bluuebunny/crossref_metadata_2025 huggingface dataset:
Localization of the human cholecystokinin-B/gastrin receptor gene (CCKBR) to chromosome 11p15.5→p15.4 by fluorescence in situ hybridization
Authors: Zimonjic D.B. , Popescu N.C. , Matsui T. , Ito M. , Chihara K.
Published: May 2008

A human cholecystokinin-B/gastrin receptor cDNA (CCKBR) has been recently cloned and its transcriptional product has been characterized. The cDNA probe was mapped by fluorescence in situ hybridization to chromosome 11 at bands p15.5→p15.4. The localization of this receptor gene provides a useful marker for this region of chromosome 11 permitting the identification of diseases involving the gene and interactions with other genes.
Localization of the telomeric (TTAGGG)n sequence in chicken (Gallus domesticus) chromosomes
Authors: Nanda I. , Schmid M.
Published: May 2008

The distribution of the highly conserved eukaryotic telomeric (TTAGGG)n sequence was investigated in chicken metaphase chromosomes using the FISH technique. Besides the expected telomeric locations, interstitial as well as centromeric locations of the (TTAGGG)n repeat were observed on several macrochromosomes. The microchromosomes display three discrete patterns of labeling with this repeat. The significance of this extreme-different distribution of the telomeric related sequence in chicken chromosomes may lie in pointing to structural events that might have occurred during the process of karyotype evolution.
First meiotic division abnormalities in human oocytes: mechanism of trisomy formation
Authors: Angell R.R. , Xian J. , Keith J. , Ledger W. , Baird D.T.
Published: May 2008

Trisomy is the single most frequent type of chromosome abnormality in humans and has considerable impact on many aspects of human pathology. It arises most commonly through “nondisjunction” at maternal meiosis I, but the underlying mechanism of formation remains obscure. Analysis of 100 haploid oocytes at second meiotic metaphase shows that the only type of chromosome abnormality compatible with trisomy formation after fertilisation is the presence of single chromatids in addition to, or replacing, whole chromosomes. The mechanism resulting in the presence of single chromatids is considered to be precocious division of univalents or dyads at first meiotic anaphase.
Characterization of a human chromosome 4 flow-sorted cosmid library
Authors: Riess O. , Siedlaczck I. , Kredtke S. , Melmer G. , Epplen J.T. , Deaven L.L.
Published: May 2008

A cosmid library has been constructed from a hamster × human hybrid cell line and gridded into 270 microtiter plates containing a total of 25,920 single colonies. Approximately 84% of the recombinants contain human material, with an average length of 29 kb. This library represents a nearly three-fold coverage of human chromosome 4. We investigated this library for presumptive genes, using a set of oligonucleotides detecting Spl and splice-site consensus sequences. The presence of simple repeat motifs was investigated in the cosmids using the oligonucleotides (GGATTT)3, (GGAT)4, (CAC)5, (GCC)5, (AGC)5, (GATA)4, (GACA)4, and (CA)8 as hybridization probes.
Molecular analysis of a human Y;1 translocation in an azoospermic male
Authors: Maraschio P. , Tupler R. , Dainotti E. , Cortinovis M. , Tiepolo L.
Published: May 2008

Cytogenetic studies on an azoospermic male revealed a balanced Y;l translocation: 46, X, t(Y;l)(ql2;p34.3). In situ hybridization with the probe St35–239 (DXY64) and with a probe detecting telomeric sequences revealed that only the Y telomere is involved in the translocation. Fluorescence in situ hybridization with a chromosome 1 library on meiotic preparations revealed consistent contact of the painted chromosome 1 with the sex vesicle at pachytene, the most advanced stage of spermatogenesis observed. No deletions were observed after Southern blot analysis with probes p49f (DYS1), 50f2 (DYS7), and 52d (DYF27), which map in interval 6 of the Y chromosome, which includes the azoospermia factor (AZF) gene. The results indicate that the infertility of the translocation carrier could be due to an alteration of the sex vesicle structure or to a disturbance of X-chromosome inactivation as a result of the proximity to the autosomal portion.
Assessment of Vocal Capacity of Finnish University Students
Authors: Leino Timo , Laukkanen Anne-Maria , Ilomäki Irma , Mäki Elinita
Published: May 2008

This article summarizes the results for a total of 189 female and 63 male university students (mean age 23 and 26 years, respectively) from the following vocal capacity tests: measurement of (1) vital capacity, (2) average airflow in phonation (on [o:]), (3) maximum duration of sustained blowing, (4) maximum phonation time (on [o:, z:]), (5) maximum duration of [s:], (6) the ratio of the duration of [s:] to [z:] (s/z ratio), (7) phonation quotient (the ratio between vital capacity and maximum phonation time), (8) the lowest possible tone, (9) mean fundamental frequency (F0) in normal and loud text reading and in shouting, (10) difference between the lowest tone and mean F0 in text reading and in shouting, (11) F0 range in text reading, (12) equivalent sound level of normal and loud reading and of shouting in maximum loudness, (13) phonetogram (voice range profile) and (14) long-term average spectrum of text reading. Voice quality is also evaluated perceptually, and additionally, data on subjects’ self-reported vocal fatigue symptoms in general or after a vocally loading task were collected. The value of these measurements from the point of view of assessment of vocal capacity will be discussed.
Spontaneous sister chromatid differentiation (SCD) and sister chromatid exchange (SCE) in mouse blastocyst chromosomes
Authors: Patkin E.L. , Kustova M.E. , Dyban A.P.
Published: May 2008

