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  • 1
    Electronic Resource
    Electronic Resource
    Evidence against DNA polymerase β as a candidate gene for Werner syndrome (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 507-512 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Werner syndrome (WS) is a rare autosomal recessive disorder of humans characterized by the premature onset and accelerated rate of development of several major age-related disorders. An aberration in DNA replication or repair is suggested by the evidence of genome instability. Since the structural gene for DNA polymerase β maps within the region of the WS mutation on the short arm of chromosome 8 and is involved in both DNA repair and DNA replication, we evaluated its candidacy as the WS gene. Several independent lines of evidence did not support that hypothesis: (1) activity gels showed normal enzyme activity and electrophoretic mobility; (2) nucleotide sequence analysis of the entire coding region failed to reveal mutations (although indicated mistakes in the published sequence); (3) single-strand conformation polymorphism (SSCP) and heteroduplex analyses failed to reveal evidence of mutations in the promoter region; (4) a newly discerned polymorphism failed to reveal evidence of homozygosity by descent in a consanguineous patient; and 5) fluorescence in situ hybridization (FISH) analysis placed the DNA polymerase β gene centromeric to D8S135 at 8p11.2 and thus beyond the region of peak LOD scores for WS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202813
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  • 2
    Electronic Resource
    Electronic Resource
    The mouse Cd83 gene: structure, domain organization, and chromosome localization (1998)
    Springer
    Immunogenetics 48 (1998), S. 383-393 
    Details
    ISSN: 1432-1211
    Keywords: Key words CD83 ; Dendritic cells ; Cloning ; Chromosome localization ; Gene structure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  Human CD83 (hCD83) is a 45 000 M r cell-surface protein expressed predominantly by dendritic lineage cells. In this report, the genomic locus encoding mouse CD83 (Cd83) was isolated and the gene structure determined. The Cd83 gene spans ∼19 kilobases (kb) and is composed of five exons, with two exons encoding a single extracellular immunoglobulin (Ig)-like domain. Mouse CD83 (mCD83) cDNAs were isolated by reverse transcriptase polymerase chain reaction of mouse RNA. Sequence determination revealed substantial conservation, with mCD83 and hCD83 sharing 63% amino acid identity. The transmembrane and cytoplasmic regions of CD83 were most highly conserved. Mouse CD83 mRNA of 2.4 kb was abundantly expressed in spleen and brain, but could also be detected in most tissues analyzed. These results suggest that in the mouse, as in humans, widely distributed dendritic cells may express mCD83. Chromosome localization revealed that the Cd83 gene is present on mouse chromosome 13 band A5, while the locus for the human gene (CD83) is located within a homologous region of human chromosome 6p23. Thus, the CD83 protein and gene appear to be well conserved during recent mammalian evolution. The isolation and characterization of the mCD83 cDNA and gene provides important information and tools that will facilitate the study of CD83 and dendritic cell function in a mouse model system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050449
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  • 3
    Electronic Resource
    Electronic Resource
    X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 71-76 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary X-inactivation patterns were studied by replication analyses both in lymphocytes and skin fibroblasts of two patients carrying balanced X-autosome translocations, t(X;10)-(pter;q11) and t(X;17)(q11;q11), and one patient with an unbalanced translocation t(X;22)(p21;q11). Preferential late replication of the normal X chromosome was found in lymphocytes of both patients carrying balanced translocations and in skin fibroblasts of the patient carrying the translocation t(X;17). However, skin fibroblasts of the patient with a translocation t(X;10) showed preferential late replication of the abnormal der(X) chromosome with no spreading of late replication to the autosomal segment. In the case of unbalanced translocation t(X;22) there was preferential late replication of the der(X) chromosome both in lymphocytes and skin fibroblasts. The abnormal phenotype of the patients is discussed in relation to the observed X-inactivation patterns and the variability of the patterns in different tissues.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275190
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  • 4
    Electronic Resource
    Electronic Resource
    Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 88-92 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The relationship between Y-chromosome abnormalities and gonadal differentiation was investigated in six phenotypic females with a 46,XY karyotype and one patient with ambiguous genitalia secondary to apparently nonmosaic 46,XY mixed gonadal dysgenesis. No alterations were found in the Y chromosomes of six of these individuals by the use of either cytogenetic or molecular techniques. Cytogenetic analysis with high-resolution G-banding and Q-banding revealed a small deletion in the short arm of the Y chromosome in one female patient with some features of Turner syndrome. Southern hybridization with Y-specific probes showed a loss of DNA within deletion intervals 1, 2, and 3 of the Y chromosome. A new Y-chromosome-specific DNA probe that hybridizes to deletion interval 3 is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274156
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  • 5
    Electronic Resource
    Electronic Resource
    Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3) (1984)
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 258-259 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A chromosome 13 deletion in a patient with sporadic retinoblastoma appears to have separated the loci for retinoblastoma and esterase D. This study indicates that: (1) the retinoblastoma locus is distinct from the esterase D locus; and (2) the linear order of these genes is centromere-esterase D-retinoblastoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00418397
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  • 6
    Electronic Resource
    Electronic Resource
    Maintenance of X inactivation of theRps4, Zfx, andUbe1 genes in a mouse in vitro system (1993)
    Springer
