Abstract:
:Using a slot-blot method for the dosage of single-copy sequences, the copy numbers of 30 chromosome 21 markers were assessed in the blood DNA of 11 patients with partial trisomy or monosomy 21 and in the DNA of a patient-derived human-hamster hybrid cell line carrying a microduplication of chromosome 21. The physical order of these markers on chromosome 21 was thereby determined.
journal_name
Genomicsjournal_title
Genomicsauthors
Delabar JM,Chettouh Z,Rahmani Z,Theophile D,Blouin JL,Bono R,Kraus J,Barton J,Patterson D,Sinet PMdoi
10.1016/0888-7543(92)90177-tsubject
Has Abstractpub_date
1992-07-01 00:00:00pages
887-9issue
3eissn
0888-7543issn
1089-8646pii
0888-7543(92)90177-Tjournal_volume
13pub_type
杂志文章相关文献
GENOMICS文献大全abstract::The yeast RAD52-dependent pathway is involved in DNA recombination and double-strand break repair. Yeast ubiquitin-conjugating enzyme UBC9 participates in S- and M-phase cyclin degradation and mitotic control. Using the human RAD52 protein as the "bait" in a yeast two-hybrid system, we have identified a human homolog ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0540
更新日期:1996-10-15 00:00:00
abstract::Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2004.08.013
更新日期:2004-12-01 00:00:00
abstract::Chromosomal region 1p36.2 harbors an intriguing gene cluster of about 1 Mb. In addition to normal high-copy-number repeats, this cluster consists entirely of locally repeated sequences among which there are tRNA and small nuclear RNA (snRNA) genes. In 23 PACs and YACs from the 1p36.2 cluster, we identified eight diffe...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5972
更新日期:1999-11-15 00:00:00
abstract::Neurturin is a potent neurotrophic factor closely related to glial cell line-derived neurotrophic factor (GDNF, 40% amino acid sequence identity) and, like GDNF, can promote the survival of numerous neuronal populations including sympathetic, nodose, and dorsal root ganglion sensory neurons. Both neurturin and GDNF si...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4846
更新日期:1997-08-15 00:00:00
abstract::An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22. Isolation and sequencing of cDNA clones corresponding to this exon revealed extensive similarity of the predicted amino acid sequence of this gene product to ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0386
更新日期:1996-08-01 00:00:00
abstract::LRP1B is a novel candidate tumor suppressor gene that is inactivated by genetic and transcript alterations in nearly 50% of non-small-cell lung cancer cell lines. The gene-encoded protein is highly homologous to the gigantic lipoprotein receptor-related protein 1 (LRP1) that belongs to the family of low-density lipopr...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6331
更新日期:2000-10-15 00:00:00
abstract::In humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2007.03.014
更新日期:2007-07-01 00:00:00
abstract::We have isolated cDNA clones that code for human cytochrome b5. Owing to the high degree of evolutionary conservation of cytochrome b5 sequences and the existence of human and rodent cytochrome b5 processed pseudogenes, we were unable to map unambiguously the chromosomal localization of the human gene(s) by Southern b...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90136-3
更新日期:1991-10-01 00:00:00
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...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.005
更新日期:2020-11-01 00:00:00
abstract::Identifying physiological and transcriptomic changes can provide insights into the effects of drier air humidity stress on plants. In this study, we selected 6-month-old seedlings of Pterocarya stenoptera as study materials and used physiological index detection and transcriptome sequencing to investigate the adaptati...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.09.027
更新日期:2020-11-01 00:00:00
abstract::A novel gene, TEGT (testis enhanced gene transcript), has been identified in humans. It does not belong to any known gene family of vertebrates. The deduced amino acid sequence of the gene and a bacterial protein of unknown function show low but significant homology and very similar hydrophobicity profiles. Two differ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1145
更新日期:1995-07-20 00:00:00
abstract::We report a comparative map of canine chromosome 1 (CFA1) incorporating single nucleotide polymorphisms (SNPs) and insertion/deletion (indel) polymorphisms, developed by using cross-species primers, radiation hybrid analysis, and pool-and-sequence identification of genetic variations. Fifty-five genes were chosen with...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2004.04.001
