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 procedure suitable for cloning labile mRNAs that contain AU motifs is presented (AU-DD). These motifs are regulatory sequences within the so-called AU-rich elements (AREs) often found in 3' untranslated regions of genes such as cytokines, proto-oncogenes, and transcription factors. AU-DD is an AU-motif-directed diff...

journal_title：Genomics

authors： Dominguez O,Ashhab Y,Sabater L,Belloso E,Caro P,Pujol-Borrell R

更新日期：1998-12-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 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：:Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 int...

journal_title：Genomics

authors： Jones MH,Tirosvoutis KN,Bowgen C,Davey P,Moore S,Naylor S,Affara NA

更新日期：1998-11-01 00:00:00

abstract：:The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genes Bf and C4. RD, which codes for a putative RNA binding protein, is 205 bp downstream of Bf. SKI2W (HGMW-approved symbol SKIV2L), a DEVH-box gene probab...

journal_title：Genomics

authors： Yang Z,Shen L,Dangel AW,Wu LC,Yu CY

更新日期：1998-11-01 00:00:00

abstract：:We present evidence of linkage between markers on chromosome 12 and asthma using the BETA program for nonparametric single- and multipoint linkage analysis. We have used quantitative scores as our phenotypic variables, combining data into indices for asthma and atopy and maximizing heritability. The largest single-loc...

journal_title：Genomics

authors： Wilkinson J,Grimley S,Collins A,Thomas NS,Holgate ST,Morton N

更新日期：1998-11-01 00:00:00

abstract：:The human HYAL2 gene encodes a lysosomal hyaluronidase that is related to the testicular PH-20 hyaluronidase. Regions conserved in these proteins have been used to design PCR primers suitable for the isolation of a fragment of the murine Hyal2 gene. This fragment was used to isolate the Hyal2 cDNA from a cDNA library....

journal_title：Genomics

authors： Strobl B,Wechselberger C,Beier DR,Lepperdinger G

更新日期：1998-10-15 00:00:00

abstract：:We cloned and characterized a genomic DNA fragment including the deletion junction of a chronic granulomatous disease patient with a 25-kb deletion extending to the 5' two-thirds of CYBB. The 3' breakpoint of the deletion exists in exon 7 of CYBB. A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and t...

journal_title：Genomics

authors： Kumatori A,Faizunnessa NN,Suzuki S,Moriuchi T,Kurozumi H,Nakamura M

更新日期：1998-10-15 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：:Cystathionine beta-synthase [CBS; l-serine hydro-lyase (adding homocysteine), EC 4.2.1.22] catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical homocystinuria. In this report, we describe the molecular cloning and the complete nucleotide sequence of the human CBS gene. We rep...

journal_title：Genomics

authors： Kraus JP,Oliveriusová J,Sokolová J,Kraus E,Vlcek C,de Franchis R,Maclean KN,Bao L,Bukovsk,Patterson D,Paces V,Ansorge W,Kozich V

更新日期：1998-09-15 00:00:00

abstract：:Kinesins are a large superfamily of microtubule motors that mediate specific motile processes. In a previous study, we identified 11 kinesin family members in the retina and retinal pigment epithelium (RPE) of the striped bass, Morone saxatilus. We have now identified, cloned, and sequenced the human homologue (KIFC3)...

journal_title：Genomics

authors： Hoang EH,Whitehead JL,Dosé AC,Burnside B

更新日期：1998-09-01 00:00:00

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...

journal_title：Genomics

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

abstract：:Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditio...

journal_title：Genomics

authors： O'Donovan MC,Oefner PJ,Roberts SC,Austin J,Hoogendoorn B,Guy C,Speight G,Upadhyaya M,Sommer SS,McGuffin P

更新日期：1998-08-15 00:00:00

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....

journal_title：Genomics

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

abstract：:SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in limb bud development. We have isolated and described the human SLUG gene by sequencing a region spanning 4034 bp. The human SLUG gene contains three exons. The...