The phenomenon of spontaneous differentiation (without bromodeoxyuridine in the culture medium) of sister chromatids of mouse chromosomes at the blastocyst stage of embryogenesis is described. The frequency of sister chromatid exchanges in such differentiated chromosomes was calculated.
Regional mapping of the human NSP gene to chromosome region 14q21→q22 by fluorescence in situ hybridization analysis
Authors: Kools P.F.J. , Roebroek A.J.M. , van de Velde H.J.K. , Marynen P. , Bullerdiek J. , Van de ven W.J.M.
Published: May 2008

Genetic sequences of the novel NSP gene, which encodes neuroendocrine-specific proteins, were isolated from cDNA libraries constructed with mRNA isolated from human lung carcinoma cells. Hybridization analysis of a panel of human × mouse cell hybrids with an 0.8-kb NSP cDNA probe indicated that the human NSP gene is probably located on chromosome 14. Fluorescence in situ hybridization analysis of metaphase chromosomes using overlapping genomic clones of NSP as a probe localized the NSP gene to chromosome region 14q21→q22.
Segregation analysis of the mouse Rb(6.16) translocation in zygotes produced by heterozygous female carriers
Authors: Aranha I.P. , Martin-DeLeon P.A.
Published: May 2008

The segregation products in zygotes of females heterozygous for the mouse Rb(6.16) translocation were studied. Of 191 first-cleavage metaphase zygotes recovered from 16 females mated to chromosomally normal males, 132 were cytogenetically analyzed after sequential G- and C-banding. There were no products of adjacent segregation, since the six chromosomal imbalances were unrelated to the translocation. Alternate segregation was seen in 126 (95.5%) of the zygotes, with 85 being chromosomally normal and 41 carrying the translocation. These results indicate preferential alternate segregation and a significant deviation from the Mendelian 1:1 ratio (P < 0.005) for reciprocal alternate segregants, as seen earlier for males with this translocation. However, the approximately 2:1 ratio for normal-to-balanced segregants in females is lower than the ratios consistently seen for males. This supports the notion that there are different underlying causes of the distortion in the sexes.
A transfected human ribosomal RNA gene is present in the nucleolus of human cells
Authors: Hadjiargyrou M. , McDowell K.A. , Henderson A.S.
Published: May 2008

Intraspecies transfection of ribosomal RNA genes (rDNA) into human fibroblasts was used to reexamine characteristics of the rDNA complex which lead to participation in nucleolar formation. Two constructs of human rDNA were analyzed. One included an intact transcribed spacer and promoter region and most of the nontranscribed spacer (NTS) region. The second contained the transcribed spacer and much of the NTS region, but lacked the transcription initiation region. Transfected rDNA, shown to be present in single or low copy number and containing the promotor region, was present in nucleoli. In contrast, transfected rDNA lacking the promotor did not participate in nucleolar organizing region (NOR) formation. We conclude from this study that tandem repetition, a feature of rDNA organization, is not an absolute requirement for rDNA function and that the presence of the rDNA transcription initiation region and promotor is necessary in establishing an active NOR.
Transcription of rDNA is essential for satellite association
Authors: McDowell K.A. , Hadjiargyrou M. , Patsalis P. , Henderson A.S.
Published: May 2008

A nonacrocentric human chromosome containing transfected human ribosomal DNA was analyzed for participation in nonrandom satellite associations with acrocentric chromosomes. Two constructs were tested. The first contained the complete rDNA transcriptional unit plus flanking DNA and was inserted at chromosome 3p13→p12 following transfection. The region was silver-positive indicating active transcription. The transcriptionally active rDNA participated in satellite association with other rDNA-bearing chromosomes at a rate 15 % above random background associations. The second construct lacked the promoter region. This rDNA integrated at chromosome 4q31→q32, and was silver stain-negative. Non-random associations with other rDNA-bearing chromosomes were not observed. The study demonstrates that the DNA critical to nonrandom satellite associations is rDNA per se and that active transcription is a requirement.
Chromosomal localization of two genes encoding human ras exchange factors: SOS1 maps to the 2p22→p16 region and SOS2 to the 14q21→q22 region of the human genome
Authors: Chardin P. , Mattei M-G.
Published: May 2008

The human SOS1 and SOS2 genes encode proteins that control GDP→GTP exchange on ras proteins and are involved in signal transduction by tyrosine kinase receptors. In situ hybridization shows that SOS1 maps to 2p22→p16 and SOS2 to 14q21→q22 in the human genome.
In situ hybridization approach at infragenic level on metaphase chromosomes
Authors: Lemieux N. , Malfoy B. , Fetni R. , Muleris M. , Vogt N. , Richer C.L. , Dutrillaux B.
Published: May 2008

Analysis of the retinoblastoma locus (RBI) by in situ hybridization at the infragenic level was done using human chromosomes. A high level of resolution was attained with non-isotopic in situ hybridization on banded chromosomes in both fluorescence and electron microscopy. DNA sequences less than 100 kb apart could be positioned on band 13q14 in the order expected from molecular mapping. These observations suggest that the DNA target of hybridized probes on metaphase chromosomes may correspond to nucleoprotein loops giving a resolution comparable to that obtained in interphase nuclei.
Assignment of the human moesin gene (MSN) to chromosome region Xq11.2→q12
Authors: Kishino T. , Ariga T. , Soejima H. , Tamura T. , Ohta T. , Jinno Y. , Yonemura S. , Sato N. , Tsukita Sa. , Tsukita Sh. , Sakiyama Y. , Niikawa N.
Published: May 2008

