Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation.

Abstract:

:An inverted duplication of chromosome 15 [inv dup(15)] is the most common supernumerary marker chromosome, comprising approximately 50% of all chromosomes in this class. Structurally, the inv dup(15) is a mirror image with the central axis defining a distal break within either the heterochromatic alpha-satellite array or along the euchromatin in the long (q) arm of the chromosome. There are several types of inv dup(15), classified by the amount of euchromatic material present. Generally, they are bisatellited, pseudodicentric and have a breakpoint in 15q11-q14. A suggested mechanism of formation of inv dup(15) involves illegitimate recombination between homologous chromosomes followed by nondisjunction and centromere inactivation. The proximal portion of chromosome 15 contains several low-copy repeat sequence families and it has been hypothesized that errors in pairing among these repeats may result in structural rearrangements of this chromosome including the inv dup(15). To test this hypothesis and to determine the mechanism of formation, the inv dup(15) from four cases was isolated in somatic cell hybrids and polymerase chain reaction microsatellite markers were used to determine the origin of exchange. Two appeared to result from interchromosomal and two from intrachromosomal exchange, one of which occurred post-recombination. In addition, a detailed physical map of the breakpoint region in the largest inv dup(15) was constructed placing eight new sequence-tagged sites and ten new bacterial artificial chromosome markers in the region.

journal_name

Chromosoma

journal_title

Chromosoma

authors

Wandstrat AE,Schwartz S

doi

10.1007/s004120000103

subject

Has Abstract

pub_date

2000-11-01 00:00:00

pages

498-505

issue

7

eissn

0009-5915

issn

1432-0886

journal_volume

109

pub_type

杂志文章
  • X-ray induced visible alterations in the giant chromosomes of Phryne cincta (Nematocera, Diptera): relation of radiation sensitivity to pronuclear chromosome structure.

    abstract::In order to induce chromosomal rearrangements, males were exposed to x-rays and then mated to non-irradiated females. The number of each type of structural alteration was determined by examination of the polytene chromosomes of the F1 progeny. -- A comparison of the results with similar studies made on Drosophila reve...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00329175

    authors: Israelewski N

    更新日期:1975-12-10 00:00:00

  • Chromosome segregation in crane-fly spermatocytes: cold treatment and cold recovery induce anaphase lag.

    abstract::Anaphase lagging of autosomes was observed in 6.1 +/- 5.4% of the primary spermatocytes in untreated larvae of the crane fly, Nephrotoma suturalis. Lagging was induced by exposure of larvae to 6 degrees C and during recovery at 22 degrees C from exposure to 0.2, 2, and 6 degrees C. The incidence of anaphase lag was ma...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00330776

    authors: Janicke MA,LaFountain JR Jr

    更新日期:1982-01-01 00:00:00

  • A structural analysis of Balbiani ring dna sequences in Chironomus tentans.

    abstract::The Balbiani rings in the salivary gland polytene chromosomes of Chironomus tentans include the most active structural genes in this organ. Two of them (BR1 and BR2) contain repetitive sequences and are transcribed into giant RNA molecules. On Southern blots of restriction digests, we have identified fragments of geno...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00327354

    authors: Degelmann A,Hollenberg CP

    更新日期:1981-01-01 00:00:00

  • Characterization of macronuclear DNA in five species of ciliates.

    abstract::Macronuclear DNA of four hypotrichous and one holotrichous ciliate species was characterized by biochemical techniques. The renaturation kinetics of the macronuclear DNAs of all five species were similar. Repetitive sequences occur only in an amount below 2%. Although the DNA content of the macronuclei of the species ...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00286789

    authors: Steinbrück G,Haas I,Hellmer KH,Ammermann D

    更新日期:1981-01-01 00:00:00

  • A simple and rapid method for constructing ring-X chromosomes in Drosophila melanogaster.

    abstract::Ring chromosomes are of basic interest to the geneticist and cell biologist who study their behavior in meiotic and mitotic divisions. In addition, the mitotic instability associated with some ring-X chromosomes has proven useful in Drosophila as a means to produce gynandromorphs for developmental studies. We describe...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-010-0297-2

    authors: Golic MM,Golic KG

    更新日期:2011-04-01 00:00:00

  • The distribution of intermicrotubular bridges in meiotic spindles of the crane fly.

