bluuebunny/crossref_metadata_2025 huggingface dataset:
Mapping studies and expression of genes located on human chromosome 11, band q23
Authors: Savage P.D. , Jones C. , Silver J. , Geurts van Kessel A.H.M. , Gonzalez-Sarmiento R. , Palm L. , Hanson C.A. , Kersey J.H.
Published: May 2008

Chromosome translocations and deletions may alter cellular proto-oncogenes and result in cellular changes that are important in the pathogenesis of malignancy. The region 11q23 is frequently involved in human malignancy. Utilizing a leukemic cell line with a reciprocal translocation involving 11q23 and somatic cell hybrids derived from this cell line, we analyzed five genes assigned to 11q23: NCAM, CD3D, CD3E, THY1, and ETS1. Our data showed no evidence of direct involvement of these genes in this leukemia but enabled a partial genetic map of this important region of the human genome to be constructed: 11cen—NCAM—CD3([G, D], E)—//—(ETS1, THY1)— 11qter.
Pachytene pairing in relation to sperm and oocyte numbers in a male-fertile reciprocal translocation in the mouse
Authors: Setterfield L.A. , Mahadevaiah S. , Mittwoch U.
Published: May 2008

In adult males carrying the male-fertile reciprocal translocation T(2;4)13H, body weights, testis weights, and sperm counts were higher in heterozygotes than in homozygotes. Heterozygotes whose mothers were C3H/He exceeded their reciprocal counterparts in the same criteria. At 3–4 days of age, no significant differences between homozygous and heterozygous females were found in body weight, ovarian volume, or oocyte numbers, although mean oocyte volumes were somewhat larger in heterozygotes than in homozygotes. In homozygous males and females the synaptonemal complexes of rearranged chromosomes appeared as bivalents that were indistinguishable from normal bivalents. In most gametocytes of heterozygotes, the translocation was present in the form of a quadrivalent. The degree of pairing failure was greater in oocytes than in spermatocytes. Terminal asynapsis of quadrivalents was very rare in spermatocytes, but it affected one quarter of the oocytes. Only very few translocation configurations were associated with the XY bivalent. It is concluded that the number of sperm produced in male heterozygotes can match the general increase in vigor by the formation of a high level of fully paired quadrivalents, whereas a greater degree of terminal asynapsis in the quadrivalents of oocytes may indicate a slightly more deleterious effect of this translocation on oogenesis.
Karyotypic rearrangements in 20 uterine leiomyomas
Authors: Nilbert M. , Heim S. , Mandahl N. , Flodérus U.-M. , Willén H. , Mitelman F.
Published: May 2008

Short-term cultures from 106 uterine leiomyomas have been cytogenetically investigated. In 29 cases the number of metaphases was insufficient for analysis. A normal female karyotype was found in 57 tumors and clonal chromosome rearrangements in 20. A reciprocal translocation, t(12;14) (q14→q15;q23→q24), was observed in 10 tumors and probably represents a primary change of tumorigenic importance. In four of the tumors containing this specific anomaly, secondary chromosome changes were also present. The 10 karyotypically abnormal leiomyomas without a t(12;14) had various structural and numerical aberrations involving chromosomes 1, 2, 3, 4, 6, 8, 9, 10, 11, 12, 13, and 19. Different structural changes of chromosome 1 were the second most frequent abnormalities, being found in five tumors. Ring chromosomes were observed in three cases, but never as the sole change.
On the highest chromosome number in mammals
Authors: Schmid M. , Fernández-Badillo A. , Feichtinger W. , Steinlein C. , Roman J.I.
Published: May 2008

The mitotic and meiotic chromosomes of the semi-aquatic rodent Ichthyomys pittieri (Rodentia, Cricetinae) from Venezuela were analyzed by means of conventional staining and several banding techniques. The diploid chromosome number of this rare species is 2n = 92, which is the highest value known for mammals. It is assumed that this exceptionally high chromosome number is the result of repeated centric fissions. The karyotype of /. pittieri was compared with that of Anotomys leander, for which a diploid number of 2n = 92 has also been reported. The karyological relationships existing within the Neotropical Cricetidae are summarized.
In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus
Authors: Duncan A.M.V. , Buchwald M. , Tsui L.-C.
Published: May 2008

