bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of equine chromosomes in horse × mouse somatic cell hybrids
Authors: Lear T.L. , Trembicki K.A. , Ennis R.B.
Published: May 2008

Giemsa-11 (G-11) staining and in situ hybridization were used to identify the equine chromosome complement of horse × mouse somatic cell hybrids. The presence of horse chromosomes in somatic cell hybrids was determined by differential G-11 staining. The slides were then destained and hybridized with biotinylated total horse (Equus caballus) genomic DNA without suppression. Fluorescence detection permitted rapid confirmation of horse chromosomal DNA in the hybrid cells.
A reciprocal whole-arm translocation, rcp(1;6)(1p6p;1q6q) in a boar, localization of the breakpoints, and reassignment of the genes for glucose phosphate isomerase (GPI) and calcium release channel (CRC)
Authors: Yang H. , Jung H.-R. , Solinas-Toldo S. , Lang E. , Bolt R. , Fries R. , Stranzinger G.
Published: May 2008

A reciprocal whole-arm translocation between chromosomes 1 and 6 in a Swiss Large White boar with reduced fertility was identified by the use of different staining techniques in mitotic metaphase cells, synaptonemal complex analyses, and meiotic chromosome preparations. The karyotype of this boar was demonstrated to be 38, XY, rcp(l;6)(lp6p;lq6q). To further localize the breakpoints more precisely and determine the precise gene locations, several in situ hybridization experiments were performed with a chromosome 1 centromere-specific probe and two other gene probes. The breakage and reunion points of both chromosomes were located in the centromeric regions. The genes for glucose phosphate isomerase and calcium release channel were mapped to 6cen→q12.
Absence of satellite III DNA in the centromere and the proximal long-arm region of human chromosome 14: analysis of a 14p-variant
Authors: Earle E. , Voullaire L.E. , Hills L. , Slater H. , Choo K.H.A.
Published: May 2008

Cytogenetic methods and molecular probes derived from the centromere and short arm of chromosome 14 were used to investigate the structural properties of a chromosome 14 variant. Results of GTL, CBG, Ag-NOR, and non-banded Giemsa staining of the chromosomes suggested the complete absence of the short arm and possibly a large part of the centromere. Negative in situ hybridisation with an α satellite III probe confirmed the absence of the arm; the detection of normal amounts of α satellite DNA, however, indicated retention of the centromeric domain. The natural occurrence of a human acrocentric variant lacking a short arm was thus established. Within the detection limits of the methods used, the results demonstrate that satellite III DNA is not essential for normal centromeric activity and allow us to exclude the presence of this satellite DNA within the centromere and proximal long-arm region of human chromosome 14.
A satellite III sequence shared by human chromosomes 13,14, and 21 that is contiguous with α satellite DNA
Authors: Vissel B. , Nagy A. , Choo K.H.A.
Published: May 2008

We report the isolation of a clone (pTR9) from a human chromosome 21 λ phage library, which was found to contain two distinct components: (1) a previously unreported subfamily of human satellite III (pTR9-s3; 1,485 bp) and (2) an α satellite sequence (pTR9-alpha; 250 bp) containing 1.5 copies of a 171-bp alphoid unit that shows 88.4% homology to a previously reported α satellite consensus sequence. The two components are separated by two direct repeats of 9 bp. Use of the polymerase chain reaction (PCR) to amplify across the junction between pTR9-s3 and pTR9-alpha established that these two sequences are contiguous in total human genomic DNA and in DNA derived from somatic cell hybrids carrying human chromosomes 13, 14, or 21. A related, but considerably more diverged, sequence was also detected on chromosome 15. Southern analysis of somatic cell hybrids at high stringency revealed a common structure of the pTR9-s3 sequence on chromosomes 13, 14, and 21 but not on 15 or 22. This sequence should be useful for the study of the structural organisation of the centromere of these chromosomes and the mechanism of their involvement in Robertsonian translocations.
Molecular characterization of a mouse Y chromosomal repetitive sequence that detects transcripts in the testis
Authors: Prado V.F. , Lee C.-H. , Zahed L. , Vekemans M. , Nishioka Y.
Published: May 2008

145SC5 is a Y chromosomal repetitive sequence isolated from a BALB/c mouse and is unique in that it detects poly(A)-containing transcripts in the testis. We determined nucleotide sequences of 145SC5 and a related cDNA clone designated PC11 and compared their sequences to that of pYMT2/B, another related cDNA clone. 145SC5 and PC11 are almost identical (97%), while PC11 and pYMT2/B share 84% identity. In situ hybridization and Southern blot analysis with XXSxr male mice demonstrated that 145SC5-related sequences were distributed over the entire length of the Y chromosome including the short arm. Two types of Y chromosome are present in inbred mouse strains: the Mus musculus musculus type and M.m. domesticus type. Among 26 inbred strains surveyed, 145SC5 detected polymorphims only in the M.m. domesticus Y chromosome.
Somatic cell hybrid mapping of human chromosome band 5q31: a region important to hematopoiesis
Authors: Neuman W.L. , Le Beau M.M. , Farber R.A. , Lindgren V. , Westbrook C.A.
Published: May 2008

As a means of characterizing the distal long arm of chromosome 5, in particular, the region spanning 5q23→q31, we analyzed somatic cell hybrids prepared from cells with overlapping chromosomal rearrangements. In one hybrid, the derivative chromosome 5 from a patient with acute myeloid leukemia (AML) de novo, whose bone marrow cells had a balanced translocation, t(5;7)(q31;q22), involving chromosome band 5q31, was isolated in a somatic cell hybrid (B294). In addition, we prepared somatic cell hybrids from a lymphoblastoid cell line (CC) derived from a patient who has a constitutional interstitial deletion of chromosome 5 spanning 5q23.1→q31.1. By a combination of Southern hybridization analysis and fluorescent in situ hybridization, we constructed a map dividing 5q23→q31 into four regions. We can assign genes to these regions and relate them to anonymous RFLP markers that have been genetically mapped.
A chromosome 1-specific DNA library from the domestic pig (Sus scrofa domestica)
Authors: Miller J.R. , Dixon S.C. , Miller N.G.A. , Tucker E.M. , Hindkjær J. , Thomsen P.D.
Published: May 2008