更新日期:2004-08-01 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::TM4SF11 is only 102 kb from the chemokine gene cluster composed of SCYA22, SCYD1, and SCYA17 on chromosome 16q13. CKLF maps on chromosome 16q22. CKLFs have some characteristics associated with the CCL22/MDC, CX3CL1/fractalkine, CCL17/TARC, and TM4SF proteins. Bioinformatics based on CKLF2 cDNA and protein sequences in...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(03)00095-8
更新日期:2003-06-01 00:00:00
abstract::4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1540
更新日期:1994-10-01 00:00:00
abstract::Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. Marfan syndrome has a variable phenotype, even within families carrying the same FBN1 mutation. Differences in gene expression resulting from sequence differences in the ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2009.06.005
更新日期:2009-10-01 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::We analyzed the whole genomes of cecum microbiomes of Ethiopian indigenous chickens from two distinct geographical zones: Afar (AF) district (Dulecha, 730 m above sea level) and Amhara (AM) district (Menz Gera Midir, 3300 m). Through metagenomic analysis we found that microbial populations were mainly dominated by Bac...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.11.011
更新日期:2020-03-01 00:00:00
abstract::The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1668
更新日期:1994-12-01 00:00:00
abstract::To resolve a candidate chromosome region on the middle part of bovine chromosome 6 (BTA6) containing several different quantitative trait locus (QTL) intervals, we constructed a high-resolution, integrated, comprehensive, and comparative map using a 12,000-rad, whole-genome, cattle-hamster radiation hybrid (RH) panel....
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6778
更新日期:2002-06-01 00:00:00
abstract::DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90443-x
更新日期:1990-01-01 00:00:00
abstract::A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90477-c
更新日期:1990-03-01 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
pub_type: 杂志文章
doi:10.1006/geno.1998.5383
更新日期:1998-08-01 00:00:00
abstract::The human gene encoding the muscle-specific beta-enolase has been isolated. The beta-enolase gene was mapped to chromosome 17 by analysis of a panel of rodent-human somatic cell hybrids. The gene was further localized to the short arm and tentatively to the region 17pter-p11 by analysis of cell hybrids and transfectan...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(90)90467-9
更新日期:1990-01-01 00:00:00
abstract::Thirty-eight kilobases of mouse genomic DNA which surround and include the coding sequences for beta-glucuronidase has been mapped. Intron-exon arrangements were determined by hybridization of genomic sequences with cDNA clones, and minimum estimates of gene length (11-17 kb) and intron number were obtained. Only a si...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(88)90105-x
更新日期:1988-01-01 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
pub_type: 杂志文章
doi:10.1006/geno.1997.5139
更新日期:1998-02-01 00:00:00
abstract::Variation at MHC Class II-DQA locus in riverine and swamp buffaloes (Bubu) has been explored in this study. Through sequencing of buffalo DQA, 48 nucleotide variants identified from 17 individuals, reporting 42 novel alleles, including one pseudogene. Individual animal displayed two to seven variants, suggesting the p...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2020.07.041
更新日期:2020-11-01 00:00:00
abstract::A cDNA encoding the human GABAA receptor beta 3 subunit has been isolated from a brain cDNA library and its nucleotide sequence has been determined. This gene, GABRB3, has recently been mapped to human chromosome 15q11q13, the region deleted in Angelman and Prader-Willi syndromes. The association of distinct phenotype...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(91)90034-c
更新日期:1991-12-01 00:00:00
abstract::Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0267
更新日期:1996-06-01 00:00:00
abstract::There is a high level of conservation between human chromosomes and bovine syntenic groups. One such comparison is between human chromosome 12 and bovine chromosome 5, where at least 16 loci have been shown to be conserved in an homologous segment. However, the degree of conservation of order of the loci on bovine chr...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80280-0
更新日期:1992-09-01 00:00:00