The human moesin gene (MSN) was mapped to the long arm of the X chromosome. PCR products for the moesin gene cDNA were used as probes to isolate their corresponding cosmid clones. Fluorescence in situ hybridization (FISH) with two of the isolated cosmid probes showed signals at Xq11.2→q12, whereas four other cosmids showed FISH signals on chromosome 5. Southern blot hybridization, using a PCR product corresponding to the 3’ region of the moesin gene cDNA as a probe (probe-3), on one of the two cosmids that produced signals on the X chromosome gave 5.7- and 3.5-kb HindIIIfragments. Further Southern hybridization of the DNA from XY, XX, and XXXXX individuals using probe-3 revealed a gene-dose effect of the X chromosome on the size of a 3.5-kb and a 3.0-kb HindIIIfragment; in contrast, an invariant 9.8-kb band was present in the DNA of all individuals tested. Sequencing of an exon-intron border revealed that the two cosmids had predicted sequences. These results indicated that the two cosmids contained MSN, and it was consequently assigned to human chromosome region Xq11.2→q12. These results strongly suggest that MSN may be removed from candidacy for Wiskott-Aldrich syndrome, which has been putatively mapped to Xp11.3→p11.22.
Assignment of TK1 encoding thymidine kinase to Syrian hamster chromosome 9 by microcell-mediated chromosome transfer
Authors: Islam K. , Islam M.Q.
Published: May 2008

We report here the assignment of TK1, the gene for thymidine kinase to Syrian hamster (Mesocricetus auratus) chromosome 9 (MAU9) by complementation mapping. Syrian hamster chromosomes derived from a wild type (TK+) subline of BHK cells were introduced via microcell-mediated chromosome transfer into B82 mouse cells deficient in thymidine kinase (TK-), a defect that prevents their growth in HAT culture media. Hybrid clones were selected in HAT media. Chromosome analyses of the microcell hybrids showed that the thymidine kinase deficiency of B82 cells was corrected by MAU9. Therefore, we assigned TK1 to MAU9. Previously, TK1 was assigned to mouse chromosome 11 (MMU11), rat chromosome 10 (RNO10), Chinese hamster chromosome 7 (CGR7), and human chromosome 17 (HSA17). The striking banding homology of MAU9 with RNO10, MMU11, CGR7 and HSA17 provides additional support for the assignment of TK1 to MAU9. To our knowledge, this is the first report of gene assignment to a specific Syrian hamster chromosome using the somatic cell hybridization technique.
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm
Authors: Bischoff F.Z. , Nguyen D.D. , Burt K.J. , Shaffer L.G.
Published: May 2008

Single color fluorescence in situ hybridization (FISH) has been utilized on sperm to estimate nondisjunction rates for chromosomes 1, 12, 15, 16, X and Y. Using single-color FISH, one cannot distinguish nonhybridization from nullisomy nor disomy from diploidy. In order to provide an internal control, a multicolor FISH strategy was employed. Satellite probes specific for 13 human chromosomes were used on multiple semen samples from two normal donors. Two or three probes were hybridized simultaneously and scored by two independent observers. Over all experiments, 40,641 sperm were analyzed. The majority of autosomes had no significant difference in aneuploidy between chromosomes or between donors. However, a significant difference was observed for chromosome 18 between donors (χ22 = 7.078, 0.025 < P < 0.05). Additionally, no significant difference was found between donors for sex chromosome aneuploidy. The frequency of sex chromosome aneuploidy was similar to that seen in paternally derived 47, XXY and 47, XYY conceptuses. Furthermore, 0.15% of sperm were found to be diploid. Based on the results of this study, as much as 19% of all sperm may be chromosomally abnormal. This method proved to be useful for determining aneuploidy of human chromosomes in sperm and valuable in exploring whether individual differences of nondisjunction exist.
Genetic linkage of proteolipid protein (PLP) and thyroxine-binding globulin (TBG) on the ovine X chromosome
Authors: Sise J.A. , Hanrahan V. , Montgomery G.W. , Hill D.F.
Published: May 2008

Restriction fragment length polymorphisms (RFLPs) demonstrating X-linked inheritance have been identified for proteolipid protein (PLP) and thyroxine-binding globulin (TBG) in sheep. Genetic linkage between ovine PLP and TBG was examined in a three-generation flock containing 122 individuals. Significant linkage between the loci was observed with a combined lod score of 7.48 at a recombination fraction of 5 cM.
Subregional mapping of 8 single copy loci to chromosome 6 by fluorescence in situ hybridization
Authors: Rao P.H. , Murty V.V.V.S. , Gaidano G. , Hauptschein R. , Dalla-Favera R. , Chaganti R.S.K.
Published: May 2008

We have subregionally mapped 8 independently derived probes which have been assigned to chromosome 6 (D6S61, D6S134, D6S149, D6S155, MACS, VIL2, IGF2R and PLG) by FISH. All the probes were mapped to the long arm of chromosome 6 except D6S61, which was assigned to the short arm at 6p25. The remaining probes were clustered at the 6q25→q27 region except MACS which was mapped to 6q22.2.
Isolation of region specific single-copy probes from human chromosome 1q23→1q25
Authors: Seltmann M. , Böhm M. , Walter T. , Schmitz G. , Patterson D. , Wieland I.
Published: May 2008

Single-copy sequences of chromosome bands 1q23 →1q25 were enriched by subtractive hybridization of digoxigenin oligonucleotide-labeled DNA from a somatic cell hybrid containing human chromosome 1 with DNA from a somatic cell hybrid containing a deleted human chromosome 1 del(l)(q23q25). These sequences were purified with an immobilized anti-digoxigenin antibody, amplified by polymerase chain reaction (PCR) and cloned. The majority of clones contained single-copy sequences, thus allowing direct screening of human genomic DNA. With pools of probes complex hybridization patterns as well as differences in hybridization patterns between genomes were observed in Southern blotting experiments. Nine clones containing independent single-copy sequences from chromosome bands 1q23→1q25 were isolated and sequenced to generate sequence-tagged sites (STSs). Using PCR, region specific genomic clones containing large inserts were identified in human genomic lambda phage and cosmid libraries. Thus, region specific genomic probes generated by genomic difference cloning are useful for identifying deletions and rearrangements, for generating STSs and for isolating genomic clones containing large inserts of a particular chromosomal region.
In situ hybridization mapping of human chromosome 16: evidence for a high frequency of repetitive DNA sequences
Authors: Okumura K. , Menninger J. , Stallings R.L. , Doggett N.A. , Ward D.C.
Published: May 2008

