bluuebunny/crossref_metadata_2025 huggingface dataset:
Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35→p34.3 and its position relative to the 1p marker D1S57
Authors: Volpi E.V. , Romani M. , Siniscalco M.
Published: May 2008

The LCK gene encodes a lymphocyte-specific member of the Src family of protein tyrosine kinases. This gene was previously assigned to human chromosome region 1p35→p32 by isotopic in situ hybridization. We report here its more refined localization to bands 1p35→p34.3 by fluorescence in situ hybridization on R-banded metaphase chromosomes and its mapping relative to the reference marker pYNZ2 (D1S57).
Use of direct in situ single-copy (DISC) PCR to physically map five porcine microsatellites
Authors: Troyer D.L. , Goad D.W. , Xie H. , Rohrer G.A. , Alexander L.J. , Beattie C.W.
Published: May 2008

Direct in situ single-copy polymerase chain reaction (DISC-PCR) was used to assign and orient a linkage group to pig chromosome 1. Five microsatellites were analyzed, and all five were successfully localized using this procedure. Physical data were used to orient the linkage group with respect to the centromere and estimate the amount of coverage of chromosome 1. There was excellent concordance between the physical and linkage maps. The linear order of the microsatellites was identical, and relative distances were similar. All markers were located on the long arm of chromosome 1. Coverage was estimated at about 32%. Thus, DISC-PCR rapidly and easily assigned and ordered microsatellite markers for which large genomic clones do not exist.
High resolution G-banding of chromosomes in Microtus kirgisorum (Muridae, Rodentia)
Authors: Mazurok N.A. , Rubtsov N.B. , Nesterova T.B. , Zakian S.M.
Published: May 2008

The use of G-banding in conjunction with the pipette method of chromosome preparation has allowed 524 band resolution in chromosomes of Microtus kirgisorum. After detailed analysis of M. kirgisorum chromosomes at different stages of condensation, an ideogram has been prepared.
Age-associated micronuclei containing centromeres and the X chromosome in lymphocytes of women
Authors: Catalán J. , Autio K. , Wessman M. , Lindholm C. , Knuutila S. , Sorsa M. , Norppa H.
Published: May 2008

Chronological aging of women is clearly associated with an increase in both X-chromosome loss and micronuclei formation in peripheral lymphocytes. It has been suggested that micronucleus formation is an important mechanism of chromosome loss. In the present study, fluorescence in situ hybridization was used to study micronuclei content in two age groups (women below 30 and above 50 years old). A probe for centromeric alphoid consensus sequences (SO-αAllCen) and a cloned X-specific centromeric probe (pXBR) were separately used to detect the presence of any chromosomes and the X chromosome, respectively. The presence of centromere-positive micronuclei was significantly higher among the older donors (51.5%) than among the younger donors (34.3%). The X chromosome was highly overrepresented in the micronuclei, the older women showing a higher proportion of X-positive micronuclei (24.0%) than the younger women (14.0%). Assuming that the rest of the centromere-positive micronuclei contained autosomes, a significant age-dependent difference was also noted for micronuclei harboring autosomes (27.5 % among the older women and 20.3 % among the younger women). These findings suggest that both the X chromosome and autosomes are responsible for the age-dependent increase of micronuclei in women’s peripheral lymphocytes.
Comparative mapping of the imprinted U2afbpL gene on mouse chromosome 11 and uman chromosome 5
Authors: Kalcheva I. , Plass C. , Sait S. , Eddy R. , Shows T. , Watkins-Chow D. , Camper S. , Shibata H. , Ueda T. , Takagi N. , Hayashizaki Y. , Chapman V.
Published: May 2008

The genetic map location of the recently discovered imprinted gene U2afbpL has been verified and refined in several mouse crosses. RI strain analysis had previously shown that the gene is located on mouse chromosome 11. This assignment has been verified using interspecific backcrosses. Moreover, the location of the gene relative to a fixed order of markers in the proximal region of mouse chromosome 11 has been established. The location of the gene on mouse chromosome 11 corresponds to a homologous linkage group that is conserved on human chromosome 5q. The location of the human homologue has been determined using both somatic cell hybrid genetic analysis and fluorescence in situ hybridization. These analyses have mapped the human locus U2AFBPL to human chromosome 5q23→q31.
Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH
Authors: Saito F. , Sasaki S. , Chepelinsky A.B. , Fushimi K. , Marumo F. , Ikeuchi T.
Published: May 2008

The human AQP2 (collecting duct water channel, aquaporin 2) gene encodes a 271 amino acid protein and is a member of the MIP (major intrinsic protein of lens fiber) gene family. Using two-color fluorescence in situ hybridization on high-resolution R-banded chromosomes and human genomic DNA clones for AQP2 and MIP as probes, we found that both genes mapped closely within the human chromosome region 12q13.
Mapping of the breast basic conserved gene (D16S444E) to human chromosome band 16q24.3
Authors: Cleton-Jansen A.M. , Moerland H.W. , Callen D.F. , Doggett N.A. , Devilee P. , Cornelisse C.J.
Published: May 2008

The breast basic conserved gene (D16S444E) is a candidate tumor suppressor gene previously mapped to human chromosome 16. We determined the map position of D16S444E more precisely using a somatic mouse × human hybrid panel and fluorescence in situ hybridization on metaphase spreads and interphase nuclei. We show that the D16S444E gene is localized on band 16q24.3 and is located between APRT and D16S44.
The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2p22
Authors: Rytkönen E.M.K. , Halila R. , Laan M. , Saksela M. , Kallioniemi O-P. , Palotie A. , Raivio K.O.
Published: May 2008

