Showing papers in "Genomics in 2002"

TL;DR: In this paper, the authors proposed a new method for approximate Bayesian statistical inference on the basis of summary statistics, which is suited to complex problems that arise in population genetics, extending ideas developed in this setting by earlier authors.

TL;DR: Tissue-specific expression of these genes in a variety of cell lines, along with other evidence, suggests a role for these enzymes in growth or cell cycle control, and similarity in amino acid sequence with APOBEC1, conserved intron/exon organization, tissue- specific expression, homodimerization, and zinc and RNA binding similar to APOB EC1 is concluded.

TL;DR: With the recent publications of the complete human genomesequence there is an estimated total of 26,000–40,000 genes, as suggested by the International Human Genome Sequencing Consortium and Venter.

TL;DR: An automated routine, called Onto-Express, is implemented, to systematically translate genetic fingerprints into functional profiles that fundamentally increase the value of gene expression analyses by facilitating the translation of quantitative value sets to records that contain biological implications.

TL;DR: It is demonstrated that maternal methylation imprints on at least one imprinted gene, Snrpn, are established during the postnatal growth phase of oogenesis, which raises the possibility that assisted reproductive technologies that involve in vitro maturation of oocytes may result in developmental abnormalities due to incomplete methylated imprints in immature oocytes.

TL;DR: The multigene family encoding the five classes of replication-dependent histones has been identified from the human and mouse genome sequence, and the complexity of the histone protein complement significantly greater than previously thought.

TL;DR: Using a denser chromosome 20 marker map and exploiting linkage disequilibrium using two distinct approaches, strong evidence is provided that a chromosome segment including the gene coding for the growth hormone receptor accounts for at least part of the chromosome 20 QTL effect.

TL;DR: The identification of magic roundabout shows that the roundabout gene family extends beyond neuronal tissue and that roundabout/slit interactions are likely to have a role in angiogenesis.

TL;DR: It is shown that Drosophila melanogaster and Caenorhabditis elegans express a single gene encoding only an alpha-neurexin, whereas humans and mice express three genes, each of which encodes alpha- and beta-neurxins transcribed from separate promoters.

TL;DR: A novel CPT1 family member whose mRNA is present predominantly in brain and testis is described, whose protein sequence contains all the residues known to be important for both carnitine acyltransferase activity and malonyl-CoA binding in other family members.

TL;DR: The homology, expression profile, and functional similarity of the receptors in the dog, ferret, and rhesus to that of human support the potential use of these species as preclinical animal models in the development of therapeutic agents for obesity or other MCH-mediated disorders.

TL;DR: Analysis of the hundreds of cESTs suggests that the L1 ASP-driven transcription is a common phenomenon not only for tumor cells but also for normal ones and may involve transcriptional interference or epigenetic control of different cellular genes.

TL;DR: The recognition that a characteristic muscle-specific mutant phenotype in the fly results from a disruption of its nesprin ortholog reinforces the candidacy of the human proteins for involvement in genetic diseases of skeletal and cardiac muscle.

TL;DR: Six novel genes encoding proteins with the interleukin (IL)-1 fold have been identified recently, allowing determination of the gene structures, precise localization of exons, and determination of distances between conventional SNP and microsatellite markers.

TL;DR: A novel measure of dispersion is derived in two-way comparisons, using a linear characteristic function, which implies that, in experiments in which samples from different subjects are used, the variation induced by the stimulus may be masked by non-stimuli-related differences in the subjects' biological state.

TL;DR: Although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here, and DNA sequence analysis of autism subjects and controls revealed 22 biallelic polymorphic sites.

TL;DR: The complete nucleotide sequence of all three human neurexin genes is determined and several conserved intronic sequence elements that may participate in the regulation of alternative splicing are identified.

TL;DR: Human RAET1 products are all devoid of the membrane-proximal immunoglobulin-like alpha3 domain and most, but not all, are predicted to remain membrane-anchored via glycosylphosphatidylinositol linkage and are shown to display an atypical pattern of polymorphism.

TL;DR: The identification and characterization of a novel cytokine-like gene family using structure-based methods to search for novel four-helix-bundle cytokines in genomics databases is reported, and it is found that FAM3A and FAM3B protein were both localized to the islets of Langerhans of the endocrine pancreas.

TL;DR: The multiple duplications of GLUT genes suggest that the GLUT family probably emerged by gene duplications and mutations during evolution in different lineages.

TL;DR: The results show that the APOL1-APOL4 cluster might contribute to the substantial differences in the lipid metabolism of humans and mice, as dictated by the variable expression of genes involved in this process.

TL;DR: Analysis by fluorescence in situ hybridization of the integration sites of the 142 EGFP transgenic lines that were produced showed that the transgenes had become incorporated into every mouse chromosome.

TL;DR: The order, orientation, and intergenic distance of the nine IL-1 family genes that lie on human chromosome 2 are determined and the order and orientation of the mouse genes have been mapped, and the mouse locus compared with the human locus.

TL;DR: Using a BLAST approach, 1105 DNA sequences homologous to mitochondrial DNA (mtDNA) in the August 2001 Goldenpath human genome database are found and assembled manually into 286 pseudogenes on the basis of single insertion events and a chromosomal map of these Numts is constructed.

TL;DR: A collection of proteins identified are structurally unique compared to known ZIP members and they also possess the hallmark of Zn-metalloproteases, suggesting a new class of multi-TM protein with dual features.

TL;DR: It is shown here that the 4q homology on chromosome 10 is not confined to the 3.3-kb repeats but extends both proximally and distally to include the telomere, which may represent a relatively common subtelomeric domain.

TL;DR: The Ttn(mdm) mutant mouse may serve as a model for human tibial muscular dystrophy, which maps to the TTN locus at 2q31 and shows a secondary reduction of CAPN3 similar to that observed in mdm skeletal muscle.

TL;DR: In this article, the structure of the human T-type amino acid transporter-1 (TAT1) cDNA and gene (SLC16A10) was determined.

TL;DR: It is demonstrated that RCA using random hexamer primers with 29 DNA polymerase can be used for strand-displacement amplification of different vector constructs containing a variety of insert sizes to produce consistently uniform template for end-sequencing reactions.

TL;DR: Identification of an RPGR mutation in atrophic maculardegeneration expands the phenotypic range associated with this gene and provides a new tool for the dissection of the relationship between clinically different retinal pathologies.