Fluorescence in situ hybridization (FISH) provides a rapid approach to regional localization of overlapping clone sets (contigs) developed by various fingerprinting approaches. We have used 70 cosmid clones derived from 48 different contigs, part of the developing contig map of chromosome 16 (Stallings et al., 1990, 1992a), to cytogenetically map an estimated 8.6 million base pairs (Mbp) of chromosome 16 DNA (∼8–9 % total coverage). Although the majority of cosmid contigs hybridized to single sites on chromosome 16, a significant fraction (23 %) hybridized to multiple regions on chromosome 16; a subset of these also hybridized to other human chromosomes. In most instances, clones that mapped to multiple locations were found to contain low-abundance repetitive DNA sequences.The FISH data presented here, coupled with published mapping data from somatic cell hybrids (Callen et al., 1992), permits mdependent verification of the integrity of chromosome 16 cosmid contigs. The order of clones derived by FISH agrees closely with the cell hybrid mapping data and can be correlated with chromosome bands and specific chromosomal translocation breakpoints.
Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5
Authors: Loftus S.K. , Shiang R. , Warrington J.A. , Bengtsson U. , McPherson J.D. , Wasmuth J.J.
Published: May 2008

The distal portion of the long arm of chromosome 5 (5q) contains a large number of genes encoding membrane receptors belonging to various gene families, including G protein-coupled adrenergic receptors. Previous reports indicated that the genes for two of the adrenergic receptors, ADRB2 and ADRA1B, were within 300 kb of one another on 5q. In an effort to determine if a third adrenergic receptor assigned to 5q, ADRA1A, was physically close to the genes encoding the other adrenergic receptors, we attempted to place all three loci on a radiation hybrid map of 5q. The results conflicted with previous mapping results in two ways. First, ADRA1B is on 5q but is several million bases, rather than a few hundred thousand bases, from ADRB2. Second, ADRAl A is not on chromosome 5, but rather on chromosome 20. Thus, even though 5q contains an extraordinary number of genes encoding receptors for various hormones, growth factors, and neurotransmitters, there is no particular clustering of genes encoding adrenergic receptors in this region.
Effect of chromosome size on aberration levels caused by gamma radiation as detected by fluorescence in situ hybridization
Authors: Pandita T.K. , Gregoire V. , Dhingra K. , Hittelman W.N.
Published: May 2008

Fluorescence in situ hybridization (FISH) is a powerful technique for detecting genomic alterations at the chromosome level. To study the effect of chromosome size on aberration formation, we used FISH to detect initial damage in individual prematurely condensed chromosomes (PCC) of γ-irradiated G₀ human cells. A linear dose response for breaks and a nonlinear dose response for exchanges was obtained using a chromosome 1-specific probe. FISH detected more chromosome 1 breaks than expected from DNA based extrapolation of Giemsa stained PCC preparations. The discrepancy in the number of breaks detected by the two techniques raised questions as to whether Giemsa staining and FISH differ in their sensitivities for detecting breaks, or is chromosome 1 uniquely sensitive to γ-radiation. To address the question of technique sensitivity, we determined total chromosome damage by FISH using a total genomic painting probe; the results obtained from Giemsa-staining and FISH were nearly identical. To determine if chromosome 1 was uniquely sensitive, we selected four different sized chromosomes for paint probes and scored them for γ-ray induced aberrations. In these studies the number of chromosome breaks per unit DNA increased linearly with an increase in the DNA content of the chromosomes. However, the number of exchanges per unit of DNA did not increase with an increase in chromosome size. This suggests that chromosome size may influence the levels of aberrations observed. Extrapolation from measurements of a single chromosome’s damage to the whole genome requires that the relative DNA content of the measured chromosome be considered.
Standard Karyotype of the river buffalo (Bubalus bubalis L., 2n = 50)
Authors: lannuzzi L.
Published: May 2008

During the 10th European Colloquium on Cytogenetics of Domestic Animals held in Utrech, The Netherlands, in 1992, an international committee on river buffalo chromosomes was established. At the recent 8th North American Colloquium on Domestic Animal Cytogenetics and Gene Mapping in Guelph, Canada (1993), Q-, G- and R-banded river buffalo karyotypes were presented and discussed. This material was used to establish the first standard karyotype of the river buffalo.
Mapping recombinant events with molecular markers in hemochromatosis pedigrees
Authors: Radisky E.S. , Ajioka R.S. , Edwards C.Q. , Griffen L.M. , Kushner J.P.
Published: May 2008

The gene responsible for hereditary hemochromatosis (HH) is tightly linked to the class I region of the human leukocyte antigen (HLA) complex. Initial studies designed to map the disease locus have relied on serological markers for the class I antigens. Molecular markers from this region can now be used in combination with HLA serotyping for mapping studies. We previously reported two pedigrees in which serological data indicated recombinant events within the class I region. These data suggested a location for the HH locus between HLA-A and HLA-B. Molecular mapping studies have allowed us to demonstrate that an apparent recombination in one pedigree did not occur. This approach has also produced a more precise centromeric boundary for the region containing the disease locus, telomeric of HLA-C. These results emphasize the importance of including both serological and molecular markers in pedigree studies aimed at fine mapping the HH locus.
Characterization of a yeast artificial chromosome from human chromosome band 13q12 containing the FLT1 and FLT3 receptor-type tyrosine kinase genes
Authors: Imbert A. , Rosnet O. , Marchetto S. , Ollendorff V. , Birnbaum D. , Pébusque M.-J.
Published: May 2008