Chromosomes were prepared from lymphocytes of a male domestic pig and flow-sorted on a dual-laser FACS. Twenty spots were observed, corresponding to the known pig karyotype of 18 pairs of autosomes plus the X and Y. DNA was isolated from 10,000 copies of the presumed chromosome 1 spot, restricted with Sau3A, ligated into the vector pGEM4z, and PCR amplified using universal primers; the products were then religated into pUC18. After transformation into Escherichia coli, 210,000 independent colonies were obtained, 5% of which contained only vector DNA. The average insert size of the library was 405 bp. Southern blotting revealed that 36% of the clones contained single-copy DNA and that the remainder contained moderately or highly repetitive DNA. Screening with a (CA)n probe revealed that roughly 1 % of the clones contained microsatellite sequences. A bulk insert of the library was biotinylated by PCR and used as a probe for chromosomal in situ suppression hybridization to pig chromosomes, which confirmed that the library is specific for chromosome 1. However, sequences from the centromeric and telomeric regions seem to be underrepresented in the library.
Assignment of a porcine male-specific DNA repeat to Y-chromosomal heterochromatin
Authors: Thomsen P.D. , Hindkjær J. , Christensen K.
Published: May 2008

Primers were designed to amplify by PCR a 509-bp genomic fragment from male pig DNA, using the porcine male-specific repeat sequence described by McGraw et al. (1988). This PCR product showed male-specific hybridization in Southern blots. Nonradioactive in situ hybridization localized it to the entire length of the heterochromatic portion of Yq. The assignment was confirmed using the PCR primer pDYZ1-S for primed in situ labeling.
Localization of the human GM-CSF receptor β chain gene (CSF2RB) to chromosome 22q12.2→q13.1
Authors: Shen Y. , Baker E. , Callen D.F. , Sutherland G.R. , Willson T.A. , Rakar S. , Gough N.M.
Published: May 2008

The gene for the β-chain of the human GM-CSF receptor (CSF2RB) has been mapped to chromosome 22 by PCR analysis of a series of human × rodent somatic cell hybrids. In situ hybridization to normal human chromosomes and two translocations involving chromosome 22 and the chromosome expessing the rare fragile site FRA22A place the gene in the region 22q12.2→q13.1, proximal to the fragile site.
Regional localization of the gene for clusterin (SP-40,40; gene symbol CLI) to human chromosome 8p12→p21
Authors: Dietzsch E. , Murphy B.F. , Kirszbaum L. , Walker I.D. , Garson O.M.
Published: May 2008

The human clusterin (SP-40,40) gene, designated CLI (complement lysis inhibitor) by the Human Gene Nomenclature Committee, has previously been assigned to chromosome 8. In situ hybridization allowed us to map the locus at 8p12→p21.
Chromosomal localization of the mouse prealbumin gene (Ttr) by in situ hybridization
Authors: Qiu H. , Shimada K. , Cheng Z.
Published: May 2008

Prealbumin is a serum protein which plays an important role in plasma transport of retinol and thyroxine. The accumulation of a variant prealbumin is associated with a hereditary disorder, familial amyloidotic polyneuropathy (FAP). In situ hybridization with a mouse prealbumin gene cDNA probe was carried out in mouse fibroblasts. Analysis of 114 R-banded metaphases showed that 13 % of the total grains were located on chromosome 4 and 46% of the grains on this chromosome were in the region C6–D1. Linkage and syntenic group analysis showed that the prealbumin gene {Ttr) is located between two syntenic groups on mouse chromosome 4, which corresponded to two syntenic groups present on human chromosomes 1 and 9.
Synaptonemal complex analysis of a three-breakpoint translocation in a subfertile bull
Authors: Kovács A. , Villagómez D.A.F. , Gustavsson I. , Lindblad K. , Foote R.H. , Howard T.H.
Published: May 2008

Somatic chromosome analysis of a subfertile Brown Swiss bull demonstrated a three-breakpoint translocation involving chromosomes 1,8, and 9 in G- and R-banded karyotypes. Based on standard bovine chromosome nomenclature, the translocation was defined as t(l;8;9)(q43;ql3;q26). Synaptonemal complex analysis of the chromosome aberration by electron microscopy revealed a hexavalent configuration in 52 of 53 pachytene cells. Twenty-seven cells (51 %) had a completely paired hexavalent configuration showing distinctly non-homologous pairings between normal and/or translocated chromosomes involved in the exchanges. Thirteen cells showed a hexavalent configuration with centrally unpaired chromosome segments but with completely paired terminal arms. In 13 cells (including one at zygotene) the translocation chromosomes formed an open hexavalent, and in one cell there were two completely paired trivalents. Thirty-two cells at diakinesis-MI demonstrated 28 configurations, including one large hexavalent. Testicular histology, testis size, and seminal characteristics were normal.
Molecular and cytogenetic characterization of radiation hybrids specific for human chromosome 16
Authors: Ceccherini I. , Pezzolo A. , Persici P. , Romeo G.
Published: May 2008

