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1.
Tom Goldammer Ronald M. Brunner Alexander Rebl Chun Hua Wu Ko Nomura Tracy Hadfield Jill F. Maddox Noelle E. Cockett 《Chromosome research》2009,17(4):497-506
A comprehensive physical map was generated for Ovis aries chromosome X (OARX) based on a cytogenomics approach. DNA probes were prepared from bacterial artificial chromosome (BAC)
clones from the CHORI-243 sheep library and were assigned to G-banded metaphase spreads via fluorescence in-situ hybridization
(FISH). A total of 22 BACs gave a single hybridization signal to the X chromosome and were assigned out of 32 tested. The
positioned BACs contained 16 genes and a microsatellite marker which represent new cytogenetically mapped loci in the sheep
genome. The gene and microsatellite loci serve to anchor between the existing radiation hybrid (RH) and virtual sheep genome
(VSG) maps to the cytogenetic OARX map, whilst the BACs themselves also serve as anchors between the VSG and the cytogenetic
maps. An additional 17 links between the RH and cytogenetic maps are provided by BAC end sequence (BES) derived markers that
have also been positioned on the RH map. Comparison of the map orders for the cytogenetic, RH, and virtual maps reveals that
the orders for the cytogenetic and RH maps are most similar, with only one locus, represented by BAC CH243-330E18, mapping
to relatively different positions. Several discrepancies, including an inverted segment are found when comparing both the
cytogenetic and RH maps with the virtual map. These discrepancies highlight the value of using physical mapping methods to
inform the process of future in silico map construction. A detailed comparative analysis of sheep, human, and cattle mapping data allowed the construction of a
comparative map that confirms and expands the knowledge about evolutionary conservation and break points between the X chromosomes
of the three mammalian species.
Accession numbers: Sequence data from this article have been deposited with the GenBank Data Library under Accession Nos.
FJ853178–FJ853188 and FJ868495–FJ868499. 相似文献
2.
María Teruel Josefa Cabrero Eugenia E. Montiel Manuel J. Acosta Antonio Sánchez Juan Pedro M. Camacho 《Chromosome research》2009,17(1):11-18
Acquisition of knowledge of the nature and DNA content of B chromosomes has been triggered by a collection of molecular techniques,
one of which, microdissection, has provided interesting results in a number of B chromosome systems. Here we provide the first
data on the molecular composition of B chromosomes in Locusta migratoria, after microdissection of the B and X chromosomes, DNA amplification by one (B) or two (X) different methods, and chromosome
painting. The results showed that B chromosomes share at least two types of repetitive DNA sequences with the A chromosomes,
suggesting that Bs in this species most likely arose intraspecifically. One of these repetitive DNAs is located on the heterochromatic
distal half of the B chromosome and in the pericentromeric regions of about half of the A chromosomes, including the X. The
other type of repetitive DNA is located interspersedly over the non-centromeric euchromatic regions of all A chromosomes and
in an interstitial part of the proximal euchromatic half of the B chromosome. Chromosome painting, however, did not provide
results sufficiently reliable to determine, in this species, which A chromosome gave rise to the B; this might be done by
detailed analysis of the microdissected DNA sequences 相似文献
3.
4.
Frauke Behrens Uwe Claussen Leslie M. Iyer Eric D. Green Bernhard Horsthemke Robert Williamson Clare Huxley Charles Coutelle 《Chromosome research》1997,5(4):215-220
Centromeres remain the least characterized regions of human chromosomes because they have a very high content of repetitive DNA. Here, we describe a micro-dissection library from the centromeric region of human chromosome 7 and its use for generating sequence tagged sites (STSs). The library contains about 1500 clones with an average insert size of 150 bp and only about 15% of the clones harbour repetitive human DNA. Seven clones hybridizing to alphoid DNA were found to correspond to a fragment of the D7Z2 alphoid array on chromosome 7, thus confirming the origin of the library. A number of clones not containing known repetitive DNA were used to generate STSs that identified yeast artificial chromosomes (YACs) and in turn allowed the STSs to be placed on the physical map. One STS is located between the two Genethon genetic markers closest to the centromere on the q side. Another STS was located 3–4 cM away in 7q11.2, while a third identified YACs containing both low-copy and alphoid sequences that are not yet mapped but are clearly centromeric. The library therefore comprises a collection of sequences from the centromeric region of chromosome 7 that can be used to generate STSs and to map the entire centromeric region.This revised version was published online in November 2005 with corrections to the Cover Date. 相似文献
5.