    Somatic cell and molecular genetics 19 (1993), S. 29-37 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Several genes, includingRPS4X (ribosomal protein subunit 4),ZFX (zinc finger on the X chromosome), andUBE1 (ubiquitin-activating enzyme), have been shown to be expressed from the inactive X chromosome of cultured human cells. By contrast, these genes are subject to X-chromosome inactivation in tissues from adult mice. We have now examined the inactivation status of these genes in cultured mouse cells to determine whether the differences in X-chromosome inactivation between species is due to an intrinsic difference between human and mouse X-chromosome genes or whether it is a function of gene reactivation in cell culture per se. The expression of three mouse X-chromosome genes,Rps4, Zfx, andUbe1 was examined by reverse transcriptase polymerase chain reaction (RT-PCR) in heterozygous cultured cells from a cross of a laboratory mouse byMus spretus, which were selected to uniformly express the X chromosome from the laboratory mouse parent. No expression of theM. spretus alleles of these genes was observed in the cell line (Hobmski), which is consistent with the patterns of expression previously observed in mouse in vivo and indicates that these genes remain stably inactivated in an immortalized mouse cell line. By cytogenetic and RT-PCR analyses the Hobmski cell line was shown to retain a late-replicating X chromosome fromM. spretus, which expressed theM. spretus allele of the X (inactive) specific transcript (Xist). The Hobmski cell line will be a useful resource for studying the features that maintain X-chromosome genes inactive.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01233952
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  • 7
    Electronic Resource
    Electronic Resource
    Oxygen-resistant multipotent embryonic carcinoma cell lines exhibit antimutator phenotypes (1994)
    Springer
    Somatic cell and molecular genetics 20 (1994), S. 361-370 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Stable, oxygen-resistant cell lines (O2R) were isolated from P19 and P19H22 (APRT hemizygote) mouse embryonic carcinoma cells by serial exposures of increasing durations to 95% O2. Neurally differentiated progeny were also oxygen-resistant. P19O2R exhibited reduced oxygenmediated micronucleation and a 10-to 20-fold reduction of the forward mutation rate at theHPRT locus in 20% O2. P19H22O2R cells showed reduced frequencies of colonies resistant to 2,6-diaminopurine. The modal karyotype of P19O2R was identical to that of a nonmodal karyotype present in the parental line [39, X,-Y, add(14)]. There was no evidence of enhanced resistance to ionizing radiation. We conclude that this general approach, when applied to pluripotent embryonic stem cells, has the potential to lead to the synthesis of antimutator strains of mice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02257453
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  • 8
    Electronic Resource
    Electronic Resource
    Localization of cloned mouse chromosome 7-specific DNA to lethal albino deletions (1984)
    Springer
    Somatic cell and molecular genetics 10 (1984), S. 211-215 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mouse chromosome X- and 7-specific DNA fragments have been isolated from a recombinant DNA library enriched for X(7) chromosome sequences. The library was enriched by flow sorting the X(7) chromosome, a derivation of the Cattanach translocation, prior to library construction. A DNA fragment was found to be located in a region deleted in newborn mice doubly heterozygous for the two albino deletions c3H and c6H in chromosome 7. These chromosome-specific DNA fragments will be useful for studying X inactivation spreading in the X-autosome translocation (T(X;7)1Ct) and for investigating the developmental effects of the lethal albino deletions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01535243
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  • 9
    Electronic Resource
    Electronic Resource
    Resistance to paraquat in a mammalian cell Line (1986)
    Springer
    Somatic cell and molecular genetics 12 (1986), S. 141-152 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Paraquat-resistant variants were isolated in Chinese hamster ovary (CEO) cells by stepwise increases in paraquat concentrations. Three series of selective experiments gave variants which appeared to be using one or several different mechanisms of resistance. In all variants tested (PQ-1, PQ-2, PQ-3, PQ-2X and PQ-3X of series 1), radioactively labeled paraquat was taken up by the cells. These variants exhibited no unusual resistance to either oxygen or radiation, nor were increases found in the activities of free-radical scavenging enzymes. They had extra DNA (3–12%) and an unusual acrocentric marker chromosome which was common to all of the variants but never observed in the parental cells. Double minutes were observed in 29% of metaphases of the PQ-3 variant. One of the resistant lines exhibited evidence of an intrinsic chromosomal instability, a phenotype that could conceivably facilitate gene amplification. Selection series 2 and 3 were designed to further evaluate gene amplification as a mechanism of resistance. These variants exhibited high frequencies (40–100%) of tetraploidy or hypotetraploidy with loss of chromosomes and varying frequencies of double minutes (10–75% of metaphases). In two of the variants the same marker chromosome which was observed in the series 1 variants was seen. Two other lines exhibited a variant of this marker, incorporating it into a metacentric chromosome. It may be that gene amplification facilitates resistance to paraquat and that both stable and unstable methods of amplifying genes are used.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01560661
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  • 10
    Electronic Resource
    Electronic Resource
    Comparative methylation analysis of murine transgenes that undergo or escape X-chromosome inactivation (1998)
    Springer
    Chromosome research 6 (1998), S. 397-404 
    Details
    ISSN: 1573-6849
    Keywords: DNA methylation ; dosage compensation ; escape from X inactivation ; fluorescence in situ hybridization ; transgenic animals ; X-chromosome inactivation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We analyzed an X-linked metallothionein–vasopressin (MTVP) fusion transgene that undergoes X-chromosome inactivation (X inactiv ation) and an X-linked transferrin (TFN) transgene that escapes X inactivation with respect to methylation in the 5′ regulatory regions. The MTVP transgene promoter region is unmethylated when the transgene is on the active X chromosome and methylated when on the inactive X chromosome. Interestingly, the MTVP transgene is not detectably transcribed from the male X chromosome, although it is unmethylated, consistent with its availability for transcription. The TFN transgene promoter region is hypomethylated on both the active and inactive X chromosomes, consistent with its expression from both chromosomes. The TFN and MTVP transgenes have been mapped to chromosomal regions D and C, respectively, by fluorescence in situ hybridization. These observations are discussed in the context of our understanding of the role of DNA methylation in the spread and maintenance of X-chromosome inactivation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009229423535
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