The human growth hormone locus: nucleotide sequence, biology, and evolution.

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：:CircRNA is a specific type of non-coding RNA that has been shown to have an important role in mammary gland (MG) activity, but no study of MG circRNA activity in sheep so far. In this study, the expression profile of circRNAs was investigated using RNA-Seq in MG parenchyma at peak lactation from Small-Tailed Han sheep...

journal_title：Genomics

authors： Hao Z,Zhou H,Hickford JGH,Gong H,Wang J,Hu J,Liu X,Li S,Zhao M,Luo Y

更新日期：2020-05-01 00:00:00

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 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：:A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...

journal_title：Genomics

authors： Hughes JF,Coffin JM

更新日期：2002-11-01 00:00:00

abstract：:Mutations in the mouse dreher (dr) gene cause skeletal defects, hyperactivity, abnormal gait, deafness, white belly spotting, and hypoplasia of Müllerian duct derivatives. To map dr to high resolution, we utilized two crosses. Initially, we analyzed an intersubspecific intercross to construct a detailed genetic map of...

journal_title：Genomics

authors： Bergstrom DE,Gagnon LH,Eicher EM

更新日期：1999-08-01 00:00:00

abstract：:Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify gene...

journal_title：Genomics

authors： Zucchi I,Jones J,Affer M,Montagna C,Redolfi E,Susani L,Vezzoni P,Parvari R,Schlessinger D,Whyte MP,Mumm S

更新日期：1999-04-15 00:00:00

abstract：:The promoter/5' flank sequence, cDNA sequence, and exon/intron structures of the human thrombospondin 3 (THBS3) gene have been determined. THBS3 cDNA clones were obtained by PCR amplification of human fetal lung cDNA using THBS3-specific primers. Analysis of cDNA and genomic sequences showed the THBS3 gene to be compo...

journal_title：Genomics

authors： Adolph KW,Long GL,Winfield S,Ginns EI,Bornstein P

更新日期：1995-05-20 00:00:00

abstract：:Spt3 is a Saccharomyces cerevisiae transcription factor that is required in vivo for the transcription of a number of RNA polymerase II-transcribed genes. We report the cloning of the gene encoding the human homologue of Spt3, SUPT3H, and its initial functional analysis. The human and yeast Spt3 homologues share an ov...

journal_title：Genomics

authors： Yu J,Madison JM,Mundlos S,Winston F,Olsen BR

更新日期：1998-10-01 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：:Brachyuran crabs comprise the most species-rich clade among the crustacean order Decapoda and are divided into several major superfamilies. However, the monophyly of the superfamilies Ocypodoidea and Grapsoidea in their current compositions within the Brachyura remains inconclusive. In this study, the complete mitocho...

journal_title：Genomics

authors： Wang Z,Shi X,Guo H,Tang D,Bai Y,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:SCG10 is a neuronal growth-associated protein that shares an amino acid sequence similarity with an 18- to 19-kDa phosphoprotein named stathmin (also called p19, p18, Op18, pp17, prosolin, pp20, 19K, and leukemia-associated phosphoprotein, Lap18), which is more broadly expressed in a variety of cell types of the neura...

journal_title：Genomics

authors： Okazaki T,Yoshida BN,Avraham KB,Wang H,Wuenschell CW,Jenkins NA,Copeland NG,Anderson DJ,Mori N

更新日期：1993-11-01 00:00:00

abstract：:We have identified a gene at chromosome band 19q13.1, which is closely related to MLL. MLL is located in a region of chromosome 11q23 that has partial synteny with chromosome 19q. We have named this gene at 19q13.1, MLL2. MLL2 encodes a protein that exhibits a high level of similarity to MLL over several important pro...

journal_title：Genomics

authors： FitzGerald KT,Diaz MO

更新日期：1999-07-15 00:00:00

abstract：:3',5'-Cyclic guanosine monophosphate is the intracellular second messenger regulating phototransduction in mammals. The level of cGMP in photoreceptor cells is controlled by the cGMP-hydrolyzing enzyme cGMP phosphodiesterase and the cGMP-producing enzyme guanylate cyclase. Identification of a photoreceptor-specific gu...

journal_title：Genomics

authors： Oliveira L,Miniou P,Viegas-Pequignot E,Rozet JM,Dollfus H,Pittler SJ

更新日期：1994-07-15 00:00:00

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...

journal_title：Genomics

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

abstract：:Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...