    abstract::The distribution of intermicrotubular bridges in spindles of tipulid spermatocytes (Pales ferruginea, first meiotic division) was analyzed using serial sections of pre-selected cells. Bridges were found in all spindle regions, including kinetochore microtubules and free microtubules in the chromosome fiber. The dimens...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00328643

    authors: Bastmeyer M,Fuge H

    更新日期:1986-01-01 00:00:00

  • Frequency and distribution of chiasmata in Syrian hamster spermatocytes studied by the BrdU antibody technique.

    abstract::The frequency and distribution of chiasmata and the nature of terminal "associations" was re-examined in Syrian hamster spermatocytes using the 5-bromo-2'-deoxyuridine (BrdU) antibody technique (BAT) for differential chromatid labelling. Differential chromatid substitution was achieved by BrdU incorporation at the pen...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF01731702

    authors: Latos-Bielenska A,Vogel W

    更新日期:1990-08-01 00:00:00

  • Transition from somatic to meiotic pairing and progressional changes of the synaptonemal complex in spermatocytes of Aedes aegypti.

    abstract::Aedes aegypti spermatocytes were reconstructed from electron micrographs. The species has tight somatic pairing of the chromosomes, and there are therefore no classical leptotene and zygotene stages, but rather a gradual transition from somatic pairing to meiotic pairing (= pachytene). The term "prepachytene" has been...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00329808

    authors: Wandall A,Svendsen A

    更新日期:1985-01-01 00:00:00

  • RNA and macronuclear transcription in the ciliate Stylonychia mytilus.

    abstract::Nuclear and cytoplasmic RNA of Stylonychia mytilus were analyzed on denaturing polyacrylamide gels. The molecular weight of rRNA precursor molecules is within a range of 2.1 x 10(6) daltons. A comparison between the electrophoretic pattern of nuclear non-ribosomal RNA and cytoplasmic mRNA indicates that a considerable...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00286790

    authors: Nock A

    更新日期:1981-01-01 00:00:00

  • Population cytogenetics of the genus Caledia (Orthoptera: Acridinae). I. Inter- and intraspecific karyotype diversity.

    abstract::The genus Caledia acontains two species. C. species nova 1 is restricted to the Oriomo Plateau of S. W. Papua and has a complement of twelve telocentric chromosomes. The second species C. captiva has a much wider distribution pattern--from S.W. Papua in the North, down the entire Eastern seaboard of Australia to South...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00293452

    authors: Shaw DD

    更新日期:1976-02-23 00:00:00

  • P1 clones from Drosophila melanogaster as markers to study the chromosomal evolution of Muller's A element in two species of the obscura group of Drosophila.

    abstract::Thirty P1 clones from the X chromosome (Muller's A element) of Drosophila melanogaster were cross-hybridized in situ to Drosophila subobscura and Drosophila pseudoobscura polytene chromosomes. An additional recombinant phage lambda Dsuby was also used as a marker. Twenty-three (77%) of the P1 clones gave positive hybr...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00347695

    authors: Segarra C,Lozovskaya ER,Ribó G,Aguadé M,Hartl DL

    更新日期:1995-11-01 00:00:00

  • Dynamic changes in Rad51 distribution on chromatin during meiosis in male and female vertebrates.

    abstract::Antibodies against human Rad51 protein were used to examine the distribution of Rad51 on meiotic chromatin in mouse spermatocytes and oocytes as well as chicken oocytes during sequential stages of meiosis. We observed the following dynamic changes in distribution of Rad51 during meiosis: (1) in early leptotene nuclei ...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00352222

    authors: Ashley T,Plug AW,Xu J,Solari AJ,Reddy G,Golub EI,Ward DC

    更新日期:1995-10-01 00:00:00

  • In vivo modification of a maize engineered minichromosome.

    abstract::Engineered minichromosomes provide efficient platforms for stacking transgenes in crop plants. Methods for modifying these chromosomes in vivo are essential for the development of customizable systems for the removal of selection genes or other sequences and for the addition of new genes. Previous studies have demonst...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-013-0403-3

    authors: Gaeta RT,Masonbrink RE,Zhao C,Sanyal A,Krishnaswamy L,Birchler JA

    更新日期:2013-06-01 00:00:00

  • The formation of ribonucleoprotein droplets in Chironomus salivary gland nuclei.

    abstract::The appearance of RNP droplets associated with specific regions of polytene chromosomes from Chironomus larvae has been studied, systematically by light microscopy using glutarladehyde fixation and lactic acid squashing of the salivary gland. During the fourth larval instar the highest frequency of nuclei which contai...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00344485

    authors: Stockert JC,Díez JL

    更新日期:1979-09-01 00:00:00

  • The perichromosomal layer.