A pilot study comparing horse and donkey karyotypes on a molecular basis was initiated using the chromosomal microdissection
approach. All equine meta- and submetacentric chromosomes, viz. ECA1 to ECA13 and the X and Y chromosomes, were microdissected.
The DNA was PCR amplified, non-radioactively labelled and used as probes on equine metaphase chromosomes to confirm their
origin. Once tested, the paints were used as probes on donkey metaphase chromosomes to detect homologous chromosomal segments
between the two species. The results not only detected conservation of whole chromosome and/or arm synteny between the two
karyotypes, but also highlighted varying degrees of rearrangements. The findings also enable deduction of homology between
parts of donkey and human karyotypes. In light of the molecular evidence, this study examines the accuracy of the available
comparative cytogenetic data between horse and donkey.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
6.
Takahiro Taguchi Kunihiro Akimaru Hirohisa Hirai Yuriko Hirai Jason M. Mwenda Kazunari Yuri 《Chromosome research》2003,11(2):147-152
We isolated a DNA probe, designated MMDYZ1, using a chromosome microdissection technique from the Y chromosome of the Rhesus monkey. The probe obtained from eight whole Y chromosomes shows higher specificity for the Y short arm of the Rhesus monkey, which consists totally of constitutive heterochromatin. Two microclones (MMY#3 and MMY#4) were constructed from the Y-specific primary PCR products. Sequence analysis of these two microclones revealed that both were essentially identical to each other and the sizes were 870 and 686bp, respectively. From alignment analysis using the Genbank database of primates, the alphoid DNA has the highest affinity with the probe. However, the total composition of this probe has extremely high homology with the Y short arm of the Rhesus monkey, as demonstrated by fluorescence in-situ hybridization (FISH). Comparative FISH-mapping disclosed that this DNA-sequence cluster was located at extremely different sites on the Y chromosome in several species of the Old World monkey. Accordingly, this probe seems to be a high-quality tool, now established for the first time, for investigating Y chromosome evolution of the Old World monkey. 相似文献
7.
Katia-dni F. de Albuquerque Coêlho Masayuki Egashira Rumiko Kato Masahiro Fujimoto Naomichi Matsumoto Budsaba Rerkamnuaychoke Kyohko Abe Naoki Harada Hirofumi Ohashi Yoshimitsu Fukushima Norio Niikawa 《American journal of medical genetics. Part A》1996,63(3):468-471
A molecular cytogenetic method consisting of chromosome microdissection and subsequent reverse/forward chromosome painting is a powerful tool to identify chromosome abnormalities of unknown origin. We present 4 cases of chromosome structural abnormalities whose origins were ascertained by this method. In one MCA/MR patient with an add(5q)chromosome, fluorescence in situ hybridization (FISH), using probes generated from a microdissected additional segment of the add(5q) chromosome and then from a distal region of normal chromosome 5, confirmed that the patient had a tandem duplication for a 5q35-qter segment. Similarly, we ascertained that an additional segment of an add(3p) chromosome in another MCA/MR patient had been derived from a 7q32-qter segment. In a woman with a history of successive spontaneous abortions and with a minute marker chromosome, painting using microdissected probes from the whole marker chromosome revealed that it was i(15)(p10) or psu dic(15;15)(q11;q11). Likewise, a marker observed in a fetus was a ring chromosome derived from the paracentromeric region of chromosome 19. We emphasize the value of the microdissection-based chromosome painting method in the identification of unknown chromosomes, especially for marker chromosomes. The method may contribute to a collection of data among patients with similar or identical chromosome abnormalities, which may lead to a better clinical syndrome delineation. © 1996 Wiley-Liss, Inc. 相似文献
8.
Olga Řezáčová Svatava Kubíčková Halina Černohorská Jiří Rubeš 《Chromosome research》2003,11(7):715-724
Spontaneous frequencies of stable chromosomal aberrations in farm animals have not been established yet. The aim of this study
was to determine the spontaneous background frequencies of structural chromosomal aberrations in cattle and pig, and to compare
them with the established findings in humans.
Analysis was carried out on peripheral blood samples taken from 29 cows, 15 calves, 15 boars, 13 piglets, and 23 adult and
12 newborn humans. Dual-colored FISH using whole chromosome painting probes specific for human chromosomes 1 and 4, bovine
chromosomes 1 and 7, and pig chromosomes 1 and 13 was performed. Chromosome aberrations were classified according to the PAINT
nomenclature. The proportions of aberrant cells and the genomic frequencies of translocations, insertions and dicentrics were
measured.