Mutations in the xanthine dehydrogenase gene (XDH), which codes for the last enzyme of the purine catabolic pathway in man, cause the autosomal recessive disease xanthinuria. We obtained cDNA clones from a human breast cDNA library and confirmed one of the two different sequences proposed for human XDH. Using a somatic cell hybrid mapping panel and specific primers for human XDH, we assigned the gene to chromosome 2. By fluorescence in situ hybridization, the gene was localized to bands 2p22.3→p22.2. The FLpter probe location was 0.135 (SD = 0.016), as determined by digital image analysis.
Localization of the Tp53 gene on Syrian hamster chromosome 9 by fluorescence in situ hybridization
Authors: Popescu N.C. , Zimonjic D.B. , Albor A. , Notario V.
Published: May 2008

Mutations of the Tp53 tumor suppressor gene have been detected in 50% of all human cancers. The normal Tp53 gene product acts as a negative regulator of cell division or is associated with abnormal growth in certain differentiated cell types. The Tp53 gene was mapped by FISH to Syrian hamster chromosome 9 bands qb2.2→2.3 using a genomic DNA probe with a high degree of sequence identity to the human Tp53 gene.
The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome
Authors: Wicking C. , Breen M. , Negus K. , Berkman J. , Evdokiou A. , Cowled P. , Chenevix-Trench G. , Wainwright B.
Published: May 2008

The human growth-arrest specific gene GAS1 maps to chromosome bands 9q21.3→q22, the region known to contain the tumour suppressor gene responsible for nevoid basal cell carcinoma syndrome (NBCCS). Because of its putative action as a tumour suppressor gene, the GAS1 gene was analysed as a candidate for the NBCCS gene. Using two-colour fluorescence in situ hybridization, the GAS1 gene maps outside the interval which, by genetic analysis, has been shown to contain the NBCCS gene.
Isolation and mapping of a human gene (MCM2) encoding a product homologous to yeast proteins involved in DNA replication
Authors: Nakatsuru S. , Sudo K. , Nakamura Y.
Published: May 2008

From a human fetal-lung cDNA library, we isolated a gene, human MCM2, whose nucleotide sequence predicts a protein product homologous to the yeast nuclear proteins MCM2, MCM3, CDC21, and CDC46. Determination of cDNA sequences covering the entire coding region demonstrated an open reading frame of 1,629 nucleotides encoding 543 amino acids. Sequence comparison revealed 30–40% ami no acid identity with these four yeast proteins, all of which are considered to play important roles in DNA replication. Analysis by Northern blotting revealed that the human MCM2 gene is expressed ubiquitously in normal tissues. Furthermore, we localized this gene to chromosomal bands 7q21.3→q22.1 by fluorescence in situ hybridization.
The genes coding for rat cystatin-related prostate protein (Cstrp) map to chromosome 3q41
Authors: Devos A. , Zhang J. , Rivière M. , Vercaeren I. , Heyns W. , Cassiman J.J. , Rombauts W. , Marynen P. , Szpirer J. , Szpirer C. , Peeters B.
Published: May 2008

Two genes encoding rat cystatin-related prostate protein (Cstrp), previously called CRP (Devos et al., 1993), were mapped to chromosome 3q41 by fluorescent in situ hybridization. The results were confirmed using a panel of mouse-rat hybrids that segregate rat chromosomes. Analysis of genomic DNA indicates that the Cstrp locus comprises probably more than three very similar genes.
Combined Q-banding and fluorescence in situ hybridization for the identification of bovine chromosomes 1 to 7
Authors: Solinas-Toldo S. , Mezzelani A. , Hawkins G.A. , Bishop M.D. , Olsaker I. , Mackinlay A. , Ferretti L. , Fries R.
Published: May 2008

Eleven probes were assigned to bovine chromosomes 1 to 7 by fluorescence in situ hybridization (FISH). The identification of chromosomes was based on QFQ-banding prior to in situ hybridization and comparison with the Reading Conference (1976) and ISCNDA (1989) standards. The probes used for FISH can now be utilized as identification and discrimination features for bovine chromosomes 1 to 7 and particularly for chromosomes 4 and 6, which are difficult to distinguish. Comparison of our mapping data with previous assignments and of the standard chromosome banding patterns prompt us to propose a change in the ISCNDA nomenclature: ISCNDA chromosome 4 should be named chromosome 6 and vice versa. Chromosome 4 is marked by the ribosomal RNA cluster RNR3, and chromosome 6 is characterized by the casein gene cluster and an anonymous satellite (D6Z1).
Chromosomal localization of the human and rat genes (PDE4D and PDE4B) encoding the cAMP-specific phosphodiesterases 3 and 4
Authors: Szpirer C. , Szpirer J. , Rivière M. , Swinnen J. , Vicini E. , Conti M.
Published: May 2008

Through the use of somatic cell hybrids segregating either human or rat chromosomes, we determined the chromosome localizations of two genes encoding cAMP-specific phosphodiesterases (cAMP-PDEs). PDE4D, the gene encoding the cAMP-PDE isoform 3 (IVd), was assigned to human chromosome 5 and rat chromosome 2, and PDE4B, the gene encoding the cAMP-PDE isoform 4 (IVb), was assigned to human chromosome 1 and rat chromosome 5. These localizations extend the homology between rat chromosome 2 and human chromosome 5, on the one hand, and between rat chromosome 5 and human chromosome 1 on the other hand.
Assignment of the human skeletal muscle α-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization
Authors: Eyre H. , Akkari P.A. , Wilton S.D. , Callen D.C. , Baker E. , Laing N.G.
Published: May 2008

A sequence-tagged site (STS) was developed for the human skeletal muscle α-tropomyosin gene (TPM1) and used to isolate a genomic clone, λTPM1.1, containing part of the TPM1 gene. Fluorescence in situ hybridization of this clone to metaphase chromosome spreads localised TPM1 to chromosome band 15q22. This localisation in humans is consistent with that recently described for the mouse.
Cytogenetics and karyosystematics of Oryzomys albigularis (Rodentia, Cricetidae) from Venezuela
Authors: Aguilera M. , Pérez-Zapata A. , Martino A.
Published: May 2008