Two hundred and twenty-three radiation hybrids retaining random fragments of human chromosome 16 were isolated during two successive experiments in HAT medium and screened with a total of 38 DNA probes, corresponding to anonymous DNA or gene sequences localized on chromosome 16. The presence of single or multiple human chromosomal fragments in a small subset of these hybrids was determined using in situ hybridization with total human DNA. The results confirm that individual radiation hybrids are often heterogeneous with respect to the retention and distribution of human fragments, as already suggested by their characterization with DNA probes. A number of these 223 radiation hybrids, whose detailed characterization has not been previously reported, represent a resource for the rapid isolation of new DNA markers or coding sequences from specific regions of chromosome 16 where human disease genes are already known to map.
Chromosomal location of the human transketolase gene
Authors: Lapsys N.M. , Layfield R. , Baker E. , Callen D.F. , Sutherland G.R. , Abedinia M. , Nixon P.F. , Mattick J.S.
Published: May 2008

The gene encoding the human transketolase enzyme (TKT) was localized by fluorescence in situ hybridization to normal and FRA3B human chromosomes. Southern blot analysis of a series of human × mouse and human × hamster hybrid cell lines confirmed this localisation. TKT maps to 3p 14 and distal to FRA3B, localizing TKT to 3p14.3.
Fertility of male and female mice heterozygous for the reciprocal translocation T(7;17)3BKM
Authors: Koleva M. , Benova D.
Published: May 2008

The present paper describes the fertility of male and female mice heterozygous for the reciprocal translocation T(7;17)3BKM. This translocation was induced by γ rays in the spermatozoa of an irradiated parent. It is characterized by “asymmetrical” localization of the breakpoints, distally in Chromosome 7 (7F5) and proximally in Chromosome 17 (17B1). The data presented here relate only those matings in which, for both partners, heterozygosity or normality could be confirmed cytogenetically. The results indicate that both male and female translocation heterozygotes are fertile, their mean litter size being reduced to about 50% of that of normal littermates. This leads to the conclusion that the multivalents mainly undergo either alternate or adjacent-12:2 segregation. No viable tertiary trisomics were observed among the progeny of the translocation carriers. Analysis of the frequency of the different types of multivalents in diakinesis-metaphase I spermatocytes showed a significant predominance of chain-type figures (CIV andCIII + 1), with chains of four elements (CIV) being more frequent than other configurations. This demonstrates that the small marker chromosome remains attached by one of its segments to the tetravalent.
Detection of human chromosomes in somatic cell hybrids by PCR analysis
Authors: Tripputi P. , Bacciocchi G. , Accolla R.S. , Mantero G. , De Bellis G. , Manoni M. , Cassani G. , Corneo G.
Published: May 2008

The detection of human chromosomes in somatic cell hybrids is usually made by chromosomal analysis, Southern blot analysis with human probes, and starch-gel electrophoresis of isoenzymes. We describe here a new, quick, and very efficient method to detect human chromosomes in somatic cell hybrids between human and rodent (rat and mouse) cells. The method is based on the polymerase chain reaction to promote amplification of human DNA, using primers derived from localized genes or DNA fragments from each human chromosome.
A novel, convenient, and inexpensive approach for deriving ISCN (1985) relative lengths: validation by a morphometric study of 100 karyotyped metaphase cells
Authors: Mark H.F.L. , Parmenter M. , Campbell W. , Mark, Jr. R. , Zolnierz K. , Dunwoodie D. , Hann E. , Airall E. , Santoro K. , Mark Y.
Published: May 2008

The present study stemmed from a need for a rapid means of deriving reproducible chromosome measurements. An internal set of standards can serve as the basis for routine, easy, and reliable morphometric comparisons. In this study, a total of 100 karyotyped metaphases were analyzed using the Nestler Run-Mate, a computerized curvilinear measuring tool. The null hypothesis tested was that there are no significant differences between chromosomal relative-length values obtained via this previously untested approach and those cited in ISCN (1985). The results indicate that this new method is not only feasible and adequate but has advantages over the conventional approach, which requires the use of a projector and screen to measure chromosomes in unkaryotyped metaphase spreads; further, it is less expensive and easier than using computerized digitizing tablets, a conclusion supported by time-and-effort measurements. Immediately obvious applications include routine use in clinical cytogenetics laboratories, as well as for fractional length estimations in fluorescent in situ hybridization studies performed in research laboratories that do not have access to expensive automated instrumentation.
A chromosomal basis for the differential organization of a porcine centromere-specific repeat
Authors: Miller J.R. , Hindkjær J. , Thomsen P.D.
Published: May 2008

Digestion of porcine DNA with the restriction enzymes SnoI and BamHl and subsequent gel electrophoresis revealed the presence of a repeat fragment of approximately 340 bp in length. When this fragment was cloned and used to probe a Southern blot containing pig DNA that had been digested with various enzymes, a ladder pattern of bands based on a unit of 340 bp was observed. Three individual BamHl repeat units were sequenced; each monomer unit was approximately 90% identical in sequence to the other two monomers. Double digestion did not alter the ladder pattern, indicating a differential distribution of restriction enzyme sites within the repeat family. We demonstrate by Southern blotting of DNAs from a panel of pig × rodent hybrid cell lines that the differential restriction site distribution has a chromosomal basis. We show that this repeat family hybridizes to the centromeres of all pig chromosomes other than the Y chromosome. However, when stringency was raised, hybridization persisted only to certain metacentric chromosomes.
Reassessment of breakpoints in chromosome 11p15
Authors: Henry I. , van Heyningen V. , Puech A. , Scrable H. , Augereau P. , Boehm T. , Rabbitts T. , Mannens M. , Rochefort H. , Jones C. , Cavenee W. , Junien C.
Published: May 2008