The highest background translocation frequency was observed in humans (1.40±0.92). Data obtained in boars were similar to
those obtained in humans. Cows showed much lower values of studied parameters than was expected. There was no statistical
difference in any category of aberration frequencies between cows and calves. Significant differences in genomic frequencies
of both total and reciprocal translocations were found when comparing boars with piglets and adult humans with newborn babies.
Very low levels of spontaneous background translocation frequencies were seen among calves, piglets and newborn human babies.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
9.
Sex chromosomes in species of the genus Microtus present some characteristic features that make them a very interesting group to study sex chromosome composition and evolution.
M. cabrerae and M. agrestis have enlarged sex chromosomes (known as ‘giant sex chromosomes’) due to the presence of large heterochromatic blocks. By
chromosome microdissection, we have generated probes from the X chromosome of both species and hybridized on chromosomes from
six Microtus and one Arvicola species. Our results demonstrated that euchromatic regions of X chromosomes in Microtus are highly conserved, as occurs in other mammalian groups. The sex chromosomes heterochromatic blocks are probably originated
by fast amplification of different sequences, each with an independent origin and evolution in each species. For this reason,
the sex heterochromatin in Microtus species is highly heterogeneous within species (with different composition for the Y and X heterochromatic regions in M. cabrerae) and between species (as the composition of M. agrestis and M. cabrerae sex heterochromatin is different). In addition, the X chromosome painting results on autosomes of several species suggest
that, during karyotypic evolution of the genus Microtus, some rearrangements have probably occurred between sex chromosomes and autosomes. 相似文献
10.
Alexander I. Shevchenko Irina S. Zakharova Eugeny A. Elisaphenko Nicolay N. Kolesnikov Siobhan Whitehead Christine Bird Mark Ross Jennifer R. Weidman Randy L. Jirtle Tatiana V. Karamysheva Nicolay B. Rubtsov John L. VandeBerg Nina A. Mazurok Tatyana B. Nesterova Neil Brockdorff Suren M. Zakian 《Chromosome research》2007,15(2):127-136
11.
S. V. Stukalov 《Bulletin of experimental biology and medicine》1995,119(1):63-65
The frequency of radioactive label (3H-thymidine) incorporation in human lymphocyte chromosomes in the course of repair (extra) synthesis of DNA was assessed.
Chromosomes 7, 12, and 21 were found to have a lower, and chromosome 22 a higher repair activity than was expected when a
uniform incorporation of the label along the genome was hypothesized. Segments were detected that incorporated an increased
number of labels in the course of extra DNA synthesis.
Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 119, N
o
1, pp. 69–71, January, 1995
(Presented by R. V. Petrov, Member of the Russian Academy of Medical Sciences) 相似文献
12.
Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection 下载免费PDF全文
Delatycki MB Voullaire L Francis D Petrovic V Robertson A Webber LM Slater HR 《Journal of medical genetics》1999,36(4):335-338
Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of unknown origin on 20p (46,XX,add(20)(p13)). Familial chromosome studies showed direct inheritance of add(20)(p13) from the father, who had a similar, albeit milder, phenotype. Fibroblast chromosome studies of the father showed no karyotype mosaicism. The additional material could not be identified on the basis of the G banding pattern owing to its small size and ambiguous banding pattern. Chromosome microdissection of the unknown material was performed, the DNA was amplified and labelled using degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and reverse painted to the proband's cells to show the karyotype 46,XX,der(20)t(6;20) (p23;p13), conferring partial trisomy 6p and presumed partial monosomy for 20p. Chromosome microdissection has made possible the first reported case of directly inherited partial trisomy 6p. 相似文献
13.
Jörg Weimer Michael R. Koehler Ute Wiedemann Peter Attermeyer Anja Jacobsen Doris Karow Marion Kiechle Walter Jonat Norbert Arnold 《Chromosome research》2001,9(5):395-402
A technique disclosing most information about chromosome modifications is the technique of choice for the analysis of chromosome alterations. The newly developed method for microdissection of fluorescence-labeled chromosomes (FISH-MD) can improve upon this expectation in combination with 24-color spectral karyotyping (SKY). The highly efficient way to detect chromosome modifications by SKY and the detailed specification of aberrant chromosomes by FISH-MD prompted us to use both techniques in a combined approach called SKY-MD. First, an overview of chromosomal aberrations is obtained by spectral karyotyping and subsequently the derivative chromosomes recognized are characterized in a highly specific manner by microdissection and reverse painting. A small quantity of isolated material dissected directly from a 24-color metaphase is sufficient to obtain very detailed information about the chromosome regions and the breakpoints involved in the derivative chromosomes. Therefore, the combination of spectral karyotyping and microdissection in one procedure, and reverse painting can characterize chromosomal aberrations with a degree of specificity hitherto unknown from individual karyotyping experiments. In this article we compare the efficiency of both the SKY technique and that of classical microdissection with the efficiency obtained by SKY-MD. 相似文献
14.