journal_title：Genomics

authors： Cohen ME,Yin M,Paznekas WA,Schertzer M,Wood S,Jabs EW

更新日期：1998-08-01 00:00:00

abstract：:In this study we describe a modification of the bisulfite genomic sequencing protocol that enables detection of methylation from as few as five diploid cells from preimplantation mouse embryos. We have used bisulfite genomic sequencing to study the methylation profile of the putative imprinting element upstream of the...

journal_title：Genomics

authors： Warnecke PM,Mann JR,Frommer M,Clark SJ

更新日期：1998-07-15 00:00:00

abstract：:The human formylpeptide receptor (FPR) gene cluster has three members: FPR1 and FPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, and FPRL2, whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Usin...

journal_title：Genomics

authors： Gao JL,Chen H,Filie JD,Kozak CA,Murphy PM

更新日期：1998-07-15 00:00:00

abstract：:To identify large proteins with an EGF-like-motif in a systematic manner, we developed a computer-assisted method called motif-trap screening. The method exploits 5'-end single-pass sequence data obtained from a pool of cDNAs whose sizes exceed 5 kb. Using this screening procedure, we were able to identify five known ...

journal_title：Genomics

authors： Nakayama M,Nakajima D,Nagase T,Nomura N,Seki N,Ohara O

更新日期：1998-07-01 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：:The human lymphoid cell activation antigen CD39 is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue of CD39L1 has been shown...

journal_title：Genomics

authors： Chadwick BP,Frischauf AM

更新日期：1998-06-15 00:00:00

abstract：:We completed a systematic survey of the human genome, conducted at an average resolution of 10 cM, for the identification of simple sequence tandem repeat polymorphisms (SSTRPs) that target new risk genes for Alzheimer disease (AD) by virtue of linkage disequilibrium. The efficiency of our association study was enhanc...

journal_title：Genomics

authors： Zubenko GS,Hughes HB,Stiffler JS,Hurtt MR,Kaplan BB

更新日期：1998-06-01 00:00:00

abstract：:Despite the increasing number of disorders known to result from trinucleotide repeat amplification, the molecular mechanism underlying these dynamic mutations is still unknown. In an attempt to create a mouse model for the CGG repeat instability seen in Fragile X syndrome, we constructed transgenes corresponding to FM...

journal_title：Genomics

authors： Lavedan C,Grabczyk E,Usdin K,Nussbaum RL

更新日期：1998-06-01 00:00:00

abstract：:Deletion of the long arm of chromosome 6 (6q) is one of the most common chromosomal abnormalities in human hematological malignancies. Two distinct regions of minimal deletion have been identified by loss of heterozygosity studies at 6q25 to 6q27 (RMD-1) and at 6q21 to 6q23 (RMD-2), suggesting the presence of one or m...

journal_title：Genomics

authors： Jackson A,Panayiotidis P,Foroni L

更新日期：1998-05-15 00:00:00

abstract：:We have isolated and examined the gene for the heart isoform of cytochrome c oxidase subunit VIIa (COX VIIa-H) in mouse, an isoform gene previously thought to be lacking in rodents. Interspecies amino acid comparisons indicate that mouse COX VIIa-H protein displays 82.5 and 70.9% identity with the bovine and human hea...

journal_title：Genomics

authors： Jaradat SA,Ko MS,Grossman LI

更新日期：1998-05-01 00:00:00

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...

journal_title：Genomics

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

更新日期：1998-05-01 00:00:00

abstract：:By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4 transporter, y+ system] member 4. The SLC7A4 cDNA is 2325 nt long and includes 78, 1911, and 336 nt in the 5' noncoding, coding, and 3'-noncoding regions, respe...

journal_title：Genomics

authors： Sperandeo MP,Borsani G,Incerti B,Zollo M,Rossi E,Zuffardi O,Castaldo P,Taglialatela M,Andria G,Sebastio G