Several authors have proposed that Oryzomys albigularis constitutes a supraspecific complex and that chromosomal pericentromeric inversions have played a fundamental role in the diversifying process. With the purpose of clarifying the unclear taxonomic situation of the nominal forms of O. albigularis living in Venezuela, a cytogenetic study was carried out on individuals from five different localities along the Andean range and the Cordillera de la Costa. All of the individuals examined showed a diploid number (2n) of 66 chromosomes, but there were differences in the number of autosomal arms (FN = 90, 92, and 104) and in the morphology of the X chromosome (metacentric or acrocentric). The C-banding pattern was similar in all populations, autosomal heterochromatin was restricted to the centromere, and the Y chromosome was the only one that had completely heterochromatic arms. G-banding was useful in making arm-to-arm comparisons between the FN = 90 and FN = 104 karyomorphs; 23 shared pairs were found, 7 pairs differed due to pericentric inversions, and 3 pairs had no correspondence. We postulate that these karyomorphs probably correspond to allospecies, and that the specific denominations must correspond to two previously recognized populations of sigmodontine rodents: O. caracolus Thomas 1914 (2n = 66, FN = 90), for the populations from the Cordillera de la Costa, and O. meridensis Thomas 1894 (2n = 66, FN = 104), for the populations distributed between the middle and extreme north of the Andean range. The specific denomination for the populations of animals from the southern portion of the Andean range (Oryzomys sp., 2n = 66, FN = 92) is still to be determined.
Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase close to D1S514 and the centromeric D1Z5 locus
Authors: Morissette J. , Rhéaume E. , Leblanc J.-F. , Luu-The V. , Labrie F. , Simard J.
Published: May 2008

The enzyme 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD) catalyses an essential step in the biosynthesis of all steroid hormones. Consequently, classical 3β-HSD deficiency is responsible for a severe form of congenital adrenal hyperplasia. The HSD3B1 and HSD3B2 genes encoding the types I and II 3β-HSD isoenzymes, respectively, have been previously assigned by in situ hybridization to the chromosome 1p13.1 region. To determine the physical distance between these two genes, NotI and SacIIdigests of genomic DNA were resolved by pulse-field gel electrophoresis and hybridized with type I and type II 3β-HSD cDNAs used as probes. The detection of a single band under low stringency conditions indicates that HSD3B1 and HSD3B2 are located within an approximately 0.29 megabase SacII DNA fragment. We constructed a high resolution genetic map of the region flanking the polymorphic HSD3B1 and HSD3B2 genes including ten Généthon markers and the two NIH/CEPH markers AMY2B and D1Z5. The HSD3B1A and HSD3B2A markers were mapped relative to other reference markers through eight CEPH reference families. The order of polymorphic genes and markers is: pter-[AMY2B-DlS239]-DlS457-DlS502-D1S250-D1S252-[HSD3B1A-HSD3B2A-D1S514]-[D1Z5-D1S442]-D1S305-D1S303-D1S484-qter. The D1S514 marker was thus closely linked to HSD3B1A (Θ < 0.001; lod =14.13) and HSD3B2 (Θ = 0.008; lod = 35.36). The HSD3B loci are located 1–2 cM of the centromeric marker D1Z5.
Construction and analysis of microcell hybrids containing dual selectable tagged human chromosomes
Authors: Speevak M.D. , Bérubé N.G. , McGowan-Jordan I.J. , Bisson C. , Lupton S.D. , Chevrette M.
Published: May 2008

We have constructed a panel of human × murine microcell hybrids containing individual human chromosomes tagged with a dual selectable marker conferring hygromycin B resistance and ganciclovir sensitivity. Over 500 independent microcell hybrids (B78MC) were generated and more than 200 individually isolated. We have identified the human chromosome content of several B78MC hybrids and verified that the majority are responsive to positive and negative selection. Once fully characterized, this panel will be useful in the study of dominant regulators of gene activity, such as tissue specific regulators and tumor suppressor genes.
Trisomy 7 in nonneoplastic epithelial kidney cells
Authors: Elfving P. , Aman P. , Mandahl N. , Lundgren R. , Mitelman F.
Published: May 2008

Trisomy 7 has been found as the sole clonal chromosome aberration in a number of tumor types, including renal cell carcinomas (RCC), and also in non-neoplastic kidney tissue. It has recently been proposed that the cells harboring trisomy 7 in RCC and in the surrounding tissue may be tumor infiltrating T-helper lymphocytes. We performed cytogenetic analysis of metaphase cells and FISH of interphase nuclei in uncultured and cultured non-neoplastic kidney tissues from 13 patients with renal or urothelial carcinomas, and 4 patients with inflammatory kidney diseases. FISH analysis showed that the frequency of +7 varied between 1.0–8.9% (mean 3.3%) in uncultured cells and between 0.4–8.6 % (mean 4.4%) after one week of cell culture. The frequency of +7 after one week of culture was 1.0–19.0% (mean 6.1%) as determined by cytogenetic analysis. Immunoenzymatic staining of both uncultured and cultured cells with the alkaline phosphatase reaction and monoclonal antibodies for CD3 showed that the frequency of T-cells in uncultured cells and in primary cultures varied between 2.9–10%. The number of T-cells decreased with time and number of in vitro passages to less than 1 % after 7–8 weeks, but the frequency of +7 remained fairly constant. Combination of FISH with immunostaining using CD3 for T-lymphocytes and cytokeratins for epithelial cells showed that the cells with +7 were mainly epithelial cells whereas only 0–5 % were T-lymphocytes. The results have obvious implications for the interpretation of the significance of trisomy 7 in neoplasia.
Chromosomal distribution of the major satellite DNA of South American rodents of the genus Ctenomys
Authors: Rossi M.S. , Redi C.A. , Viale G. , Massarini A.I. , Capanna E.
Published: May 2008