A yeast artificial chromosome containing the two receptor-type tyrosine kinase genes FLTl and FLT3 was isolated, analyzed, and compared to a genomic map in order to establish their organization and linkage. FLTl and FLT3 are physically linked in a head-to-tail configuration and separated by about 150 kb. The region contains three CpG islands. Two of them are likely to correspond to FLTl and FLT3, whereas the third one is suggestive of another putative, unidentified RTK gene.
Higher female than male recombination rates in a marsupial mammal, the tammar wallaby (Macropus eugenii)
Authors: McKenzie L.M. , Poole W.E. , Collet C. , Cooper D.W.
Published: May 2008

Previous work has shown that females have lower recombination rates than males in two distantly related marsupial species, an American didelphid and an Australian dasyurid. We report here that the tammar wallaby (Macropus eugenii), which belongs to a third major group, has higher female recombination rates in two linked pairs. The nature of the sex differences in recombination rates in this species is thus similar to the situation in eutherian mammals.
Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel α-subunit gene (SCN5A) to band 3p21
Authors: George, Jr. A.L. , Varkony T.A. , Drabkin H.A. , Han J. , Knops J.F. , Finley W.H. , Brown G.B. , Ward D.C. , Haas M.
Published: May 2008

The chromosomal location of SCN5A, the gene encoding the principal voltage-gated Na+ channel expressed in human heart, has been determined by three independent methodologies: somatic cell hybrid mapping, chromosomal micro-dissection-polymerase chain reaction, and fluorescence in situ hybridization. The SCN5A gene was assigned to the short arm of chromosome 3 (band 3p21) by all three approaches. These data are further evidence that striated muscle Na+ channel genes are dispersed in the genome.
G- and R-banding comparison of sheep (Ovis aries L.) chromosomes
Authors: lannuzzi L. , Di Meo G.P. , Perucatti A. , Ferrara L.
Published: May 2008

G- and R-banded chromosomes of 14 Gentile di Puglia sheep (Ovis aries L., 2n = 54) from southern Italy were compared at the 450-band level (ISCNDA, 1989). GTG-, GBG-, RBG-, and RBA-banding techniques were employed on slides obtained from blood cell cultures that had incorporated BrdU either early or late in the replication cycle. The banding comparison improved the characterization of sheep chromosomes and allowed the construction of G- and R-banded idiograms using only one common banding nomenclature. Detailed descriptions of some disputed chromosomes are reported.
A high-resolution cytogenetic map of human chromosome 2: localization of 434 cosmid markers by direct R-banding fluorescence in situ hybridization
Authors: Takahashi E. , Koyama K. , Hirai M. , Itoh H. , Nakamura Y.
Published: May 2008

We have constructed a high-resolution cytogenetic map of human chromosome 2 with 434 newly isolated cosmid markers by means of direct R-banding fluorescence in situ hybridization. Two markers were mapped to the centromeric region, 173 to the short arm, and 259 to the long arm. The clones were evenly distributed along the entire chromosome, athough a tendency toward clustering in R-positive bands was observed. The mapped cosmids provide useful landmarks for construction of a contig map and for positional cloning of cancer-associated genes, as well as genes responsible for hereditary diseases.
Assignment of the human α-tropomyosin gene TPM3 to 1q22→q23 by fluorescence in situ hybridisation
Authors: Wilton S.D. , Eyre H. , Akkari P.A. , Watkins H.C. , MacRae C. , Laing N.G. , Callen D.C.
Published: May 2008

The human tropomyosin 3 (TPM3) gene was previously localized to chromosome 1. The non-muscle isoform of the TPM3 gene product becomes fused to a gene product from the tyrosine kinase receptor gene (NTRKl), previously localized to 1q23→q24, to generate an active oncogene. Two sequence tagged sites spanning three exons and two introns in the carboxy coding region of the gene were used to localize TPM3 to 1q22→q23 by fluorescence in situ hybridization. This localization now places the NTRKl and TPM3 genes in close proximity, so that a gene fusion rearrangement would not be cytologically detected. The 1q22→q23 localization of TPM3 is within the NEM1 locus associated with autosomal dominant nemaline myopathy, making TPM3 a candidate for this disorder.
Physical linkage of the gene cluster containing the LCAT gene to the DNA marker D16S124 at human chromosome region 16q22.1
Authors: Frengen E. , Brede G. , Larsen F. , Skretting G. , Prydz H.
Published: May 2008

Pulsed-field gel electrophoresis has been used to construct a long-range restriction map spanning more than 900 kb in the q22.1 region of human chromosome 16. The gene cluster containing the lecithinxholesterol acyl transferase (LCAT) gene is located less than 480 kb from the anonymous DNA marker D16S124 in this map. The results suggest three putative CpG islands within 125 kb, in addition to the island previously shown to be located within the gene cluster. This implies a clustering of both genes and CpG islands in this chromosomal region.
Chromosome mapping of 11 human probes in the region 5q2→q3 by fluorescence in situ hybridization
Authors: Richard F. , Muleris M. , Dutrillaux B.
Published: May 2008

Using single- and double-color fluorescence in situ hybridization (FISH), 11 probes from the human chromosome region 5q2→q3 are mapped. The following map order is proposed, from proximal to distal: 5q21.3→q22: 15A6 (D5S136), YN5.64, CRI-L372 (D5S49), YN5.48 (D5S81); 5q22: EF5.44 (D5S135), APC; 5q22→q23.1: CI5.23, L5.69 (D5S137), CRI-T39 (D5S64), MC5.61 (D5S84); 5q31.1→ q31.2:CRI-L1265(D5S52).
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3
Authors: Redeker E. , Alders M. , Hoovers J.M.N. , Richard III C.W. , Westerveld A. , Mannens M.
Published: May 2008