Specific tumor-associated rearrangements involving the regions 11p13 and 11p15 have been extensively documented. However, cytogenetic definition of the breakpoints occurring at the boundaries of these two regions was not precise enough to correlate with the molecular data. Using probes corresponding to the genes coding for MYOD1, CTSD, LDHA, and RBTN1 and to the anonymous sequence D11S776, we have reassessed the breakpoints of three hybrids (J1.10, BID7, and NYX3.1) and confirmed the localization or more precisely mapped these four genes and the anonymous DNA marker on different subregions of 11pter→p13, including the smallest region of 1 lpl 5.5 duplicated in a patient with Beckwith-Wiedemann syndrome.
Linkage between two blood-group markers in rhesus monkeys (Macaca mulatto)
Authors: Hackleman S.M. , Kammerer C.M. , Manis S. , Scheffler J. , Dyke B. , Stone W.H.
Published: May 2008

Using marker data on an extensive pedigreed population from the Wisconsin Regional Primate Research Center, we report the first genetic linkage in rhesus monkeys (Macaca mulatta). Five blood-group markers (G, I, J, K, and Q) and one serum protein marker (transferrin) were analyzed. Linkage analyses indicate the existence of loose linkage between G and Q (maximum lod score, Zmax = 4.84 at Θm = 0.314 ± 0.38, Θf = 0.266 ± 0.054). The genetic linkage described here constitutes the initial step toward the description of a genetic map in this species.
Fluorescence in situ hybridization mapping of the cystic fibrosis transmembrane conductance regulator (CFTR) gene to 7q31.3
Authors: Heng H.H.Q. , Shi X.-M. , Tsui L-C.
Published: May 2008

We have used the fluorescence in situ hybridization (FISH) technique to refine the localization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene on human chromosome 7. The result shows that the gene is most likely located within band q31.3.
Localization of the horse (Equus caballus) α-globin gene complex to chromosome 13 by luorescence in situ hybridization
Authors: Oakenfull E.A. , Buckle V.J. , Clegg J.B.
Published: May 2008

The α-globin gene complex in Equus caballus has been mapped by fluorescence in situ hybridization to the telomeric region of the long arm of chromosome 13. This is the first equine gene to be mapped to this chromosome.
A PCR-based method to amplify DNA with random primers: determining the chromosomal content of porcine flow-karyotype peaks by chromosome painting
Authors: Milan D. , Yerle M. , Schmitz A. , Chaput B. , Vaiman M. , Frelat G. , Gellin J.
Published: May 2008

We present here a new PCR-based technique that allows the production of several micrograms of DNA from only 300 flow-sorted chromosomes. During the first two PCR cycles, the annealing temperature is decreased to 30 °C, and numerous random loci are amplified under nonspecific conditions. As demonstrated here for pig chromosomes 1 and 18, the PCR products may be used to identify the chromosomal content of the flow-karyotype peaks of any species by fluorescence in situ hybridization.
Localization of ESD and A2M genes to sheep chromosome 3 by in situ hybridization
Authors: Graphodatsky A.S. , Biltueva L.S. , Filippov V.A. , Eremina V.R. , Lushnikova T.P. , Shumny T.V. , Ermolaev V.I.
Published: May 2008

The genes encoding esterase D (ESD) and α2-macroglobulin (A2M) were mapped using 3H-labeled cDNAs to sheep chromosome 3p26→p24 and 3q26→q35 respectively.
Isolation of a somatic cell hybrid retaining the der(16)t(12;16)(q13;p11.2) from a myxoid liposarcoma cell line
Authors: Schoenmakers H.F.P.M. , Kools P.F.J. , Kazmierczak B. , Bullerdiek J. , Claussen U. , Horsthemke B. , Van den Berghe H. , Van de Ven W.J.M.
Published: May 2008

We developed cell line LIS-3/SV40 from a primary myxoid liposarcoma with the t(12;16)(q13;p11.2) and trisomy 8. Following fusion of LIS-3/SV40 to mouse A9 cells, we obtained hybrid LIS-3/SV40/A9-B4 which contained the der(16) but neither the der(12) nor some of the normal human chromosomes, including 12 and 16. Furthermore, microclone library ML12q1315 was constructed from microdissected fragments of chromosome bands 12q13–15 and its microclones were found to span the breakpoint in LIS-3/SV40.
The fibroblast growth factor receptor 3 gene (FGFR3) is assigned to human chromosome 4
Authors: Keegan K. , Rooke L. , Hayman M. , Spurr N.K.
Published: May 2008

Fibroblast growth factor receptors (FGFRs) have recently been isolated and shown to be transmembrane tyrosine kinase receptors. The FGFR1 gene has previously been assigned to human chromosome 8 and the FGFR4 gene to human chromosome 5. Here we demonstrate, by using somatic cell hybrids, that the FGFR3 gene localizes to human chromosome 4, showing that it, too, resides on a chromosome distinct from those on which other FGFRs have been localized.
The γ fibrinogen gene (FGG) maps to chromosome 17 in both cattle and sheep
Authors: Johnson S.E. , Barendse W. , Hetzel D.J.S.
Published: May 2008

The γ fibrinogen gene (FGG) was localised in both cattle and sheep using in situ hybridisation. The probe employed was a 1-kb bovine cDNA fragment. Based on observations of QFQ-banded chromosome preparations, this locus is on bovine chromosome 17q12→q13 and on the homologous sheep chromosome 17. This localisation is, to our knowledge, the first assignment to chromosome 17 in either the bovine or ovine genome. In addition to localising FGG to this chromosome, the assignment provisionally maps the previously unassigned syntenic group U23, containing (besides FGG) the genes for mitochondrial aldehyde dehydrogenase 2 (ALDH2), interleukin 2 (IL2), immunoglobulin λ (IGL), and β fibrinogen (FGB), to chromosome 17 in cattle and probably to the same chromosome in sheep.
Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22)
Authors: Martin R.H.
Published: May 2008

Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion (p23q22) of chromosome 8. The pronuclear chromosomes were analyzed after in vitro penetration of golden hamster eggs. A total of 166 sperm were examined; 88.6% were chromosomally balanced and 11.4% were recombinant. Of the balanced complements, the proportion with a normal chromosome 8 (53.6%) was approximately equal to the proportion with an inverted 8 (46.4%). Of the recombinant complements, the proportion of sperm with a duplication of 8q and a deletion of 8p (5.7%) was equal to the reciprocal event of a duplication of 8p and a deletion of 8q (5.7%). The frequencies of X-bearing (53.2%) and Y-bearing sperm (46.8%) were not significantly different from the expected 1:1 ratio. There was no evidence for an interchromosomal effect. A total of four pericentric inversions have been studied by human sperm chromosome analysis; recombinant chromosomes have been observed in two of the four cases.
Chromosomal localization of omega and trophoblast interferon genes in cattle and river buffalo by sequential R-banding and fluorescent in situ hybridization
Authors: Iannuzzi L. , Gallagher D.S. , Ryan A.M. , Di Meo G.P. , Womack J.E.
Published: May 2008

Fluorescent in situ hybridization (FISH) of the cattle cDNA probe bTP-509 to RBA-banded cattle (Bos taurus L.) chromosomes confirmed the assignment of the omega (IFNW) and trophoblast (IFNT) interferon genes to chromosome 8q15. Using the same probe, these genes were also localized to river buffalo (Bubalus bubalis L.) chromosome 3q15 following sequential RBA-banding and FISH. The extensive G- and R-banding homology observed between cattle chromosome 8 and river buffalo chromosome arm 3q supports the conserved chromosomal location of the IFNW and IFNT genes in these two species.
Chromosome banding in Amphibia
Authors: Schmid M. , Ohta S. , Steinlein C. , Guttenbach M.
Published: May 2008

The karyotype of the common bell-ring frog, Buergeria buergeri, is characterized by primitive ZW/ZZ (female/male) sex chromosomes. The only difference between the Z and W is the presence of a nucleolus organizer region (NOR) and its associated constitutive heterochromatin in the Z. This causes a sex-specific difference in the number of ribosomal RNA genes, with a male:female ratio of about 2:1. In the cell nuclei of the various tissues analyzed the NORs on both Z chromosomes are transcriptionally active. During meiosis in females, the ZW chromosomes form a characteristic lampbrush sex bivalent with a conspicuous absence of chiasmata along half of their long arms. No further morphological differences are present in these primitive sex chromosomes. The results indicate that there is no Z-chromosome inactivation mechanism operating in this amphibian. Experimental sex reversal of genetic (ZW) females to functional males was achieved by estrogen treatment of tadpoles. Mating of sex-reversed females with normal females yields the expected 25 % lethal nucleoliless WW embryos, which die at the tail-bud stage. The sex of the remaining viable embryos with one or two nucleoli determined after metamorphosis was in a female:male ratio of 1.57:1. These genetic experiments confirm that a primitive ZW/ZZ (female/male) type of chromosomal sex determination operates in this species.
Somatic cell mapping of omega and trophoblast interferon genes to bovine syntenic group U18 and in situ localization to chromosome 8
Authors: Ryan A.M. , Gallagher D.S. , Womack J.E.
Published: May 2008

Bovine omega (IFNW) and trophoblast (IFNT) interferon genes were assigned to bovine syntenic group U18 by somatic cell genetics. Fluorescent in situ hybridization subsequently localized these genes to bovine chromosome 8 band 15. This assignment conflicts with a previous assignment of U17 genes to the same chromosome.
Confirmation of 15q26.1 as the site of the FES protooncogene by fluorescence in situ hybridization
Authors: Mathew S. , Murty V.V.V.S. , German J. , Chaganti R.S.K.
Published: May 2008

The FES oncogene was previously localized to human chromosome 15 by analysis of mouse × human somatic cell hybrids and to 15q26 by in situ hybridization of a radioacively labeled probe. In the present study, using fluorescence in situ hybridization, we have determined the precise map position of FES at 15q26.1.
Assignment of human B2-1 gene (D17S811E) to chromosome 17qter by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization
Authors: Dixon B. , Mansour M. , Pohajdak B.
Published: May 2008

The human gene B2-1 has significant homology to the yeast gene SEC7. By PCR analysis of a human × rodent hybrid panel, the B2-1 gene was assigned to chromosome 17. Fluorescence in situ hybridization localized the gene to 17qter.
Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22
Authors: Mattei M.G. , Etienne J. , Chuat J.C. , Nguyen V.C. , Brault D. , Bernheim A. , Galibert F.
Published: May 2008

The lipoprotein lipase gene (LPL) was mapped to chromosome band 8p22 by in situ hybridization to human chromosomes. This confirms the status of this assignment, which was still provisional.
Growth and development of 39, X mouse embryos at mid-gestation
Authors: Omoe K. , Endo A.
Published: May 2008

We examined the growth and development of XO embryos at mid-gestation (day 10) by assessing crown-rump length, head length, somite number, and morphological score (Van Maele-Fabry et al., 1990), using an XO mouse colony established from the Jcl/ICR strain. Contrary to expectation, there were no differences between the XO and XX embryos in any parameter measured. Also, no particular region was specifically retarded in XO embryos during development. We therefore concluded that the growth and development of XO embryos were not retarded when compared with their XX litter-mates at day 10 of gestation.
Chromosomal localization of the human ciliary neurotrophic factor gene (CNTF) to 11q12 by fluorescence in situ hybridization
Authors: Giovannini M. , Romo A.J. , Evans G.A.
Published: May 2008