Two DNA sequences closely linked to the cystic fibrosis locus have been sublocalized to 7q31.3→q32 by in situ hybridization. These findings are consistent with previously published maps of that region of human chromosome 7. The cystic fibrosis locus therefore maps to the 7q31.3→q32 region, a more distal location than had been inferred from previous data.
Allocation of a transgenic c-myc integration site to mouse chromosome 8B3-C1
Authors: Beermann F. , Hummler E. , Franke U. , Hansmann I.
Published: May 2008

A recombinant plasmid containing the mouse c-myc gene was injected into mouse pronuclei. The transgenic line 478 contains about 100 copies of the transgene integrated into one chromosome site. By in situ hybridization, the integration site was localized to chromosome 8B3-C1.
Synaptic adjustment in Peromyscus beatae (Rodentia: Cricetidae) heterozygous for interstitial heterochromatin
Authors: Sudman P.D. , Greenbaum I.F. , Hale D.W. , Smith S.A.
Published: May 2008

Chromosomal pairing and chiasma formation were studied two individuals of Peromyscus beatae heterozygous for the presence of a large block of interstitial heterochromatin. Although the modified chromosome was of medium size, analysis of C-banded diakinetic configurations revealed that it was the homolog of one of the smallest autosomes. Analysis of silver stained synaptonemal complexes indicated that synapsis was either unidirectional from initiation at one set of telomeres or was bidirectional from initiation at both sets of telomeres. Each pattern resulted in characteristic heteromorphic pairing configurations (interstitial asynapsis or terminally positioned unpaired segments) in early pachynema. These configurations underwent synaptic adjustment and, by mid-pachynema, the lateral elements of the polymorphic bivalent either appeared typical of homomorphic bivalents or exhibited regional heteropycnosis in one or both axes. Synaptonemal complex data for Peromyscus and many other mammalian species reflect an apparent need for fully paired, linear bivalents prior to the end of pachynema.
Immunocytogenetics
Authors: Haaf T. , Winking H. , Schmid M.
Published: May 2008

Mice heterozygous for one or more Robertsonian (Rb) translocation chromosomes have been used to analyze synaptonemal complex (SC) configurations and kinetochore arrangements in trivalents and multivalents. Rb heterozygosity without arm homologies leads to the formation of heteromorphic trivalents in meiosis I; alternating homology of the chromosome arms produces ringlike or chainlike multivalents. Immunofluorescence double-labeling with human antibodies to SCs and kinetochores was performed on surface-spread pachytene spermatocytes. Both Rb bivalents and Rb trivalents clearly showed that metacentrics possess only one centromere. In heteromorphic trivalent SCs, the nonhomologous kinetochores of the two acrocentrics were closely paired in a cis configuration and juxtaposed opposite the kinetochore of the metacentric; the latter appeared to be an integral part of the longitudinal SC axis. Meiotic multivalents of interpopulation hybrids included up to 36 chromosome arms. In multivalent SCs, the kinetochores always lay together, with the SC arms arranged away from the central centromere cluster. The paracentromeric regions of the Rb chromosomes appeared to remain unsynapsed on both sides of the centromeres. The SC arms were often linked by end-to-end associations. Following desynapsis of the multivalent SC, the kinetochores of the Rb metacentrics showed a highly nonrandom topologic distribution within the nucleus, reminiscent of their arrangement during synapsis.
Assignment of the rat genes coding for medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the β subunit of propionyl-CoA carboxylase to chromosomes 2, 3, and 8, respectively
Authors: Szpirer C. , Kraus J.P. , Rivière M. , Swaroop M. , Ohura T. , Matsubara Y. , Szpirer J. , Islam M.Q. , Levan G.
Published: May 2008

From the analysis of mouse × rat cell hybrids which segregate rat chromosomes, the rat genes coding for the enzymes medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the β-subunit of propionyl-CoA carboxylase have been assigned to chromosomes 2, 3, and 8, respectively.
Berenil-induced undercondensation in human heterochromatin
Authors: Haaf T. , Feichtinger W. , Guttenbach M. , Sanchez L. , Müller C.R. , Schmid M.
Published: May 2008