    abstract::In addition to genetic information, mitotic chromosomes transmit essential components for nuclear assembly and function in a new cell cycle. A specialized chromosome domain, called the perichromosomal layer, perichromosomal sheath, chromosomal coat, or chromosome surface domain, contains proteins required for a variet...

    journal_title:Chromosoma

    pub_type: 杂志文章,评审

    doi:10.1007/s00412-005-0021-9

    authors: Van Hooser AA,Yuh P,Heald R

    更新日期:2005-12-01 00:00:00

  • Unique XCI evolution in Tokudaia: initial XCI of the neo-X chromosome in Tokudaia muenninki and function loss of XIST in Tokudaia osimensis.

    abstract::X chromosome inactivation (XCI) is an essential mechanism to compensate gene dosage in mammals. Here, we show that XCI has evolved differently in two species of the genus Tokudaia. The Amami spiny rat, Tokudaia osimensis, has a single X chromosome in males and females (XO/XO). By contrast, the Okinawa spiny rat, Tokud...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-017-0639-4

    authors: Zushi H,Murata C,Mizushima S,Nishida C,Kuroiwa A

    更新日期:2017-12-01 00:00:00

  • Cytogenetic replication studies on murine T-cell leukemias with special consideration to chromosome 15.

    abstract::Chromosomal replication was studied by means of the BrdU-Höchst-Giemsa-technique in three minute T-cell leukemias with special regard to chromosome 15. In all the three leukemic cell lines the normally early replicating band 15 E was undetectable whereas late replication in this region is completely unaltered. Further...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00288676

    authors: Somssich IE,Spira J,Hameister H,Klein G

    更新日期:1982-01-01 00:00:00

  • Preparation and imaging of nuclear spreads from cells of the zebrafish embryo. Evidence for large degradation intermediates in apoptosis.

    abstract::We describe a method for preparing nuclear spreads from cells of live, unfixed zebrafish embryos at the late-gastrula (approximately 8000 cell) stage of development. The method consists of a sequence of four steps: (1) a slow, gentle lysis, in low to moderate salt concentration, of cells and then nuclei, to release DN...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s004120050280

    authors: Chan DW,Yager TD

    更新日期:1998-03-01 00:00:00

  • Spreading synaptonemal complexes from Zea mays. I. No synaptic adjustment of inversion loops during pachytene.

    abstract::Four different inversion heterozygotes of maize were examined for the occurrence of synaptic adjustment. Three substages of pachytene were identified in synaptonemal complex (SC) spreads using side-by-side comparisons of chromosome squashes with two-dimensional spreads of SCs. In SC spreads, inversion loop frequency d...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00286917

    authors: Anderson LK,Stack SM,Sherman JD

    更新日期:1988-01-01 00:00:00

  • Patterns of meiotic double-strand breakage on native and artificial yeast chromosomes.

    abstract::The preferred positions for meiotic double-strand breakage were mapped on Saccharomyces cerevisiae chromosomes I and VI, and on a number of yeast artificial chromosomes carrying human DNA inserts. Each chromosome had strong and weak double-strand break (DSB) sites. On average one DSB-prone region was detected by pulse...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF02524645

    authors: Klein S,Zenvirth D,Dror V,Barton AB,Kaback DB,Simchen G

    更新日期:1996-12-01 00:00:00

  • Re-evaluating the role of Tao1 in the spindle checkpoint.

    abstract::The spindle checkpoint restrains anaphase onset and mitotic exit until all chromosomes are stably attached to the mitotic spindle via their kinetochores. The Tao1 protein kinase was recently reported as a novel spindle checkpoint component. When an siRNA was used to repress Tao1, the essential spindle checkpoint compo...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-010-0261-1

    authors: Westhorpe FG,Diez MA,Gurden MD,Tighe A,Taylor SS

    更新日期:2010-08-01 00:00:00

  • FISH analysis of Drosophila melanogaster heterochromatin using BACs and P elements.

    abstract::The heterochromatin of chromosomes 2 and 3 of Drosophila melanogaster contains about 30 essential genes defined by genetic analysis. In the last decade only a few of these genes have been molecularly characterized and found to correspond to protein-coding genes involved in important cellular functions. Moreover, sever...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-003-0241-9

    authors: Corradini N,Rossi F,Vernì F,Dimitri P

    更新日期:2003-07-01 00:00:00

  • Selective digestion of mouse metaphase chromosomes.