The human gene for ciliary neurotrophic factor (CNTF) was previously assigned to chromosome 11 by analysis of a panel of somatic cell hybrids. We isolated cosmid clones containing the CNTF gene from an arrayed-chromosome specifïc library and used fluorescent in situ hybridization to regionally localize the human CNTF gene on chromosome 11. The gene maps at an FLpter of 0.46, corresponding to a cytogenetic band position of 11q12.2.
T(In1;5)44H, a complex mouse chromosomal rearrangement with a phenotypic effect
Authors: Evans E.P. , Beechey C.V. , Burtenshaw M.D. , Searle A.G.
Published: May 2008

A complex murine chromosomal rearrangement, T(Inl;5)44H, was recovered after 5 Gy + 5 Gy (given 24 h apart) spermatogonial X-irradiation. T44H is a paracentric inversion of most of Chromosome (Chr) 1 (1A1–1H6), followed by splitting of the inverted segment through a reciprocal translocation with Chr 5, the latter breakpoints being in 1C2 and 5F. Linkage tests have shown that the probable order on Chr 1 is fz-ln-T44H with 2.4 ± 2.4 crossover units between In and T44H. On Chr 5 the probable order is W-T44H-go-bf with 7.1 ± 4.9 crossover units between T44H and go. All heterozygotes show a marked dilution of coat colour. Heterozygotes of both sexes are fertile, producing small litters with a marked shortage of T44H carriers. The number of live embryos produced from female carriers is significantly lower than from males. Despite the complex nature of the rearrangement, complete chromosome pairing and chiasma formation occur regularly at meiosis. Depending on the strands involved, this leads to the production of either one or two dicentric chromatids per spermatocyte, and their disjunctional fate can be followed into metaphase II. Analysis of chromatid classes at this stage suggests reasons for both the high embryonic mortality and the shortage of liveborn T44H carriers.
The human gene for the zona pellucida glycoprotein ZP3 and a second polymorphic locus are located on chromosome 7
Authors: van Duin M. , Polman J.E.M. , Suikerbuijk R.F. , Geurts van Kessel A.H.M. , Olijve W.
Published: May 2008

Southern blot analysis of genomic DNA and gene-cloning experiments have recently shown that the human ZP3 gene is not a single-copy gene. The human genome harbors sequences encoding a protein of 424 amino acids and, in addition, a polymorphic locus with the potential to give rise to a probably nonfunctional polypeptide of 372 residues. In this report it is shown, by screening of a panel of human × hamster hybrid cell lines, that both the ZP3 and ZP3P loci are located on human chromosome 7.
Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37
Authors: Van Es H.H.G. , Bout A. , Liu J. , Anderson L. , Duncan A.M.V. , Bosma P. , Oude Elferink R. , Jansen P.L.M. , Roy Chowdhury J. , Schurr E.
Published: May 2008

UDP glucuronosyltransferases (UGTs) comprise a multigene family of drug-metabolizing enzymes. The subfamily of UGTs that conjugate bilirubin and phenolic compounds with glucuronic acid has been termed UGT1A1. In man, UGTIAI isoforms are encoded by a single gene, UGT1A1. Protein isoforms encoded by UGT1A1 originate by alternative splicing. In the present study, we used the cDNA of UGT1A1*4, a bilirubin-conjugating isoform, to localize the UGT1A1 locus in the human genome. The UGT1A1 gene was assigned by in situ hybridization to chromosome region 2q37.
Strand-specific FISH reveals orientation of chromosome 18 alphoid DNA
Authors: Goodwin E. , Meyne J.
Published: May 2008

A method is described for making in situ hybridization strand specific. Through the use of a synthetic DNA probe of a repetitive sequence in the centromeric region of chromosome 18, it is shown that the repeats exist in a head-to-tail tandem array. The method should be useful for studies of the molecular organization and mapping of chromosomes.
Ribosomal RNA genes are interspersed throughout a heterochromatic chromosome arm in Atlantic salmon
Authors: Pendás A.M. , Morán P. , Garcia-Vázquez E.
Published: May 2008

The ribosomal RNA genes (rDNA) have been mapped by fluorescent in situ hybridization (FISH) using four rDNA probes (rDNA/FISH) to Atlantic salmon chromosomes. Signals appeared over the whole heterochromatic chromosome arm displaying the secondary constriction and satellites. The size polymorphism of this short arm, revealed by C-banding, was confirmed by rDNA/FISH, supporting large interindividual differences in the number of rDNA copies. Conventional techniques for the detection of nucleolar organizer regions are discussed, and their results are compared with those of rDNA/FISH.
A method for testing the nonrandomness of chromosomal breakpoints
Authors: Tai J.J. , Hou C.-D. , Wang-Wuu S. , Wang C.-H. , Leu S.-Y. , Wuu K.-D.
Published: May 2008

Testing the nonrandomness of breakage at a chromosome band is an essential step for identifying a fragile site. In this paper, we propose a method derived by using the relationship between the binomial and F distributions for testing nonrandomness. The method is simple in calculation. It was applied to the detection of fragile sites for Chinese patients with colorectal carcinoma.
The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males
Authors: Johannisson R. , Schwinger E. , Wolff H.H. , vom Ende V. , Löhrs U.
Published: May 2008

Two infertile men heterozygous for a 13;14 Robertsonian (Rb) translocation were investigated by means of synaptonemal complex studies, testicular histology, and semen analysis. In both individuals interaction between the Rb trivalent and the XY pair was observed. Twenty percent of pachytene cells analyzed in one patient showed XY-trivalent association which correlated with malformed spermatids; the higher rate of XY-trivalent association (∼47%) in the second pro-band corresponded with complete spermatogenic arrest. The data presented indicate a positive correlation between increased frequency of XY trivalent association and the degree of germ-cell impairment.
5-Azadeoxycytidine distinguishes between active and inactive X chromosome condensation
Authors: Haaf T. , Werner P. , Schmid M.
Published: May 2008