A physical map encompassing the 3 Mb region containing the breakpoints of two Beckwith-Wiedemann Syndrome patients at chromosome band 11p15.3 is presented. The candidate tumor suppressor genes WEE1 ST5, and rhombotin, are positioned on this map relative to these Beckwith-Wiedemann syndrome translocation and inversion breakpoints.
Male sterility and double heterozygosity for chromosomal inversion
Authors: Rumpler Y. , Gabriel-Robez O. , Volobouev V. , Yu W. , Rasamimanana P. , de Perdigo A.
Published: May 2008

A meiotic analysis has been carried out on male mice heterozygous for one of two inversions in Chromosome 2, In(2)5Rk and In(2)2H, as well as on double heterozygotes for these two overlapping inversions. Electron microscopic observation of synaptonemal complexes revealed that heterosynapsis had occurred in a large number of spermatocytes, producing a small number of cells with an inversion loop. Heterozygous carriers of a single inversion loop reproduced quite normally, whereas doubly heterozygous carriers of a double loop showed a reduction in spermatogenesis. These data shed new light on the role of inversions in speciation.
Genetic characterization of general transcription factors TFIIF and TFIIB of Homo sapiens sapiens
Authors: Purrello M. , Di Pietro C. , Rapisarda A. , Mirabile E. , Motta S. , Sichel G. , Grzeschik K.-H.
Published: May 2008

Analysis of loci GTF2F1 and GTF2B, encoding Rap 74 (a subunit of TFIIF) and TFIIB, respectively, showed that they are present in a single copy in the human genome and are localized at 19p13.3 and 1p22, respectively. By using as probe a cDNA for Rap 30 (the other subunit of TFIIF), we localized the GTF2F2 locus to 13q14; the same probe also detected a cross-hybridizing sequence at 4q31 whose functional importance remains to be elucidated. These data and those previously published by our group demonstrate that genes coding for class II general transcription factors with reported sequence similarity to bacterial sigma proteins are scattered in different regions of the human genome, with no evidence of clustering. This dispersion and the identification of homologs of both TBP and TFIIB in Archαeα suggest an early evolutionary origin of the general transcription apparatus of contemporary eukaryotes.
Eigenanalysis of DAPI-stained chromosomes: tools and strategies toward computer-assisted analysis of FISH experiments
Authors: Knapp R.D. , Smith L.C. , Baldini A.
Published: May 2008

The fluorescent dye 4’,6-diamidino-2-phenylindole (DAPI) is widely used as a chromosome counterstain in fluorescence in situ hybridization (FISH) studies. It produces a Q-banding pattern that allows for both chromosome identification and the assignment of molecular probes to specific chromosome bands. Using a statistical procedure based on eigenanalysis, we have extracted features from digital images of DAPI-stained chromosomes and constructed prototypes of each of the 24 human chromosomes. The features of these prototypes are directly proportional, in intensity profile and band location, to those of real chromosomes. The prototype’s intensity profile can be translated into cytogenetic bands to provide a computer-based strategy for chromosome mapping and analysis amenable to automation. Data presented here were obtained using images from the 24 human chromosomes and mouse X chromosome. Moreover, the same procedure is general and can be used for the analysis of chromosomes from other species, as well as with banding techniques other than those using DAPI.
CEPH Consortium Map of Chromosome 14
Authors: Cox D.W. , Billingsley G.D. , Bale A.E. , Donis-Keller H. , Edwards J.H. , Litt M. , Mcbride W. , Persichetti F. , Spurr N.K. , Weber J.L. , Weissenbach J. , White R.L.
Published: May 2008

Families from the linkage panel of Centre d’Etude du Polymorphisme Humain have been used to generate a linkage map containing 68 loci; 13 genes, 33 di- and 4 tetranucleotide repeats, one oligonucleotide ligation assay (OLA), and 17 RFLPs. This map integrates markers from several previous maps, and has undergone further error checking. 43 loci have been placed with odds of 1000:1 or greater, five with odds of 100:1, with an average interval of 3.5 cM. An additonal 20 loci have been placed within defined intervals.
Localization of the gene (SLC1A3) encoding human glutamate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization
Authors: Takai S. , Yamada K. , Kawakami H. , Tanaka K. , Nakamura S.
Published: May 2008

The glutamate transporter takes up glutamate to terminate neurotransmission and to prevent neuronal cell death. Chromosomal location of the human glutamate transporter, hGluT-1, gene (SLC1A3) was determined by fluorescence in situ hybridization. SLC1A3 was mapped to chromosome 5p13.
Confirmed assignment of a novel human tyrosine kinase gene (JAK1A) to 1p32.3→p31.3 by nonisotopic in situ hybridization
Authors: Modi W.S. , Farrar W.L. , Howard O.M.Z.
Published: May 2008

JAK1A is a recently isolated class 3 (nonreceptor) tyrosine kinase that has catalytic domain sequence homology with other kinases and is known to be ubiquitously expressed in all human tissues thus far examined. The gene for this enzyme had previously been localized to chromosome 1 using somatic cell hybrids and linkage analyses. In the present study, fluorescence in situ hybridization was utilized to confirm its localization and regionally assign the gene to chromosome region 1p32.3→p31.3.
Isolation and characterization of radiation hybrids for human chromosome 12
Authors: Höglund M. , Sidén T. , Åman P. , Mandahl N. , Mitelman F.
Published: May 2008