journal_title：Genomics

authors： Padilla CA,Bajalica S,Lagercrantz J,Holmgren A

更新日期：1996-03-15 00:00:00

abstract：:More than 500 backcross progeny from four intersubspecific backcrosses were typed for six markers on distal mouse chromosome 16. Five of these represented genes that mapped within the Sod-1 to Ets-2 interval, which was shown previously to contain the weaver (wv) gene. The map order, including previously mapped referen...

journal_title：Genomics

authors： Mjaatvedt AE,Citron MP,Reeves RH

更新日期：1993-08-01 00:00:00

abstract：:The Alu repeat sequence is estimated to account for 5% of human genomic DNA. The precise relationship of Alu sequences to human fully spliced cDNA has yet to be determined, although many new protocols for cloning cDNAs either depend on the presence of Alus or--more usually--rely on their absence in a population of mes...

journal_title：Genomics

authors： Yulug IG,Yulug A,Fisher EM

更新日期：1995-06-10 00:00:00

abstract：:The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. A cDNA probe for Southern blot hybridization and diagnostic PCR analyses of hybrid clone panels informative for human chromosomes in general and portions of chromosome 3 ...

journal_title：Genomics

authors： Legerski RJ,Liu P,Li L,Peterson CA,Zhao Y,Leach RJ,Naylor SL,Siciliano MJ

更新日期：1994-05-01 00:00:00

abstract：:Isozyme and restriction fragment length polymorphism (RFLP) analyses of backcross progeny, recombinant inbred strains, and congenic strains of mice positioned eight genetic markers with respect to the Lsh-Ity-Bcg disease resistance locus. Allelic isoforms of Idh-1 and Pep-3 and RFLPs detected by Southern hybridization...

journal_title：Genomics

authors： Mock B,Krall M,Blackwell J,O'Brien A,Schurr E,Gros P,Skamene E,Potter M

更新日期：1990-05-01 00:00:00

abstract：:The beclin 1 (BECN1) gene encodes a 60-kDa coiled-coil protein that interacts with the prototypic apoptosis inhibitor Bcl-2. Previous studies indicate that beclin 1 maps to a region approximately 150 kb centromeric to BRCA1 on chromosome 17q21 that is commonly deleted in breast, ovarian, and prostate cancer. The compl...

journal_title：Genomics

authors： Aita VM,Liang XH,Murty VV,Pincus DL,Yu W,Cayanis E,Kalachikov S,Gilliam TC,Levine B

更新日期：1999-07-01 00:00:00

abstract：:We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF252...

journal_title：Genomics

authors： White MB,Krueger LJ,Holsclaw DS Jr,Gerrard BC,Stewart C,Quittell L,Dolganov G,Baranov V,Ivaschenko T,Kapronov NI

更新日期：1991-05-01 00:00:00

abstract：:Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID pati...

journal_title：Genomics

authors： Riedy MC,Dutra AS,Blake TB,Modi W,Lal BK,Davis J,Bosse A,O'Shea JJ,Johnston JA

更新日期：1996-10-01 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：:Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence...

journal_title：Genomics

authors： Kwok PY,Deng Q,Zakeri H,Taylor SL,Nickerson DA

更新日期：1996-01-01 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:A rapid multiplexed fingerprinting method has been developed for bacterial artificial chromosome (BAC) contig assembly. Defined subsets of BAC DNA fragments that result from digestion by three paired restriction endonucleases are labeled with unique fluorescent F-ddATP for each subset. Lists of the labeled fragment si...

journal_title：Genomics

authors： Ding Y,Johnson MD,Colayco R,Chen YJ,Melnyk J,Schmitt H,Shizuya H

更新日期：1999-03-15 00:00:00

abstract：:The gene for mouse transition protein 1 (mTP1) was isolated, sequenced, and chromosomally mapped. The nucleotide sequence of 1895 bp of a 6.4-kb mTP1 genomic subclone was determined to include 788 bp of 5' flanking region, 564 bp of coding region including a 396-bp intron and a TAA stop codon, and 543 bp of 3' flankin...

journal_title：Genomics

authors： Yelick PC,Kozak C,Kwon YK,Seldin MF,Hecht NB

更新日期：1991-11-01 00:00:00

abstract：:By searching the Expressed Sequence Tag database, a full-length cDNA for a novel human CC chemokine was cloned. This cDNA encoded a 94-amino-acid protein with a putative signal peptide of 26 amino acids. The deduced mature protein had the four conserved cysteine residues characteristic of CC chemokines and showed 44% ...

journal_title：Genomics

authors： Guo RF,Ward PA,Hu SM,McDuffie JE,Huber-Lang M,Shi MM

更新日期：1999-06-15 00:00:00

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00