Treatment with 5-azadeoxycytidine (5-aza-dC) causes dramatic inhibition of mitotic condensation in the inactive X chromosome, without affecting the active X chromosome and autosomes. The undercondensed chromatin structure is most prominent in the late-replicating regions of the inactive X chromosome, whereas specific earlier-replicating segments on the inactive X probably associated with large blocks of genes that escape inactivation remain normally condensed. This segmentation of inactive X chromosomes has been evolutionarily conserved and is unique to mammals. It suggests temporal or mechanistic separation in condensation of inactive X chromatin. Condensation of chromatin structure is a novel and general feature of inactive X chromosomes that may be involved, directly or indirectly, in the maintenance and stabilization of X inactivation.
A high-resolution banding pattern idiogram of Monodelphis domestica chromosomes (Marsupialia, Mammalia)
Authors: Pathak S. , Rønne M. , Brown N.M. , Furlong C.L. , VandeBerg J.L.
Published: May 2008

A high-resolution G-banding pattern idiogram, an R-banding pattern, and the precise identification of the NOR-bearing autosomal pair are presented for Monodelphis domestica.
Detailed characterization of a human 8q24.1 microdissection library and generation of ‘‘sequence-tagged sites”
Authors: La Pillo B. , Karpinski S. , Lüdecke H.-J. , Horsthemke B.
Published: May 2008

A total of 533 clones from a human 8q24.1 microdissection library was analyzed by automatic DNA sequencing. Three hundred and thirty-seven different insert sequences were found. The insert size ranged from 45 to 376 bp (mean, 170 bp). Eighty-six percent (291/337) of these sequences were free of repetitive DNA. Each of 19 clones tested was successfully translated into a sequence-tagged site. We conclude that the microdissection library is a rich source of DNA markers for 8q24.1.
Mapping of the human cardiac Na+/Ca2+ exchanger gene (NCX1) by fluorescent in situ hybridization to chromosome region 2p22→p23
Authors: McDaniel L.D. , Lederer W.J. , Kofuji P. , Schulze D.H. , Kieval R. , Schultz R.A.
Published: May 2008

The cDNA that encodes the human Na+/Ca2+ exchanger (NCXl) involved in regulation of intracellular calcium levels has been isolated from a cardiac cDNA library. Using fluorescent in situ hybridization, the human cDNA was mapped to chromosome region 2p23→p22 by co-hybridization with fluorescinated alu517-PCR amplified total human DNA to obtain an R-banding pattern.
Chromosome studies in Hypoptopomatinae (Pisces, Siluriformes, Loricariidae)
Authors: Andreata A.A. , Foresti do Almeida-Toledo L. , Oliveira C. , de Almeida Toledo Filho S.
Published: May 2008

Cytogenetic analysis of two local populations of Microlepidogaster leucofrenatus showed a basic diploid chromosome number (2N) of 54 in both populations. Some fishes were found to have a 2N = 55 or 56 chromosomes due to the presence of one or two large heterochromatic B chromosomes. Specimens of M. leucofrenatus from the Poço Grande stream had 24 metacentrics, 24 submetacentrics, four subtelocentrics, and one submetacentric homomorphic pair in males and one submetacentric/subtelocentric heteromorphic pair in females, whereas individuals of this species from the Marumbi River had 22 metacentrics, 24 submetacentrics, four subtelocentrics, two acrocentrics, and one submetacentric/subtelocentric heteromorphic pair in females. The occurrence of the heteromorphic pair in the females was due to the presence of an extra C-banded segment on the W chromosome. Ag-NORs in both populations were located interstitially on the short arm of the largest metacentric pair. The Poço Grande population had less constitutive heterochromatin than did the Marumbi River population. The speciation process in this fish species is discussed on the basis of heterochromatin distribution.
Meiotic abnormalities in hybrid mice of the C57BL/6J × Mus spretus cross suggest a cytogenetic basis for Haldane’s rule of hybrid sterility
Authors: Hale D.W. , Washburn L.L. , Eicher E.M.
Published: May 2008

Light- and electron-microscopic analyses of chromosomal pairing and recombination in F1 and first-backcross generation mice of the C57BL/6J × Mus spretus cross revealed a variety of meiotic irregularities that could contribute to meiocyte loss and infertility. Pachytene anomalies included univalency, partially paired bivalents, homolog-length inequalities, nonhomologous pairing, and associations of asynapsed autosomal segments with the X chromosome. These phenomena were most prevalent in Fi males, which are invariably sterile. Although F[ females were qualitatively fertile, breeding data indicated significant reproductive impairment. Molecular analyses of X-linked and pseudoautosomal loci in sterile and fertile backcross males revealed that the failure of X-Y pairing and recombination is correlated with heterozygosity within the pseudoautosomal regions of the X and Y chromosomes. In addition to impairing fertility, the synaptic disturbances (such as localized asynapsis and nonhomologous pairing) observed in F1 individuals can potentially alter recombinational patterns, thereby contributing to the genetic-map distortion observed with this interspecific cross. Together, the cytogenetic and reproductive data suggest that sex-related differences in the gametogenic process, quantitative differences in the incidence of synaptic irregularities in female and male meiosis, and phenomena associated with the X and Y chromosomes comprise the etiological basis of the sex-biased F1 sterility. The differential gender-related effects of these cytogenetic phenomena may constitute the underlying basis of Haldane’s rule in mammals.
Repeated primed in situ labeling: formation and labeling of specific DNA sequences in chromosomes and nuclei
Authors: Terkelsen C. , Koch J. , Kølvraa S. , Hindkjær J. , Pedersen S. , Bolund L.
Published: May 2008