We have used an irradiation and fusion procedure to generate somatic cell hybrids that maintain fragments of human chromosome 12. To identify hybrids retaining human material we performed repeat element-mediated PCR (intra-ALU PCR) on DNA extracted from individual cell clones. Twenty-five of 38 hybrids tested were shown to contain human material at low passage. These were further characterized by inter-ALU and inter-L1 PCR. FISH analysis, using human Cot1 DNA as a probe, revealed the presence of 1–2 fragments in 11 out of 12 hybrids. The majority of the hybrids, 8 out of 12, were found to be homogeneous. The hybrid panel was characterized by 18 markers with known locations covering the entire chromosome 12. Thirteen of the 25 hybrids were positive for at least one marker. The results indicated the following order of loci on 12q: Cen-WNTI-A2MR-RAPlB-D12S8-PTBR-ATP2B1-D12S7-D12S52-IGF1-PAH-PLA2-IFNG-ALDH2-ter. Three hybrids studied in more detail were found to carry overlapping fragments from chromosome segment 12q12→q14.
A new rat repetitive DNA family shows preferential localization on chromosome 3, 12 and Y after fluorescence in situ hybridization and contains a subfamily which is Y chromosome specific
Authors: Essers J. , de Stoppelaar J.M. , Hoebee B.
Published: May 2008

A DNA segment, containing a so far unknown repetitive DNA sequence has been isolated by reassociation of sheared total rat genomic DNA. FISH with this probe gave a strong hybridization signal on the satellites and in the centromeric region of chromosomes 3 and 12 and on the q-arm of the Y chromosome. A much weaker signal was seen in the centromeric region of chromosomes 11, 19 and X. The repeat unit of this repetitive DNA sequence is a 195–200 bp monomer, which is tandemly repeated. Screening of a rat genomic lambda library resulted in the isolation of variant members of this repeat family. FISH results with these members showed differences in their hybridization pattern especially when posthybridization washings were performed under higher stringency. Under these conditions one phage gave a strong hybridization signal only on the Y chromosome; other phage showed only weak hybridization patterns on different chromosomes. A subclone of the Y-specific phage was sequenced and showed large sequence homology with the 195–200 bp monomer. In Southern blot experiments this Y-specific sequence detects several male specific sequences, although some cross-hybridization with closely related sequences in both male and female DNA can also be observed.
Three members of the human cystatin gene superfamily, AHSG, HRG, and KNG, map within one megabase of genomic DNA at 3q27
Authors: Rizzu P. , Baldini A.
Published: May 2008

While constructing a contig in the human chromosome region 3q27, we identified two YAC clones that were positive for the polymorphic marker D3S1602. One of these clones was also positive for a sequence-tagged site derived from the kininogen (KNG) gene. Because of the known evolutionary and structural relationship of KNG to other members of the cystatin gene superfamily, we tested the physical linkage of the genes encoding alpha-2HS-glycoprotein (AHSG), KNG, and histidine-rich glycoprotein (HRG), all of which were previously mapped to the long arm of chromosome 3. Our results show the colocalization of the three genes in two independent, partially overlapping YAC clones. The genomic inserts of the two clones were 1 Mb and 1.3 Mb in size, indicating that the three genes map within 1 Mb of DNA. The largest YAC was also positive for the polymorphic marker D3S1262, substantiating previously reported data of genetic linkage between this marker and HRG. Fluorescence in situ hybridization localized the two YAC clones to chromosome band 3q27.
The invasion-inducing TIAM1 gene maps to human chromosome band 21q22 and mouse Chromosome 16
Authors: Habets G.G.M. , van der Kammen R.A. , Jenkins N.A. , Gilbert D.J. , Copeland N.G. , Hagemeijer A. , Collard J.G.
Published: May 2008

The murine invasion-inducing Tiaml gene maps to the distal end of chromosome 16, 3.8 cM centromeric of the Ets2 gene. TIAM1, the human homolog of Tiaml, maps to the syntenic region (q22) on human chromosome 21. The gene order in 21q22 is cen–TIAM1–AML1–ERG–ETS2–tel.
Two categories of synovial sarcoma defined by divergent chromosome translocation breakpoints in Xp11.2, with implications for the histologic sub-classification of synovial sarcoma
Authors: Renwick P.J. , Reeves B.R. , Dal Cin P. , Fletcher C.D.M. , Kempski H. , Sciot R. , Kazmierczak B. , Jani K. , Sonobe H. , Knight J.C.
Published: May 2008

Molecular analysis of a new series of synovial sarcomas confirms that t(X;18)(pl 1.2;q11.2) breakpoints occur at two distinct regions on Xp designated SS1 and SS2. Breakpoint position correlates with tumor phenotype. Monophasic tumors with no evidence of glandular components have breakpoints within the SS2 region in Xp11.21, and biphasic tumors with a focal poorly differentiated or extensive glandular structure have breakpoints within the SS1 region in Xp11.23.
Human gp130 transducer chain gene (IL6ST) is localized to chromosome band 5q11 and possesses a pseudogene on chromosome band 17p11
Authors: Rodriguez C. , Grosgeorge J. , Nguyen V.C. , Gaudray P. , Theillet C.
Published: May 2008

Human gp130 (IL6ST) is one of the most widely used chains of the cytokine receptor family. Indeed, it is involved in signal transduction of interleukin-6, interleukin-11 leukemia inhibitory factor, oncostatin M, and ciliary neurotrophic factor. In a previous report, IL6ST was assigned to chromosomes 5 and 17. Here we specify the chromosomal sub-localization of IL6ST and show that the sequence detected on 17p11 corresponds, in fact, to a nontranscribed pseudogene, whereas the active gene is located at chromosome band 5q11.
Comparative mapping of the immunoglobulin Cε1 gene (IGHE) in five species of nonhuman primates by fluorescence in situ hybridization
Authors: Tanabe H. , Ishida T. , Ueda S. , Sofuni T. , Mizusawa H.
Published: May 2008

