Abstract:
:The chromosomal band 17p11.2 is associated with a number of neurological disorders and malignant diseases. This region is also characterized by the presence of complex repeat elements that are probably responsible for the frequent occurrence of interstitial deletions, duplications, and isochromosome formation. In the course of the molecular analysis of this interval, an integrated map with YACs, PACs, and cosmids covering approximately 6 Mb was established. Focusing on the 1.4-Mb interval containing the Smith-Magenis syndrome critical region and the breakpoint region for medulloblastomas, we constructed a detailed transcript map between the marker PS2 and the proximal CMT1A repeat. FISH analysis of the PACs allowed determination of the position of the transcripts with respect to the SMS critical region and the presumptive chromosomal breakpoint in medulloblastomas. One PAC (G21100) provided evidence for the presence of a novel complex repeat unit, indicating that there are at least three independent repeat elements within 2 Mb. Five genes were mapped to clone G21100 and are likely to form part of this novel complex sequence repeat. In summary, 53 new transcripts were isolated by using cDNA selection and exon trapping. This included 8 known but previously unmapped genes and 45 novel transcripts. The expression profile of 21 transcripts was determined by RT-PCR. Based on their homologies to known genes or proteins, some of the novel genes are considered candidate genes either for malignant diseases or for the Smith-Magenis syndrome.
journal_name
Genomicsjournal_title
Genomicsauthors
Seranski P,Heiss NS,Dhorne-Pollet S,Radelof U,Korn B,Hennig S,Backes E,Schmidt S,Wiemann S,Schwarz CE,Lehrach H,Poustka Adoi
10.1006/geno.1998.5647subject
Has Abstractpub_date
1999-02-15 00:00:00pages
1-11issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(98)95647-6journal_volume
56pub_type
杂志文章相关文献
GENOMICS文献大全abstract::The chromosomal locations of mouse DNA sequences homologous to a feline cDNA clone encoding glutamic acid decarboxylase (GAD) were determined. Although cats and humans are thought to have only one gene for GAD, GAD cDNA sequences hybridize to two distinct chromosomal loci in the mouse, chromosomes 2 and 10. The chromo...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90455-4
更新日期:1990-01-01 00:00:00
abstract::As the exponential growth of DNA sequence information in databases continues, the task of converting this deposited information into knowledge becomes more dependent on integrative sequence analysis and visualization tools. PANORAMA is an Internet-accessible software package that performs a variety of informatics anal...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6359
更新日期:2000-12-15 00:00:00
abstract::Receptors for cholcystokinin (CCK) can be pharmacologically classified into at least two distinct subtypes, CCKAR and CCKBR. In an effort to determine whether the CCKA and CCKB receptors may be associated with certain CNS or gastrointestinal diseases, we have localized and compared the human and mouse chromosomal loci...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(95)80018-h
更新日期:1995-02-10 00:00:00
abstract::We have produced three lines of transgenic mice that contain additional copies of the mouse phosphoglycerate kinase 1 (Pgk1) gene. Two of these lines, 94-A and 94-K, which are descendants of a common founder, did not produce liveborn progeny carrying two copies of these transgenes (i.e., A/A, K/K, or A/K). Genotyping ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1274
更新日期:1995-12-10 00:00:00
abstract::Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes, and thus methylation assays are widely used to support the identifi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6502
更新日期:2001-04-01 00:00:00
abstract::The class II region of the human major histocompatibility complex (HLA) is made up of three major subregions designated DR, DQ, and DP. With the aim of gaining an insight into the evolution and stability of DR haplotypes, a total of 63 cosmid clones were isolated from the DR subregion (Gogo-DR) of a western lowland go...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80224-1
更新日期:1992-10-01 00:00:00
abstract::GPC3, the gene modified in the Simpson-Golabi-Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5' of the translational start site. The Xq26.1 region containing GPC3 as the only known gene has been extended to > 900 kb by sequence a...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4916
更新日期:1997-10-01 00:00:00
abstract::Myeloproliferative disorders frequently show deletions or rearrangements of the long arm of chromosome 13. We report here the cloning of RNF6, a new gene that maps close to the chromosome 13 breakpoint in a case of myelofibrosis with a t(4;13)(q26;q12). RNF6 is predicted to encode a 685-amino-acid protein with a coile...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5802
更新日期:1999-05-15 00:00:00
abstract::The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1491
更新日期:1993-11-01 00:00:00
abstract::We describe an improved method for construction of yeast artificial-chromosome (YAC) libraries that contain large inserts of foreign DNA. The procedure consists of seven steps: (i) preparation of human DNA in agarose beads; (ii) partial digestion of the DNA with EcoRI; (iii) electrophoretic elimination of the smaller ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90285-3