更新日期：1998-04-15 00:00:00

abstract：:Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase-related protein family. Based on evidence from model systems, this protein appears to be critical for synaptogenesis, acting as a site-specific organizational center for integral membrane prot...

journal_title：Genomics

authors： Stathakis DG,Lee D,Bryant PJ

更新日期：1998-04-15 00:00:00

abstract：:Hes2 encodes a mammalian basic helix-loop-helix transcriptional repressor homologous to the products of Drosophila hairy and Enhancer of split. Here, we isolated and characterized the mouse Hes2 gene. This gene consists of four exons, and all the introns are located within the protein-coding region at positions homolo...

journal_title：Genomics

authors： Nishimura M,Isaka F,Ishibashi M,Tomita K,Tsuda H,Nakanishi S,Kageyama R

更新日期：1998-04-01 00:00:00

abstract：:A gene for autosomal recessive juvenile parkinsonism (ARJP; HGMW-approved symbol PARK2; MIM 600116) has recently been mapped to a 17-cM interval on chromosome 6q25.2-q27. We here report an inbred family with ARJP showing a perfect cosegregation with null allele for D6S305, which is a marker within the ARJP locus. We a...

journal_title：Genomics

authors： Matsumine H,Yamamura Y,Hattori N,Kobayashi T,Kitada T,Yoritaka A,Mizuno Y

更新日期：1998-04-01 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：:Retinitis pigmentosa (RP) is a heterogeneous genetic disorder with autosomal dominant, autosomal recessive, and X-linked forms. We previously mapped an additional arRP locus to chromosome 6p21 (RP14) in a single extended kinship from the Dominican Republic. Aided by a second linked RP pedigree from the same region of ...

journal_title：Genomics

authors： Banerjee P,Lewis CA,Kleyn PW,Shugart YY,Ross BM,Penchaszadeh GK,Ott J,Jacobson SG,Gilliam TC,Knowles JA

更新日期：1998-03-01 00:00:00

abstract：:Using the differential display technique, we isolated a cDNA clone encoding the human homolog of rat perilipin, a unique protein associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. The full cDNA contains an open reading frame of 1566 nucleotides encoding 522 amino acids and bear...

journal_title：Genomics

authors： Nishiu J,Tanaka T,Nakamura Y

更新日期：1998-03-01 00:00:00

abstract：:The transforming growth factor beta (TGF-beta) superfamily is a family of multifunctional cytokines that transduce signals via serine/threonine kinase receptors. Recent studies revealed that Mothers against dpp (Mad) in Drosophila and its homologs play important roles in the intracellular signal transduction of the se...

journal_title：Genomics

authors： Takenoshita S,Mogi A,Nagashima M,Yang K,Yagi K,Hanyu A,Nagamachi Y,Miyazono K,Hagiwara K

更新日期：1998-02-15 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：: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：:Despite antibiotic therapy and vaccination programs, microbial diseases continue to be the leading cause of morbidity and mortality worldwide. The genetic basis of the host response to infection is complex, and its understanding has been facilitated through the study of mouse models of human infectious diseases. Genet...

journal_title：Genomics

authors： Sebastiani G,Olien L,Gauthier S,Skamene E,Morgan K,Gros P,Malo D

更新日期：1998-01-15 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：:Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA he...

journal_title：Genomics

authors： Cheung VG,Nelson SF

更新日期：1998-01-01 00:00:00

abstract：:The human ubiquitin-homology domain protein PIC1 interacts with the acute promyelocytic leukemia protein PML, and both proteins form part of the large, nuclear, multiprotein complexes known as PML nuclear bodies. The normal punctate immunohistochemical staining pattern of these complexes is disrupted by viral infectio...

journal_title：Genomics

authors： Howe K,Williamson J,Boddy N,Sheer D,Freemont P,Solomon E

更新日期：1998-01-01 00:00:00