The orthologous immunoglobulin CΕ1 gene (IGHE) of the common chimpanzee, pygmy chimpanzee, orangutan, white-handed gibbon, and Japanese macaque was assigned to the human chromosome 14 homologue in each species and regionally mapped by fluorescence in situ hybridization to PTR15q32 (common chimpanzee), PPA15q32 (pygmy chimpanzee), PPY15q32 (orangutan), HLA17qter (white-handed gibbon), and MFU7q29 (Japanese macaque). The gene localized to the terminal region of the chromosome in each species, and so this probe provides a new telomeric DNA marker for nonhuman primates.
Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12→q13
Authors: Carow C.E. , Kim E. , Hawkins A.L. , Webb H.D. , Griffin C.A. , Jabs E.W. , Civin C.I. , Small D.
Published: May 2008

We have previously reported the cloning of stem cell tyrosine kinase-1 (STK-1, gene symbol FLT3), the human homolog of the mouse Flk2/Flt3 gene (Small et al., 1994). This growth factor receptor is expressed in CD34+ human bone marrow (stem/progenitor) cells. We have mapped the gene for STK-1 using PCR screening of a human-rodent somatic cell hybrid panel, and fluorescence in situ molecular hybridization (FISH) of STK-1 genomic probes to mitotic chromosomes of normal human lymphocytes. The results of both analyses show that the gene for STK-1 (FLT3) localizes to chromosome 13q12→q13.
Chromosomal localization of a gene, GFI1 encoding a novel zinc finger protein reveals a new syntenic region between man and rodents
Authors: Bell D.W. , Taguchi T. , Jenkins N.A. , Gilbert D.J. , Copeland N.G. , Gilks C.B. , Zweidler-McKay P. , Grimes H.L. , Tsichlis P.N. , Testa J.R.
Published: May 2008

The Gfi1 gene encodes a zinc finger protein which binds DNA and is involved in transcriptional regulation. Gfi1 was assigned to the central portion of mouse Chr 5 by interspecific backcross mapping and to human chromosome band 1p22 and rat chromosome band 14p22 by fluorescence in situ hybridization (FISH). Comparative mapping data presented here describes a new syntenic region between man and rodents.
Identification of p and q arms of the blesbok (Damaliscus dorcas phillipsi, Alcelaphinae) RBG-banded chromosomes with comparison to other wild and domestic bovids
Authors: Claro F. , Hayes H. , Cribiu E.P.
Published: May 2008

The RBG banded karyotype (2n = 38) of the blesbok (Damaliscus dorcas phillipsi) comprises 8 pairs of metacentric, 3 pairs of submetacentric and 7 pairs of acrocentric autosomes. The X and Y chromosomes are acrocentric. The 11 pairs of biarmed chromosomes correspond to Robertsonian translocations involving the chromosomes equivalent to goat and cattle chromosomes: 1; 10, 4;5, 8; 17, 7;9, 6; 14, 13; 15, 12; 16, 20;22, 3; 19, 2;27 and 11;23 . The comparison of Blesbok karyotype with that of other species of Alcelaphinae and Hippotraginae reveals a high level of homoeology.
Viability, development and incidence of chromosome anomalies of preimplantation embryos from XO mice
Authors: Banzai M. , Omoe K. , Ishikawa H. , Endo A.
Published: May 2008

We examined the viability and developmental status of XO embryos at preimplantation stage (day 3 of gestation) by assessing blastocyst formation and counting cell number using our XO mouse colony. We also examined the incidence of chromosome anomalies. Embryos from XO mice (XY, XX and XO) developed more slowly (in cell numbers and blastocoele formation) than those from XX mice (XY and XX). XO embryos also tended to develop more slowly than XX embryos in the XO group. Although litter size at the preimplantation stage of gestation was almost twice as large (12.7) as those at mid-gestation (7.6) and near-term (7.2) in this colony, the adjusted XY:XX:XO ratio (2.8:2.0:1.0) did not differ greatly. This indicates that almost half of the embryos must have been eliminated during the first half of gestation in the XO group, probably regardless of sex chromosome complements. Thus, we consider that maternal XO sex chromosome constitution is disadvantageous for the intrauterine development of the embryo during the early period of gestation. This may be related to precocious aging of XO mice. Further, we confirmed that a high incidence of abnormal karyotypes occurs in embryos from our XO mouse colony.
Localization of human CREBBP (CREB Binding Protein) to 16p13.3 by fluorescence in situ hybridization
Authors: Chen X.-N. , Korenberg J.R.
Published: May 2008

Human and mouse cDNAs for a 265-kDa protein which binds specifically to phosphorylated cAMP-response element binding protein (CREB), have recently been isolated. A cDNA probe for the mouse CREB binding protein was used to localize this gene (CREBBP) to human chromosome 16p13.3 by fluorescence in situ hybridization (FISH).
Isolation and localization of transcribed sequences on human chromosome 22
Authors: Gimbel W. , Klein V. , Brass N. , Fischer U. , Piontek K. , Overmyer K. , Göttert E. , Zang K.D. , Meese E.
Published: May 2008

Recently, we reported the generation of a hetero-nuclear (hn) cDNA library from a human × rodent somatic cell hybrid retaining human chromosome 22. Here, we report the characterization and localization of 12 cDNA derived clones from this library. Human-specific cDNA sequences have been selectively amplified by inter-Alu PCR. To exclude Alu transcripts, only clones with inserts larger than 500 bp were analyzed. Ten of the 12 clones were localized by PCR on chromosome 22, with four clones mapping on additional chromosomes. One PCR-localized clone and two additional clones were mapped on chromosome 22 by in situ hybridization. Transcripts in human cells were identified for seven of the eight clones analyzed by RT-PCR. None of the clones showed significant sequence similarities within the GenBank and EMBL databases, indicating that these clones represent previously unknown genes. This is the first report on the isolation of chromosome 22-specific transcripts from a human × rodent somatic cell hybrid.