The chromosomal distribution of the major satellite DNA of South American rodents of the genus Ctenomys was analyzed in eight species by in situ hybridization, using a probe isolated from C porteousi. The hybridization patterns showed different numbers of chromosomes with positive pericentromeric regions and/or complete short arms. In some species, a positive signal was scarce (or not detectable, as in C. opimus), and was usually located in the pericentromeric areas (C. occultus and C latro). In those species where the satellite was highly amplified, its chromosomal localization tended to encompass the entire length of the short arms. These patterns were compared with C-band distribution patterns in the same species. We discuss the putative evolutionary trend of this satellite DNA in the genus Ctenomys and suggest that it evolved from a strictly pericentromeric localization to comprising the whole short arms of some chromosomes.
Mapping of rat bilirubin UDP-glucuronosyltransferase gene (Ugt1a1) to chromosome region 9q35→q36
Authors: Nagai F. , Satoh H. , Mori S. , Sato H. , Koiwai O. , Homma H. , Matsui M.
Published: May 2008

Bilirubin and phenol UDP-glucuronosyltransferases (UGTs) are located on the same chromosome and comprise the UGT1 gene complex. A 1,763-bp cDNA probe (UGT1*0) specific for rat liver bilirubin UGT was used to localize the UGT1 complex locus (Ugt1a1) to chromosome region 9q35→q36 by fluorescence in situ hybridization. This assignment is the first report on the location of a gene of the rat UGT1 complex using high-resolution banded metaphase chromosomes.
Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation
Authors: Walker M.E. , Baker E. , Wallace J.C. , Sutherland G.R.
Published: May 2008

The gene for pyruvate carboxylase (PC) has been localised by fluorescence in situ hybridisation to normal and FPvA11A human chromosomes. PC maps to 11q13 and distal to FRA11A, localising PC to 11q13.4→q13.5.
Clonal origin of partially inactivated centromeres in a stable dicentric chromosome
Authors: Wandall A.
Published: May 2008

A stable dicentric human chromosome can appear to be both dicentric and monocentric, with either centromere in the primary constriction. Tetraploid cells were examined to determine if the chromosome bred true with respect to the three possible centromere configurations or if it could alternate between them. When a tetraploid cell contained two monocentric copies of the chromosome, the two copies would always have the same centromere in the primary constriction. However, some tetraploids contained one dicentric and one monocentric copy. Thus, centromere usage was fixed for the monocentric chromosomes, but it was not clear if truly dicentric chromosomes existed.
Human cDNA mapping using a high-resolution R-banding technique and fluorescence in situ hybridization
Authors: Korenberg J.R. , Chen X.-N.
Published: May 2008

High-resolution fluorescence in situ hybridization (FISH) is now an essential element in both human gene mapping and clinical cytogenetics. To facilitate its application, a series of techniques have been developed using FISH to map DNA probes in the size range of 1–1,000 kb directly on R-banded human chromosomes. Distinctive reverse (R) banding is achieved by staining with chromomycin A3 and distamycin A following in situ hybridization. The use of such counterstains enables simultaneous viewing of both the fluorescent R-bands and in situ hybridization signals by either standard photomicroscopy or an automated image-acquisition system. This method is rapid and reproducibly reveals bands at the 350–700 stage. Further, specific methods for chromosome preparation, hybridization, and signal production have been developed and applied in combination with R-banding. These methods are used for precise chromosomal localization of DNA sequences in sizes ranging from that of cDNA (>1 kb) through bacterial artificial chromosomes (100–150 kb) to yeast artificial chromosomes (>1 Mb). These techniques provide high-resolution methods for rapid mapping of human genes, expanding the applications of FISH techniques in basic research and clinical analysis.
Assignment of the human housekeeping δ-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids
Authors: Cotter P.D. , Drabkin H.A. , Varkony T. , Smith D.I. , Bishop D.F.
Published: May 2008

The precise map position of the human housekeeping δ-aminolevulinate synthase (ALAS1) gene has been localized to chromosome band 3p21.1. PCR analysis of somatic cell and radiation hybrids localized ALAS1 to the same distal region of 3p21.1 as the aminoacylase-1 gene.
Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1→q13.2
Authors: Levitt R.C. , Liu Z. , Nouri N. , Meyers D.A. , Brandriff B. , Mohrenweiser H.M.
Published: May 2008

Free fatty acids are the major source of fuel for mammals, and hormone sensitive lipase (LIPE) plays a critical role in lipid metabolism by mobilizing free fatty acids from stored triglycerides. We have identified and sequenced a partial cDNA for LIPE. Cosmids were identified by hybridization and mapped to 19q13.1 →q13.2 by FISH. Direct sequence analysis of a 1 kb segment of cosmid 26710 identifies a dinucleotide repeat in an intron upstream of exon 8 of human LIPE. This marker was heterozygous 82 % of the time with 12 alleles (166–190 bp) detected in 122 chromosomes. The most likely order for this gene is: qter-[D19S178/LIPE]-(3 cM)-D19S47-(1 cM)-D19S190-RYRl-cen.
The use of fluorescence in situ hybridization with a β-satellite DNA probe for the detection of acrocentric chromosomes in vanadium-induced micronuclei
Authors: Migliore L. , Scarpato R. , Falco P.
Published: May 2008