Gian Mario Cosseddu Anne Oustry-Vaiman Benoît Jego Carole Moreno Sead Taourit Edmond P. Cribiu Jean-Michel Elsen Daniel Vaiman Daniel Vaiman 《Chromosome research》2002,10(5):369-378
A chromosome region involved in scrapie incubation time was identified on sheep chromosome 18 (OAR18). Since OAR18 (and OAR7)
share conserved chromosome segments with human chromosomes HSA14 and HSA15, a dense map of type I markers was constructed
by FISH mapping of bacterial artificial chromosomes containing genes located on these human chromosomes. In this study, we
used the complete human sequence information (gene positions in megabases, Mb) to locate approximately one gene every 2 Mb
on HSA15 (19 genes mapped between 19.51 and 66.02 Mb) and on HSA14 (11 genes between 73.24 and 102.62 Mb). Combined with previous
work carried out in cattle and goats, our results made it possible to refine the comparative map between ruminants and humans
for these two highly rearranged chromosomes (10 segments on HSA15 and 7 on HSA14). Furthermore, we identified relatively short
intervals containing evolutionary breakpoints, which is a prerequisite to position them precisely. This work is also the first
step in the cloning of the region involved in scrapie incubation period in sheep.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
15.
Using fluorescent in-situ hybridization (FISH) of zebra finch (Taeniopygia guttata) bacterial artificial chromosome (BAC) clones, we determined the chromosomal localizations of 14 zebra finch genes that are
Z-linked in chickens: ATP5A1, CHD1, NR2F1, DMRT1, PAM, GHR, HSD17B4, NIPBL, ACO1, HINT1, SMAD2, SPIN, NTRK2 and UBE2R2. All 14 genes also map to the zebra finch Z chromosome, indicating substantial conservation of gene content on the Z chromosome
in the two avian lineages. However, the physical order of these genes on the zebra finch Z chromosome differed from that of
the chicken, in a pattern that would have required several inversions since the two lineages diverged. Eight of 14 zebra finch
BAC DNA showed cross-hybridization to the W chromosome, usually to the entire W chromosome, suggesting that repetitive sequences
are shared by the W and Z chromosomes. These repetitive sequences likely evolved in the finch lineage after it diverged from
the Galliform lineage. 相似文献
16.
Kazumi Matsubara Chizuko Nishida-Umehara Asato Kuroiwa Kimiyuki Tsuchiya Yoichi Matsuda 《Chromosome research》2003,11(1):57-64
Comparative chromosome painting was applied to the Indian spiny mouse (Mus platythrix) with mouse (M. musculus) chromosome-specific probes for understanding the process of chromosome rearrangements between the two species. The chromosome locations of the 5S and 18S-28S ribosomal RNA genes and the order of the 119 and Tcp-1 genes in the In(17)2 region of the t-complex were also compared. All the painting probes were successfully hybridized to the Indian spiny mouse chromosomes, and a total of 27 segments homologous to mouse chromosomes were identified. The comparative FISH analysis revealed that tandem fusions were major events in the chromosome evolution of the Indian spiny mouse. In addition, other types of chromosome rearrangements, i.e. reciprocal translocations and insertions, were also included. 相似文献
17.
Tom Goldammer Ronald M. Brunner Rosemarie Weikard Christa Kuehn Klaus Wimmers 《Chromosome research》2007,15(2):203-213
Comparative genome analysis in cattle, human, and mouse identified various evolutionary breakpoints between Bos taurus 27 chromosome (BTA27) and corresponding segments in the Homo sapiens 4 and 8 chromosomes (HSA4, HSA8) and the Mus musculus 8 chromosome (MMU8). The fragmentary cytogenetic location of breaks is based on nine known loci and Zoo-FISH data on BTA27.
A comparative mapping approach combining in-silico mapping and physical mapping by fluorescence in-situ hybridization (FISH) revealed an improved cytogenetic map of BTA27 based on 25 new and nine existing assignments of loci.