A new version of our previously published PRINS (PRimed IN Situ labeling) method is presented. It represents a significant improvement in the detection of specific DNA sequences in situ. The idea is to perform the reaction repeatedly, rather than just once. This change of strategy results in a localized accumulation of sequence-specific labeled DNA, resulting in up to a 15-fold amplification of the signal as compared to the standard PRINS method. Interestingly, the retention of the labeled DNA is so good that it stays within the chromosomal band where it is synthesized, provided that the reaction is not performed an excessive number of times. The key trick is the performance of the procedure on small glass slides in PCR tubes, thereby avoiding the use of cover slips. In addition, use of the small glass slides seems to give less variance when the signals are quantified in a fluorescence microscope.
The gene coding for erythrocyte protein band 7.2b (EPB72) is located in band q34.1 of human chromosome 9
Authors: Westberg J.A. , Entler B. , Prohaska R. , Schröder J.P.
Published: May 2008

Human erythrocyte integral membrane protein band 7 (also termed protein 7.2b or stomatin) is involved in the Na+/K+ permeability of red cells. A cDNA clone coding for this protein was used as a probe to determine the chromosomal localization of the gene (EPB72). Southern blot analysis of somatic cell hybrid DNA panels localized the human EPB72 gene to chromosome band 9q34.1.
Isolation of 353 NotI-linking clones and 62 DIMA markers (DXS607-DXS668) from human chromosome Xq24→qter
Authors: Kaneko K. , Warren S.T. , Miyatake T. , Tsuji S.
Published: May 2008

Through restriction enzyme digestion of 1,784 cosmid DNAs derived from human chromosome region Xq24→qter, we identified 353 NotI-linking cosmids (11 individual groups of overlapping NotI-linking cosmids at Xq24→q25, 6groupsatXq26→q27, and 19 groups at Xq28). Sixty-two of the 353 clones (DXS607-DXS668) contained multiple rare-cutter sites, including multiple Sacll sites within a 2-kb region, as well as one to six sites for BssHll, MluI, NotI, or NruI.
Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH)
Authors: Martin R.H. , Ko E. , Chan K.
Published: May 2008

Fluorescence in situ hybridization (FISH) with repetitive-sequence DNA probes was performed on human interphase sperm to determine the utility of this technique for aneuploidy detection. DNA sequences specific for chromosomes 15 and 16 and the Y were biotinylated and hybridized with human sperm that had been treated with cetyltrimethyl-ammonium bromide and dithiothreitol to render them accessible to the probes. Fluoresceinated avidin and antiavidin were utilized to visualize bound probe. More than 10,000 sperm were analyzed for each chromosome probe. The hybridization efficiency was 98–99% for all three probes. The frequencies for disomy (i.e., for nuclei containing two fluorescent signals) for chromosomes 15 and 16 and the Y were 0.14%, 0.17%, and 0.11 %, respectively. These frequencies are all somewhat higher than those obtained by the human sperm karyotyping technique. Nevertheless, these preliminary results suggest that FISH is a simple and rapid technique that may provide an accurate screen for aneuploidy detection in human sperm.
The uptake of uridine in the nucleolus occurs in the dense fibrillar component
Authors: Schöfer C. , Müller M. , Leitner M.D. , Wachtler F.
Published: May 2008

A new method was developed to localize the site of transcription within the nucleolus. Incorporation of digoxigenin-labeled UTP in nucleoli of human PHA-stimulated lymphocytes and in equine melanoma cells was visualized with antibodies against digoxigenin and secondary gold-labeled antibodies at the electron-microscopic level. This approach offers much higher spatial resolution than the autoradiographic methods used so far. In both types of cells digoxigenin-UTP was incorporated mainly into the dense fibrillar component; the fibrillar centers, in contrast, did not display significant labeling above background levels. This finding corroborates the view that the dense fibrillar component is the site of RNA transcription in the nucleolus.
Identification and characterization of a cDNA, which is highly homologous to the ribonucleoprotein gene, from a locus (D1OS102) closely linked to MEN2 (multiple endocrine neoplasia type 2)
Authors: Takiguchi S. , Tokino T. , Imai T. , Tanigami A. , Koyama K. , Nakamura Y.
Published: May 2008

We previously reported a nearly 1 -Mb contig of cosmid and YAC clones at D10S102, a locus that is tightly linked to the gene responsible for multiple endocrine neoplasia type 2 (MEN2A). Subclones of 159 genomic EcoRlfragments in the contig were tested on “zoo blot” to detect DNA sequences conserved in various species. Nine fragments found to contain conserved sequences were used as probes for screening cDNA libraries. One of these probes, y300-pL50, recognized a cDNA from a human fetal brain library. The cDNA encoded a protein consisting of 270 amino acids, whose predicted sequence has a high degree of homology to heterogeneous nuclear ribonuclear protein. This expressed sequence may be a candidate for the gene responsible for MEN2A.
A microsatellite marker within the duplicated D16S79 locus has a null allele: significance for linkage mapping
Authors: Phillips H.A. , Thompson A.D. , Kozman H.M. , Sutherland G.R. , Mulley J.C.
Published: May 2008

The dinucleotide repeat 16AC66F3 was characterised from D16S79A within a duplicated section of 16p13.11 which is duplicated on all normal chromosome 16’s. This marker has a common null allele caused by polymorphism within one of the primer sites. A redesigned primer overcame this problem; however, this allowed amplification of two dinucleotide repeats, at D16S79A and D16S79B, with an overlapping and uninterpretable distribution of alleles. Thus, the 16AC66F3 marker with a null allele is potentially useful for linkage mapping, as it avoids the ambiguity associated with the genotyping of homologous AC repeats at this duplicated locus. The distribution of additional D16S79 RFLPs flanking FRA16A is clarified.