Vanadium salts have been shown to be aneuploidogenic in human lymphocyte cultures. In particular, increases in the frequency of chromosome satellite associations and a high proportion of induced micronuclei with centromeric signals seem to be connected with chromosome malsegregation mechanisms in which acrocentric chromosomes may be involved. Our aim was to assess the contribution of these chromosomes to the formation of vanadium-induced micronuclei by applying the fluorescence in situ hybridization technique to the human lymphocyte micronucleus assay. Whole blood cultures were treated after 24 h with 0, 10, 40, and 80 µM sodium orthovanadate or vanadyl sulfate and harvested at 72 h; vinblastine, 20 ng/ml, was used as a reference compound. The slides were then hybridized with biotin-labeled β-satellite DNA probes specific for all human acrocentric chromosomes. After chemical treatment, the percentage of micronuclei with fluorescent signals was found to be statistically higher than that in control cultures, whereas vinblastine induced only a slight increase in micronuclei.
High-resolution GTG-banding patterns of dog and silver fox chromosomes: description and comparative analysis
Authors: Graphodatsky A.S. , Beklemisheva V.R. , Dolf G.
Published: May 2008

The GTG-banding patterns and ideograms of two canid species, the domestic dog and the silver fox, are presented and compared. For both species the number of bands visualized has increased to well over 400. A standard dog karyotype is proposed.
A mapping study of 13 genes on human chromosome bands 4q11→q25
Authors: Chen C.-S. , Bejcek B.E. , Kersey J.H.
Published: May 2008

A chromosome band 4q21 gene (MLLT2, formerly called AF-4/FEL) involved in a reciprocal translocation with chromosome band 11q23 in t(4;11) acute leukemia has been cloned. To provide better definition of gene order and relationships in this region where MLLT2 resides, we used pulsed field gel electrophoresis (PFGE) to investigate 13 genes (including MLLT2) with physical locations in bands 4q11→q25. Somatic cell hybrids derived from RS4; 11 a leukemic cell line carrying the t(4; 11 )(q21 ;q23), were also used to localize genes in relation to MLLT2. Linkage of the interleukin 8 (IL8), albumin (ALB), and platelet factor 4 (PF4) genes was confirmed by NotI, SalI and SacIIdigests. The maximum distance between PF4 and ALB is 210 kb and between ALB and IL8 is 420 kb. The alcohol dehydrogenase, class I (ADH2, ADH3) gene cluster can be linked to the alcohol dehydrogenase, class III gene (ADH5) by SacII, NruI, and EagI digests. The maximum distance between them is 590 kb. Our study indicated that ALB, α-fetoprotein (AFP), PF4, β-thromboglobulin (PPBP), GROl (encoding a cytokine also called melanoma growth-stimulatory activity), and IL8 genes can be physically linked. In this study the γ-interferon induced protein 10 (INP10), bone morphogenetic protein 3 (BMP3), annexin III (ANX3), KIT, amphiregulin (AREG), immunoglobulin J polypeptide (IGJ), deoxycytidine kinase (DCK) and MLLT2 genes were not linked to one another or to the above two groups of genes. Our analysis using somatic cell hybrids combined with previous reports demonstrated that the ADH gene cluster is telomeric to MLLT2 and KIT, ALB, AFP, PF4, βTG, GROl, IL8, ANX3, AREG and DCK are centromeric to MLLT2.
Meiosis I in human oocytes
Authors: Angell R.R.
Published: May 2008

Oocytes aspirated from women undergoing laparoscopic sterilisation were matured in vitro from the germinal vesicle stage. They showed that germinal vesicle breakdown spanned a period of about 12 h; the oocytes were at diakinesis by 12 h, and at metaphase I by 16 h where they remained for a further 10–12 h. Anaphase I took place after about 26 h. The meiotic preparations lacked the clarity of chromosome definition seen in mouse oocytes and accurate chiasma counts could not be made. However univalents at first meiotic metaphase could be detected without ambiguity and were found in women significantly older than those whose metaphase I oocytes contained bivalents only.
Subregional localization of 14 yeast artificial chromosomes to human chromosome region 1p by fluorescence in situ hybridization
Authors: Vernole P. , Caporossi D. , Tedeschi B. , Nicoletti B. , Van Ommen G.J.
Published: May 2008

We have sub localized to the region between 1p22 and lp33 a total of 14 yeast artificial chromosomes previously assigned to a broader area of human chromosome 1p. Our purpose was to map DNA sequences that could be used for the molecular characterization of the two common fragile sites present in bands 1p31.2 and 1p32, the expression of which is increased in patients with neuroblastomas.
Comparative mapping of the gene encoding the catalytic subunit of protein phosphatase type 1α (PPP1CA) to human, rat, and mouse chromosomes
Authors: Saadat M. , Mizuno Y. , Kikuchi K. , Yoshida M.C.
Published: May 2008

Using fluorescence in situ hybridization method, the gene encoding the protein phosphatase type 1α catalytic subunit (PPP1CA) was localized to human chromosome band 11q13, rat chromosome band 1q43, and mouse chromosome band 7E3-F2. These results suggest that PPP1CA is a member of asyntenic group.
Regional localisation of 19 brain expressed sequence tags to human chromosome 11 using PCR amplification of somatic cell hybrid DNAs
Authors: Slorach E.M. , Polymeropoulos M.H. , Evans K.L. , Seawright A. , Fletcher J.M. , Porteous D.J. , Brookes A.J.
Published: May 2008

Expressed sequence tags (ESTs) provide an efficient route to the identification of genes involved in normal development and in disease. PCR amplification of somatic cell hybrid DNAs was used to localise 22 brain-derived ESTs to subregions of human chromosome 11. Problems encountered with the standardised PCR conditions were overcome by optimising the annealing temperatures and the use of “touchdown” PCR. Amplification of the correct target sequence allowed the mapping of 19 ESTs, 8 to the short arm and 11 to the long arm of chromosome 11. No definitive localisation could be determined for the three remaining ESTs.
Fifty novel sequence-tagged sites (STSs) on human chromosome 11q13.4→q25 identified from microclones generated by microdissection
Authors: Soejima H. , Yoshiura K. , Tamura T. , Tokino T. , Nakamura Y. , Niikawa N. , Jinno Y.
Published: May 2008

