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The albino deletions identify at least seven functional intervals essential for pre- and postnatal development in the 6- to 10-cM region surrounding thealbino coat color(c = tyrosinase) locus on mouse chromosome 7. Thec 112K deletion identifies a putative thymus functional region not removed by the overlappingc 3H deletion. Cloning thec 3H proximal breakpoint provided a starting...
Double-minute chromosomes (DMs) amplify oncogenes in human tumors. The organization of genomic DNA in four independently isolated DMs amplifying the DHFR (dihydrofolate reductase) gene has been compared by mapping locations of CpG islands. When cleaved with methylation-sensitive rare-cutting restriction endonucleases, three hypomethylated GC-rich DNA sequences were frequently found in specific regions...
Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a proto-oncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both...
Previously, we reported the isolation of cDNA for human retina-specific amine oxidase (RAO) and the expression of RAO exclusively in retina. Bacterial artificial chromosome clones containing the human RAO gene (AOC2) were mapped to human chromosome 17q21 (Imamuraet al.,1997,Genomics40: 277–283). Here, we report the complete genomic structure of the RAO gene, including 5′ flanking sequence, and mRNA...
The recent spreading of a subtelomeric region at nine different human chromosome ends was characterized by a combination of segregation analyses, physical mapping, junction cloning, and FISH investigations. The events occurred very recently in human genome evolution as demonstrated by sequence analysis of different alleles and the single location of the ancestral site at chromosome 17qter in chimpanzee...
TheSGKprotein kinase is a novel member of the serine/threonine protein kinase family. Its corresponding gene belongs to the group of immediate-early genes.SGKtranscription is controlled by cell volume alterations in different cell lines. To analyze the genomic structure and chromosomal location of theSGKgene, a human P1 clone was isolated by screening a human genomic library with aSGKcDNA probe. This...
TheDrosophilagenedead ringer (dri)was isolated as a novel gene encoding a sequence-specific DNA-binding protein. DRI is a founding member of a growing protein family whose members share a conserved DNA binding domain termed the A/T-rich interaction domain.driis developmentally regulated, being expressed in a restricted set of cells including some neural cells and differentiating cells of the gut and...
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 mouseH19gene at several stages of embryonic development, including fertilized oocytes...
Mutations in theDrosophila melanogaster small optic lobes(sol) gene cause a severe reduction in the neuropiles of the medulla and lobula complexes of the adult optic lobes. The predicted protein product ofsolcontains zinc-finger-like repeats, a calpain-like protease domain, and a C-terminal region of unknown function. We have isolated human brain cDNA forSOLH, a human homologue ofsol. The humanSOLHgene...
Hereditary sensory neuropathy type I (HSN-I) is an autosomal dominant peripheral neuropathy, involving sensory and motor neurons. The disease involves distal sensory loss, distal muscle wasting and weakness, and variable neural deafness. The HSN-I locus has been mapped to a 3- to 4-cM genetic interval on chromosome 9q22.1–q22.3. As part of a positional cloning effort to identify the HSN-I gene, we...
The human X chromosome is known to contain several disease genes yet to be cloned. In the course of a project aimed at the construction of a transcription map of the Xp22 region, we fully characterized a novel cDNA,Cxorf5(HGMW-approved symbol, alias71-7A), previously mapped to this region but for which no sequence information was available. We isolated and sequenced the full-length transcript, which...
The products of histone acetyltransferase and deacetyltransferase genes regulate histone acetylation in eukaryotes, thereby regulating access of transcription factors to chromatin and modulating gene expression. Histone acetylation modifiers have been found to participate as cofactors in diverse mammalian transcriptional complexes involved in regulation of cellular proliferation and differentiation...
The human formylpeptide receptor (FPR) gene cluster has three members:FPR1andFPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, andFPRL2,whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Using probes for the three human genes we have cloned six distinct mouse genes, designatedFpr1andFpr-rs1throughFpr-rs5,which...
To exploit fully the power of the zebrafish system as a model for vertebrate development, it will be necessary to develop efficient tools for genomic analysis. In this report we have tested whether single-strand conformation polymorphism analysis (SSCP) can be utilized for gene mapping in zebrafish. Over 100 primer pairs derived from noncoding regions of known genes and partially characterized cDNAs...
Microphthalmia with linear skin defects (MLS) is an X-linked dominant male-lethal syndrome caused by different deletions of chromosome Xp22. Through the screening of cDNA libraries with the cross-species conserved marker 61B3-R (DXS1141), we identified a new gene at the telomeric breakpoint of the MLS critical region, which encodes a transcript containing a RING finger domain. This novel gene was...
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