Furthermore, hybrid cell mapping techniques identified and anchored three additional gene loci on BTA27. The BTA27 map was
compared with available mapping and annotated sequence data for the chromosome and a generated comparative map displays conserved
syntenic chromosome blocks between cattle, human, and mouse. The new anchor loci identify and narrow down evolutionary breakpoints
on a cytogenetic level and can help to support the cattle genome assembly and annotation process. 相似文献
18.
Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes
Gordon Dewald Jack L. Spurbeck Hymie Gordon Holger Hoehn 《American journal of medical genetics. Part A》1978,1(4):445-460
Chromosomes from four patients with variants of the Turner syndrome were investigated by G- and C- banding and DNA replication techniques. Their karyotypes were: 1) 46,X,idic(X)(q28), 2) 45,X/46,X,idic(X)(q24), 3)45,X/ 46,X,idic(X)(p11), and 4) 46,X,i(Xq). In Patients 1, 2, and 3, the abnormal X was isodicentric, with different break-and-fusion points in each case. In each, the G-band pattern on one side of the breakpoint was a mirror image of that on the other side. Each had two distinct C-bands, only one of which was associated with a primary constriction. The fourth patient had an isochromosome of the long arm of an X in which only one C-band could be discerned. Replication studies were done on lymphocyte cultures by incorporating a thymidine analogue and staining with acridine orange. In addition, replication patterns of normal early- and late-replicating X chromosomes were studied in two normal females. In the four patients, all the normal X chromosomes had normal early-replication patterns. The two idic(X) chromosomes with break-and-fusion points on their long arms almost always had symmetric replication patterns, which demonstrates that the corresponding bands replicated synchronously. In contrast, many of the idic(X)(p11) and i(Xq) chromosomes showed asymmetric or asynchronous replication. In each, the replication pattern of the abnormal X was similar to the equivalent portions of a normal late-replicating X. 相似文献
19.
The chromatin condensation behaviour of the human X chromosome has been studied by fluorescencein situ hybridization (FISH) analysis in germ cells and Sertoli cells of the adult testis, and comparisons are made with previous findings for the human Y chromosome and for chromosome 7. In meiotic prophase, the X chromosome can be seen to extend greatly at zygotene and to contract through pachytene into the sex vesicle. Such extension, which has also been noted for the human Y chromosome at this stage of meiosis, could be a prerequisite for XY pairing and crossing-over. Byin situ hybridization analysis, the sex chromosomes of patients with Sertoli-cell-only syndrome appear extremely contracted compared with the normally extended state of those in adult Sertoli cells of fertile men. By contrast, the state of expansion for chromosome 7 in Sertoli cells appears identical for sterile and fertile testes. This could suggest an association between gene-controlled germ cell losses and failure of expansion of the sex chromosome axes. The variable patterns of extension and contraction for the X and Y chromosome axes in germ cells and Sertoli cells might provide underlying clues to patterns of expression noted for sex-linked genes in the human testis. 相似文献
20.
Wenhui Nie Jinhuan Wang Weiting Su Yingxiang Wang Fengtang Yang 《Chromosome research》2009,17(3):321-329
The Chinese pangolin (Manis pentadactyla), a representative species of the order Pholidota, has been enlisted in the mammalian whole-genome sequencing project mainly
because of its phylogenetic importance. Previous studies showed that the diploid number of M. pentadactyla could vary from 2n = 36 to 42. To further characterize the genome organization of M. pentadactyla and to elucidate chromosomal mechanism underlying the karyotype diversity of Pholidota, we flow-sorted the chromosomes of
2n = 40 M. pentadactyla, and generated a set of chromosome-specific probes by DOP-PCR amplification of flow-sorted chromosomes. A comparative chromosome
map between M. pentadactyla and the Malayan pangolin (Manis javanica, 2n = 38), as well as between human and M. pentadactyla, was established by chromosome painting for the first time. Our results demonstrate that seven Robertsonian rearrangements,
together with considerable variations in the quantity of heterochromatin and in the number of nucleolar organizer regions
(NORs) differentiate the karyotypes of 2n = 38 M. javanica and 2n = 40 M. pentadactyla. Moreover, we confirm that the M. javanica Y chromosome bears one NOR. Comparison of human homologous segment associations found in the genomes of M. javanica and M. pentadactyla revealed seven shared associations (HSA 1q/11, 2p/5, 2q/10q, 4p+q/20, 5/13, 6/19p and 8q/10p) that could constitute the potential
Pholidota-specific signature rearrangements. 相似文献