Fifty sequence-tagged sites (STSs) from human chromosome region, 11q13.4→q25 were identified in micro-dissection-generated microclones. From a total of 124 single-copy microclones obtained from regions 11q14→q22 and 11q23→q25, 59 were sequenced, and a PCR primer pair was designed for each of them. Fifty of the 59 clones were mapped to regions ranging from 11q1 3.4 to 1 1q25 by means of PCR on a somatic hybrid cell panel with various deletions of the long arm of human chromosome 11. These STSs will contribute to the construction of physical cosmid/YAC maps representing the chromosome regions. They are also useful for analysis of chromosome aberrations, such as translocations, inversions or marker chromosomes.
Sequence identity locates CEBPD and FGFR1 to mapped human loci within proximal 8p
Authors: Wood S. , Schertzer M. , Yaremko M.L.
Published: May 2008

The gene loci for human CEBPD (CCAAT enhancer binding protein, δ chain) and FGFR1 (fibroblast growth factor receptor) have been identified within two genetically mapped cosmids by sequence homology between rare cutter site regions and data base sequences for these loci. Cell hybrid and fluorescence in situ hybridization mapping places both of these loci within the chromosome region 8p11.2→p11.1.
Partial nucleotide sequence and chromosomal localization of a bovine zinc finger gene ZNF164
Authors: Le Chalony C. , Pibouin L. , Hayes H. , Apiou F. , Dutrillaux B. , Goubin G.
Published: May 2008

A clone carrying an open reading frame coding for a novel zinc finger protein of the Krüppel family was isolated from a bovine genomic library and designated ZNF164 (zinc finger protein 164). Partial sequencing revealed that it contained at least 13 zinc finger motifs preceded by a lysine-rich region of 60 amino acids. The ZNF164 protein shared -60% similarity with several zinc finger proteins but did not appear to be orthologous with a previously identified gene. Using fluorescence in situ hybridization, the ZNF164 gene was mapped to bovine chromosome band 17q24.
The human S-adenosylmethionine decarboxylase gene: nucleotide sequence of a pseudogene and chromosomal localization of the active gene (AMD1) and the pseudogene (AMD2)
Authors: Maric S.C. , Crozat A. , Louhimo J. , Knuutila S. , Jänne O.A.
Published: May 2008

S-adenosylmethionine decarboxylase (AdoMetDC) is a key enzyme in polyamine biosynthesis. The human genome contains at least two loci for the AdoMetDC gene (AMD), one of which (AMD1) has previously been mapped to chromosome 6 and the other (AMD2) to the X chromosome. The locus on chromosome 6 is the transcriptionally active gene. We now report characterization of the AMD2 locus (GenBank Accession No. U02035) on the X chromosome, which contains sequences that cross-hybridize with human AdoMetDC cDNA. This DNA lacks all of the introns present in AMD1 and has numerous mutations in the protein-coding region. Its overall nucleotide sequence identity with AdoMetDC cDNA is about 90%. AMD2 is therefore a processed pseudogene, which, because of multiple mutations, cannot be translated to an active AdoMetDC enzyme, even if it were transcribed. Chromosomal loci for human AMD sequences were determined by in situ hybridization to metaphase chromosomes, with genomic DNAs from the active gene and the pseudogene loci as probes. AMD1 was localized to chromosome region 6q21→q22 and AMD2 to band Xq28.
Sequence of mouse Odf1 cDNA and its chromosomal localization: extension of the linkage group between human chromosome 8 and mouse chromosome 15
Authors: Hoyer-Fender S. , Burfeind P. , Hameister H.
Published: May 2008

The mouse cDNA encoding the major protein of the outer dense fibers in sperm tails was isolated by reverse transcription of testicular RNA and amplification with sequence-specific primers. Sequencing of a genomic clone obtained by inverse PCR yielded the 5’ untranslated region. The transcription starting point was verified by primer extension. The putative proteins encoded by Odfl in mouse and by ODF1 in rat and man are very similar. A total of 15 amino acids in the C-terminal region were deleted in the mouse protein, compared with the rat protein. Through in situ hybridization to metaphase chromosomes, the Odfl gene was localized to mouse chromosome 15 region B2-C. The chromosomal localization of the Odfl gene extends the hitherto known linkage group consisting of MYC (Myc), PVT1 (Pvt1), GPT (Gpt), and TG (Tg) common to human chromosome 8 and mouse chromosome 15 in the proximal direction of both chromosomes. The linkage group now extends from band q24 to band q22 of human chromosome 8 and from region D2-E to region B2-C of mouse chromosome 15.
Chromosome painting analysis of early oogenesis in human trisomy 18
Authors: Cheng E.Y. , Chen Y.-J. , Gartler S.M.
Published: May 2008

We have used chromosome 18-specific painting probes to analyze early stages of oogenesis in two human trisomy 18 fetuses. At leptotene, a diffuse, nonlinear chromosomal fluorescence was detected as one (27%), two (42%), or three (31 %) signals in 534 cells. The variation in size of these signals implies the possibility of associations between homologs prior to zygotene. At pachytene, about 75 % (339/453) of the cells had a trivalent configuration, and almost half of these cells exhibited almost complete triple synapses. Approximately 24% of the pachytene cells demonstrated a bivalent:univalent configuration, and 1 % exhibited complete asynapsis. Our data imply that triple synapses may be a regular feature of meiosis involving multivalents.
Isolation and mapping of the human beta-signal sequence receptor gene (SSR2)
Authors: Chinen K. , Sudo K. , Takahashi E. , Nakamura Y.
Published: May 2008

