assig...

journal_title：Genomics

authors： Yerle M,Schmitz A,Milan D,Chaput B,Monteagudo L,Vaiman M,Frelat G,Gellin J

更新日期：1993-04-01 00:00:00

abstract：:Prostaglandin EP3 receptor subtype is a seven-membrane-spanning protein with multiple C-terminal tails generated by alternative mRNA splicing. We report here the structural organization of the human EP3 gene (PTGER3). The human EP3 gene spanned more than 80 kb and was composed of 10 exons separated by nine introns. Ex...

journal_title：Genomics

authors： Kotani M,Tanaka I,Ogawa Y,Usui T,Tamura N,Mori K,Narumiya S,Yoshimi T,Nakao K

更新日期：1997-03-15 00:00:00

abstract：:Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes...

journal_title：Genomics

authors： Greenspan DS,Byers MG,Eddy RL,Cheng W,Jani-Sait S,Shows TB

更新日期：1992-04-01 00:00:00

abstract：:The human homologs of the mouse homeo box-containing genes, En-1 and En-2, which show homology to the Drosophila engrailed gene, have been isolated. The human EN1 gene was mapped to chromosome 2 by analysis of mouse-human somatic cell hybrids. The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis o...

journal_title：Genomics

authors： Logan C,Willard HF,Rommens JM,Joyner AL

更新日期：1989-02-01 00:00:00

abstract：BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...

journal_title：Genomics

authors： Gao B,Baudis M

更新日期：2020-09-01 00:00:00

abstract：:Omitting 1137 loci that are included in the location database but have only cytogenetic assignment, there are 605 loci in the integrated map that synthesizes physical and genetic data and subsumes a composite physical location, cytogenetic and regional assignments, mouse homology, rank, and references. With error filt...

journal_title：Genomics

authors： Wang LH,Collins A,Lawrence S,Keats BJ,Morton NE

更新日期：1994-08-01 00:00:00

abstract：:We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory factor-1, colony-stimulating factor-2, and T-cell transcription factor-7) on 5q31 and the gene encoding the interleukin-4 recept...

journal_title：Genomics

authors： Kauppi P,Lindblad-Toh K,Sevon P,Toivonen HT,Rioux JD,Villapakkam A,Laitinen LA,Hudson TJ,Kere J,Laitinen T

更新日期：2001-09-01 00:00:00

abstract：:Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...

journal_title：Genomics

authors： McElreavey KD,Vilain E,Boucekkine C,Vidaud M,Jaubert F,Richaud F,Fellous M

更新日期：1992-07-01 00:00:00

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrop...

journal_title：Genomics

authors： Harris PC,Thomas S,MacCarthy AB,Stallings RL,Breuning MH,Jenne DE,Fink TM,Buckle VJ,Ratcliffe PJ,Ward CJ

更新日期：1994-09-15 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：:Bfp (brain finger protein) is a member of the RING finger protein family, which is highly expressed in the brain. We have previously shown that one copy of the human bfp gene, mapped at 17p11.2, was actually deleted in six of six Smith-Magenis syndrome (SMS) patients. Now we have isolated the mouse bfp cDNA. Using in ...

journal_title：Genomics

authors： Orimo A,Inoue S,Ikeda K,Sato M,Kato A,Tominaga N,Suzuki M,Noda T,Watanabe M,Muramatsu M

更新日期：1998-11-15 00:00:00

abstract：:The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...

journal_title：Genomics

authors： Koshizuka Y,Ikegawa S,Sano M,Nakamura K,Nakamura Y

更新日期：2001-03-15 00:00:00

abstract：:The genes encoding receptors for the chemotactic ligands C5a (C5AR) and FMLP (FPR) were mapped using a panel of somatic cell hybrids to chromosome 19. Because the hybridization pattern on Southern analysis suggested an intron structure or related genes in the case of FPR, genomic clones were characterized. Two structu...

journal_title：Genomics

authors： Bao L,Gerard NP,Eddy RL Jr,Shows TB,Gerard C

更新日期：1992-06-01 00:00:00

abstract：:The ability to utilize formalin-fixed, paraffin-embedded (FFPE) archival specimens reliably for high-resolution molecular genetic analysis would be of immense practical application in the study of human disease. We have evaluated the ability of the GenomePlex whole genome amplification (WGA) kit to amplify frozen and ...

journal_title：Genomics

authors： Little SE,Vuononvirta R,Reis-Filho JS,Natrajan R,Iravani M,Fenwick K,Mackay A,Ashworth A,Pritchard-Jones K,Jones C

更新日期：2006-02-01 00:00:00

abstract：:We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...

journal_title：Genomics

authors： Borsani G,Rugarli EI,Taglialatela M,Wong C,Ballabio A

更新日期：1995-05-01 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