更新日期:1990-10-01 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
pub_type: 杂志文章
doi:10.1016/0888-7543(95)80036-l
更新日期:1995-01-20 00:00:00
abstract::We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90446-l
更新日期:1991-07-01 00:00:00
abstract::In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas th...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90025-6
更新日期:1989-10-01 00:00:00
abstract::Protein sequences were compared among Arabidopsis, Oryza and Populus to identify differential gene (DG) sets that are in one but not the other two genomes. The DG sets were screened against a plant transcript database, the NR protein database and six newly-sequenced genomes (Carica, Glycine, Medicago, Sorghum, Vitis a...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2009.01.002
更新日期:2009-05-01 00:00:00
abstract::The transcriptional organization of the region of the mouse X chromosome between the G6pd and the Fln1 genes was studied in detail, and it was compared with the syntenic region of the human chromosome. A cosmid contig of 250 kb was constructed by screening mouse cosmid libraries with probes for human genes and with wh...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1164
更新日期:1995-08-10 00:00:00
abstract::In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leuc...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2012.01.006
更新日期:2012-04-01 00:00:00
abstract::Na(+)-coupled HCO(3)(-) transporters (NCBTs) of the SLC4 family play critical roles in pH regulation as well as transepithelial HCO(3)(-) transport. We systematically examined, in the mouse reproductive tract tissues, the mRNA expression of five NCBTs as well as the five NBCe1 (Slc4a4) variants NBCe1-A through -E, of ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2011.04.010
更新日期:2011-08-01 00:00:00
abstract::Type XI collagen, a minor structural component of cartilage fibrils, is composed of three chains, alpha 1(XI), alpha 2(XI), and alpha 3(XI). Using a cloned fragment of the human alpha 2(XI) collagen gene (COL11A2) as a molecular probe for in situ hybridization and somatic cell hybrid mapping, we have localized the gen...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(89)90135-3
更新日期:1989-11-01 00:00:00
abstract::In the present study, we have constructed an interaction network of 29 antibiotic resistant genes along with 777 interactions in E. coli O157:H7. Gene ontology analysis reveals that 94, 89 and 67 genes have roles in the cellular process, biological process and molecular function respectively. Gene complexes related to...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2018.06.002
更新日期:2019-07-01 00:00:00
abstract::The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6367
更新日期:2000-11-15 00:00:00
abstract::The identification of noncoding functional elements within vertebrate genomes, such as those that regulate gene expression, is a major challenge. Comparisons of orthologous sequences from multiple species are effective at detecting highly conserved regions and can reveal potential regulatory sequences. The GDF6 gene c...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2005.05.003
更新日期:2005-09-01 00:00:00
abstract::Human genomic mapping has been greatly advanced by the independent development of three new methods: large DNA fragment cloning in yeast artificial chromosomes, amplification from complex DNAs of human specific segments by Alu-PCR, and high-resolution localization of complex DNA probes by fluorescent in situ hybridiza...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(92)90148-l
更新日期:1992-07-01 00:00:00
abstract::The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5055
更新日期:1997-12-15 00:00:00
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...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5711
更新日期:1999-04-01 00:00:00
abstract::Flowering is a prerequisite for pear fruit production. Therefore, the development of flower buds and the control of flowering time are important for pear trees. However, the molecular mechanism of pear flowering is unclear. SOC1, a member of MADS-box family, is known as a flowering signal integrator in Arabidopsis. We...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.09.011
更新日期:2020-03-01 00:00:00
abstract::A contig of 20 yeast artificial clones (YACs) has been assembled across 1.5 Mb of Xq28 and formatted with nine previously reported probes and nine STSs developed from the sequence of probes and end fragments of YACs. YAC end fragments were obtained by subcloning, Alu-vector PCR, or primer-ligation PCR methods. Eightee...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1234
更新日期:1993-06-01 00:00:00
abstract::A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint li...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1302
更新日期:1993-07-01 00:00:00
abstract::Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2006.06.016
更新日期:2006-12-01 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
pub_type: 杂志文章
doi:10.1006/geno.1997.5149
更新日期:1998-02-15 00:00:00
abstract::The molecular mechanism involved in BmNPV resistance was investigated using a genome wide microarray in midgut tissue of Indian silkworm Bombyx mori. In resistant race (Sarupat), 735 genes up-regulated and 589 genes down-regulated at 12 h post BmNPV infection. Similarly, in case of susceptible race (CSR-2), 2183 genes...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2015.09.002
更新日期:2015-12-01 00:00:00