We have isolated a human cDNA clone homologous to the canine beta-signal sequence receptor gene, which codes for an endoplasmic reticulum (ER) membrane protein associated with protein translocation across the ER membrane. Northern blot analysis revealed its ubiquitous expression in all organs examined. We also localized the human beta-signal sequence receptor gene (SSR2) to chromosome bands 1q21→q23 by fluorescence in situ hybridization.
PCR amplification and physical localization of the genes for pig FSHB and LHB
Authors: Mellink C. , Lahbib-Mansas Y. , Yerle M. , Gellin J.
Published: May 2008

Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) are members of the glycoprotein hormone family and play essential roles in gametogenesis and sexual development of mammals. Fragments of the porcine genes coding for the β subunits of FSH and LH were amplified by PCR and used as probes for radioactive in situ hybridization in order to map these loci in the pig. Primers were chosen on the genomic DNA nucleotide sequences of FSHB and LHB as published in GenBank. Fragments of 1,127 bp (FSHB) and 1,239 bp (LHB) were cloned and verified by sequencing. FSHB was localized to pig chromosome bands 2p1.6→p1.2 and LHB to pig chromosome band 6q2.1. The localization of LHB to the so-called halothane region of chromosome 6 could be expected from comparative mapping data. For FSHB, no conclusions can be drawn in this respect since, up to the present, too few genes are located on porcine chromosome 2.
Hemizygosity at the insulin-like growth factor I eceptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome
Authors: Peoples R. , Milatovich A. , Francke U.
Published: May 2008

The ring chromosome 15 syndrome is characterized by mild-to-severe growth failure. We evaluated the status of the insulin-like growth factor I receptor (IGF1R) gene, which had previously been assigned to band 15q26 in several patients with de novo ring 15 chromosomes, to investigate a possible correlation between disruption or loss of the IGF1R gene with the severe growth failure phenotype. The presence or absence of the IGF1R gene on the ring 15 chromosomes of five patients was ascertained by in situ hybridization and gene-dosage (Southern) blotting. The location of the breakpoints was determined by typing polymorphic markers from the distal end of the long arm of chromosome 15 in both the probands and their parents. Deletion mapping determined that all breakpoints were distal to D15S100 and that the IGF1R gene is located between D15S107 and D15S87. Three patients who had suffered severe growth failure in early childhood were hemizygous at the IGF1R locus, while one patient with borderline short stature had two copies of the IGF1R gene. The correlation between IGF1R gene dosage and growth retardation demonstrated here in our ring chromosome 15 patients suggests a possible role for heterozygous IGF1R gene mutations or deletions in other cases of unexplained growth failure.
Molecular cloning, characterization, and chromosomal mapping of a novel human gene (GTF3A) that is highly homologous to Xenopus transcription factor IIIA
Authors: Arakawa H. , Nagase H. , Hayashi N. , Ogawa M. , Nagata M. , Fujiwara T. , Takahashi E. , Shin S. , Nakamura Y.
Published: May 2008

We have isolated a novel human cDNA that is highly related to Xenopus transcription factor IIIA (TFIIIA). This clone contains an open reading frame of 1,269 nucleotides encoding 423 amino acids, including nine repeats of the Cys2 His2-type of zinc-finger domain. A comparison of its sequence with Xenopus TFIIIA revealed 63 % identity in nucleic acids and 58 % identity in amino acids over a large portion of the gene and predicted peptide, indicating that the human homologue is likely to function as a transcription factor. The zinc-finger domains of the predicted protein also showed homology with those of human genes such as WT1, transcriptional repressor YY1, and MYC-associated zinc-finger protein (MAZ). Northern analysis showed expression in various tissues examined. The human TFIIIA gene (GTF3A) was localized to chromosome band 13q12.3→q13.1 by fluorescent in situ hybridization (FISH).
Establishment of permanent wild-mouse cell lines with readily identifiable marker chromosomes
Authors: Zörnig M. , Klett C. , Lovec H. , Hameister H. , Winking H. , Adolph S. , Möröy T.
Published: May 2008

Physical gene mapping by in situ hybridization is a difficult task in an all-acrocentric mouse karyotype, because all of the chromosomes are morphologically very similar. These difficulties can be overcome by using the many different meta-centric Robertsonian translocation (Rb) chromosomes derived from wild mice. Here we describe the establishment of two Moloney murine leukemia virus-transformed suspension cell lines, WMP-1 and WMP-2, derived from wild mice of the strain WMP/WMP. These mice carry nine pairs of metacentric Rb chromosomes containing chromosomes 1 to 18. Chromosome 19 and the sex chromosomes are the only acrocentric chromosomes. Furthermore, a heterozygous reciprocal translocation between chromosomes 13 and 17 involved in two Rb chromosomes is present in this stock and provides additional marker chromosomes. The chromosome designation of these mice is Rb(10.17)9MplRb(13.15)10MplT(13.17)1Lub.
Lysosomal chitobiase (CTB) and the G-protein γ5 subunit (GNG5) genes co-localize to human chromosome 1p22
Authors: Ahmad W. , Li S. , Chen H. , Tuck-Muller C.M. , Pittler S.J. , Aronson Jr. N.N.
Published: May 2008

Previously isolated human placental cDNA clones represent a fusion of specific RNA sequences encoded by two genes: lysosomal chitobiase (CTB) and G-protein γ5 subunit (GNG5, Fisher and Aronson, 1992a, 1992b). Both genes have now been mapped to 1p by PCR analysis of somatic cell hybrids and further refined to 1p22 by fluorescence in situ hybridization (FISH) using a YAC clone that contains both the chitobiase and 75 genes.
Aneuploidy in human sperm: results of two- and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y
Authors: Spriggs E.L. , Rademaker A.W. , Martin R.H.
Published: May 2008