    abstract::Metaphase chromosomes prepared from colcemid-treated mouse L929 cells by non-ionic detergent lysis exhibit distinct heterochromatic centromere regions and associated kinetochores when viewed by whole mount electron microscopy. Deoxyribonuclease I treatment of these chromosomes results in the preferential digestion of ...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00330554

    authors: Rattner JB,Krystal G,Hamkalo BA

    更新日期:1978-04-25 00:00:00

  • The distribution of sequences complementary to human satellite DNAs I, II and IV in the chromosomes of chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla) and orang utan (Pongo pygmaeus).

    abstract::Human satellite DNAs I, II and IV were transcribed to yield radioactive complementary RNAs (cRNAs). These cRNAs were hybridised to metaphase chromosomes of man, chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla) and orang utan (Pongo pygmaeus). The results of this in situ hybridisation were analysed quantitativel...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00327453

    authors: Gosden JR,Mitchell AR,Seuanez HN,Gosden CM

    更新日期:1977-09-27 00:00:00

  • EAST affects the activity of Su(Hw) insulators by two different mechanisms in Drosophila melanogaster.

    abstract::Recent data suggest that insulators organize chromatin architecture in the nucleus. The best characterized Drosophila insulator, found in the gypsy retrotransposon, contains 12 binding sites for the Su(Hw) protein. Enhancer blocking, along with Su(Hw), requires BTB/POZ domain proteins, Mod(mdg4)-67.2 and CP190. Inacti...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/s00412-016-0596-3

    authors: Melnikova L,Shapovalov I,Kostyuchenko M,Georgiev P,Golovnin A

    更新日期:2017-03-01 00:00:00

  • Analysis of DNase 1 sensitivity and methylation of active and inactive X chromosomes of kangaroos (Macropus robustus) by in situ nick translation.

    abstract::The overall nuclease sensitivity and methylation of active and inactive X chromosomes of kangaroos were examined by in situ nick translation. Cultured fibroblasts of subspecies wallaroo-euro (Macropus robustus robustus; Macropus robustus erubescens) hybrids were used, enabling the paternally and maternally derived X c...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00356024

    authors: Loebel DA,Johnston PG

    更新日期:1993-01-01 00:00:00

  • Proportional polyploidization of 5S RNA genes in the ovary of Drosophila melanogaster mutants containing three 5S RNA gene loci.

    abstract::The 5S RNA gene content of polyploid cells of the ovary of Drosophila melanogaster has been compared in animals with two or three gene clusters. The amount of 5S RNA genes is exactly proportional to the number of gene clusters as determined by DNA-RNA filter hybridization. In contrast, the number of rDNA genes in endo...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00328768

    authors: Renkawitz-Pohl R

    更新日期:1979-01-31 00:00:00

  • Shaping meiotic prophase chromosomes: cohesins and synaptonemal complex proteins.

    abstract::Recent progress in elucidating the function of synaptonemal complex (SC) proteins and of cohesins in meiocytes made possible, in particular, through the analysis of mice deficient in SC or cohesin proteins has significantly enriched our understanding of how meiotic chromosome architecture is determined. Cohesins and t...

    journal_title:Chromosoma

    pub_type: 杂志文章,评审

    doi:10.1007/s00412-006-0060-x

    authors: Revenkova E,Jessberger R

    更新日期:2006-06-01 00:00:00

  • Ultrastructural localization of nucleic acid sequences in Saccharomyces cerevisiae nucleoli.

    abstract::The putative nucleolus in Saccharomyces cerevisiae is visible in electron micrographs as a darkly stained, crescent-shaped structure associated with the nuclear envelope. The haploid yeast genome contains 100-200 tandem copies of a 9.1 kb ribosomal DNA (rDNA) repeat predicted to reside in this structure. We combined i...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF00352202

    authors: Dvorkin N,Clark MW,Hamkalo BA

    更新日期:1991-09-01 00:00:00

  • Beyond ribosomal DNA: on towards the telomere.

    abstract::We have sequenced and analyzed 8.3 kb of sequence adjacent and distal to the human ribosomal DNA (rDNA); this distal sequence connects to the rDNA cluster just 4 kb upstream of the first promoter and is shared among the acrocentric chromosomes and, at least in part, it is also present in other primates. The sequence d...

    journal_title:Chromosoma

    pub_type: 杂志文章

    doi:10.1007/BF02510479

    authors: Gonzalez IL,Sylvester JE

    更新日期:1997-06-01 00:00:00