To understand the mechanisms that affect aneuploidy, fluorescence in situ hybridization (FISH), using chromosome-specific centromeric probes, was employed to screen a large population of human sperm for numerical errors. To determine the true rate of disomy for chromosomes 1, 12, 15, and 18, two-color FISH was performed, and for the gonosomes, three-color FISH. The use of multiple, differently colored probes allows one to distinguish a true disomic sperm from a diploid cell. A minimum of 10,000 sperm nuclei from each of five donors was scored per set of centromeric probes, giving a total of 165,330 sperm nuclei. The disomy frequencies for autosomes 1, 12, 15, and 18 were found to be similar, with a mean of 0.10% (range, 0.05%–0.16%) for chromosome 1, 0.16% (0.10%–0.25%) for chromosome 12, 0.11% (0.07%–0.20%) for chromosome 15, and 0.11% (0.08%–0.17%) for chromosome 18. For the sex chromosomes, the mean frequency of disomy was found to be 0.43% (range, 0.23%–0.71%), with XX disomy accounting for 0.07% (0.03%–0.10%), YY disomy 0.21% (0.10%–0.43%), and XY disomy 0.15% (0.08%–0.24%). The incidence of disomic sperm for the sex chromosomes was significantly increased, compared to the frequency of disomy for the autosomes (χ2 = 218.61 P < 0.0001). Diploidy was observed in 0.05%-0.47% of the sperm nuclei counted. Interdonor heterogeneity for disomy frequencies was found to exist for the sex chromosomes and for chromosomes 1 and 15, suggesting significant variation among normal men.
Unique sequence STSs for 21 cytogenetically mapped loci on human chromosome 19
Authors: Mohrenweiser H.W. , Tsujimoto S. , Tynan K. , Lamerdin J. , Carrano A.V.
Published: May 2008

Sequence-tagged sites (STSs) are key elements in efforts to construct and integrate the various physical maps of a genome. We report the development of 21 STSs assigned to cosmids mapped to specific locations on human chromosome 19 by fluorescence in situ hybridization (FISH). At least one STS has been assigned to each band. The PCR primers generate a single product from genomic DNA. Each product is a single copy probe for Southern blots of human genomic DNA. YACs have been identified with 18 of these STSs.
Localization of the Chinese hamster MHC locus to chromosome 1q17→q18 by fluorescence in situ hybridization
Authors: Rassool F.V. , Neilly M.E. , McGuire K.L , McKeithan T.W. , Le Beau M.M.
Published: May 2008

Comparative gene mapping analysis in mammals suggests that the major histocompatibility complex (MHC) genes map syntenic with genes, such as glyoxylase 1 (GLO1). In man, the MHC locus and other genes of this syntenic group map to chromosome band 6p21.3, and in mouse, these genes map to chromosome 17. In the hamster, however, only the GLOl gene has been localized; GLO1 maps to chromosome 1, suggesting that the genes within the MHC locus also map to this chromosome. We have localized the hamster MHC class I genes to chromosome band 1q17→q18 by fluorescence in situ hybridization (FISH). These results suggest that GLOl and other syntenic genes also lie within this chromosome region.
Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies
Authors: Cuthbert A.P. , Trott D.A. , Ekong R.M. , Jezzard S. , England N.L. , Themis M. , Todd C.M. , Newbold R.F.
Published: May 2008

Humamrodent somatic cell hybrids carrying a single, intact, selectable human chromosome are valuable both for functional somatic cell genetic analysis and genome mapping procedures. Here, we describe the construction and detailed molecular cytogenetic characterization of a panel of 23 stable hybrids, representing all 22 human autosomes plus the X-chromosome. Individual normal human chromosomes have been tagged with a selectable fusion gene (Hytk) introduced into the chromosome in a small (4.2 kbp) retro viral vector. Use of the Hytk marker permits both positive and negative (“in-out”) selection to be applied to the human chromosome in any mammalian cell background. The panel includes 18 new hybrids isolated by direct microcell transfer from normal human diploid fibroblasts into mouse A9 cells.
Localization of the genes encoding the three rat angiotensin II receptors, Agtr1a, Agtr1b, Agtr2, and the human AGTR2 receptor respectively to rat chromosomes 17q12, 2q24 and Xq34, and the human Xq22
Authors: Tissir F. , Rivière M. , Guo D.-F. , Tsuzuki S. , Inagami T. , Levan G. , Szpirer J. , Szpirer C.
Published: May 2008

Using fluorescence in situ hybridization, we determined the regional localization of the 3 rat genes encoding angiotensin II receptors at 17q12 (Agtr1a), 2q24 (Agtr1b) and Xq34 (Agtr2). In parallel, we showed that the type 2 human gene, AGTR2, also maps on the X chromosome, at band Xq22.
Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients
Authors: Bianchi M.S. , Bianchi N.O. , Bailliet G.
Published: May 2008

We have characterized the mtDNA in normal and breast cancer tissues from seven patients. Both types of tissue showed point mutation heteroplasmies and extensive deletions of the mtDNA. The analysis of these polymorphisms allowed us to infer the mtDNA composition of the breast cell that underwent malignant transformation.
Localization of the murine homolog of the anaplastic lymphoma kinase (ALK) gene on mouse Chromosome 17
Authors: Mathew P. , Morris S.W. , Kane J.R. , Shurtleff S.A. , Pasquini M. , Jenkins N.A. , Gilbert D.J. , Copeland N.G.
Published: May 2008

The murine hornolog of the human anaplastic lymphoma kinase gene, which encodes a membrane-spanning receptor tyrosine kinase in the insulin receptor kinase subfamily, was assigned to mouse Chromosome 17 by interspecific backcross analysis. This assignment further confirms the homology between a portion of the distal Chromosome 17 and the short arm of human chromosome 2 and extends this region in the mouse by an additional 3 cM.