The aromatic diamidine berenil specifically inhibits the condensation of a subset of constitutive heterochromatin in human lymphocyte cultures. In the normal male chromosome complement, only the quinacrine-brilliant Y heterochromatin exhibits distinct undercondensation. The optimal culture conditions for inhibiting heterochromatin condensation are achieved when berenil is added at a final concentration of 150 µg/ml 24 h before cell harvest. Various examples of the use of berenil in the analysis of chromosome rearrangements involving quinacrine-brilliant heterochromatin are presented. A variant, giant-satellited chromosome 22 was found to respond to berenil treatment, although its enlarged and quinacrine-bright short-arm region did not contain Y heterochromatin. Southern blot analysis and chromosome in situ hybridization suggested that most chromosome 22 variants do not stem from Y; acrocentric translocations. The experimentally undercondensed Y heterochromatin is characterized by moderate C-band labeling, bright quinacrine fluorescence, and specific silver staining. At the ultrastructural level, undercondensation is associated with loosely packed, mutliply folded chromatin fibers with a diameter of approximately 250 Å and organized probably as loops.
A putative homoeolog of human chromosome 12 in the owl monkey
Authors: Ma N.S.F. , Harris T.S.
Published: May 2008

Analyses of Southern blots of rodent × owl monkey somatic cell hybrids permitted syntenic assignment of gene loci coding for triosephosphate isomerase (TPI), antigen CD4(T4), Kirsten rat sarcoma 2 (KRAS2) virus, insulin-like growth factor 1 (IGF1), and α2-macroglobulin (A2M) to chromosome 10 of owl monkey karyotype VI (2n = 49, 50). In addition, regional in situ localization of the T4 and KRAS2 loci on the proximal region of the long arm of this acrocentric chromosome and on the corresponding homologous region on the long arm of metacentric chromosome 1 of karyotype IV (2n = 52) substantiated our hypothesis that a single fusion or fission event is responsible for the polymorphism in chromosome number characteristic of owl monkeys from at least three allopatric populations. The study supports a putative homoeology between owl monkey chromosome 10 (K-VI) and human chromosome 12. The morphological differences between these two primate chromosomes indicate evolutionary rearrangements involving at least one pericentric inversion.
Assignment of the gene for the E1α subunit of branched chain α-ketoacid dehydrogenase to chromosome 19
Authors: Crabb D.W. , Deaven L.L. , Luedemann M. , Zhang B. , Harris R.A.
Published: May 2008

The gene encoding the E1α subunit of branched chain α-ketoacid dehydrogenase was mapped to human chromosome . 19.32P-labeled human Elα cDNA was hybridized with DNA derived from flow-sorted human chromosomes; it hybridized exclusively with that from chromosome 19
Restriction fragment length polymorphisms of the angiotensinogen gene in inbred rat strains and mapping of the gene on chromosome 19q
Authors: Mori M. , Ishizaki K. , Yamada T. , Chen H. , Sugiyama T. , Serikawa T. , Yamada J.
Published: May 2008

Using a cDNA probe of the rat angiotensinogen gene (ANG), restriction fragment length polymorphisms (RFLPs) were detected in inbred rat strains with the restriction enzymes Hindlll, PstI, and Pvull. Three alleles of ANG were almost equally distributed in 11 inbred strains. In two sets of backcross progeny originating from parental strains with different alleles, no close linkage was found between the ANG locus and 17 other loci tested. In situ hybridization, however, allowed assignment of the gene to chromosome 19q. The RFLPs of the angiotensinogen gene, therefore, can be considered useful as markers of rat chromosome 19.
The gene coding for proteins HC and HI-30 of inter-alpha-trypsin inhibitor maps to 9q22.3→q33
Authors: Traboni C. , Tosini F. , Covone A. , Romeo G. , Rocchi M.
Published: May 2008

Proteins HC and HI-30 of inter-alpha-trypsin inhibitor light chain are two plasma proteins. They are encoded by the same monocistronic mRNA. Their function is probably related to the regulation of immunologic and/or inflammatory responses. Using a genomic DNA probe and a panel of somatic cell hybrids we have mapped the gene coding for the proteins to chromosome 9. In situ hybridization experiments refined the assignment to the region 9q22.3→q33.
Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific α satellite DNA from human chromosomes 1 and 7
Authors: Alitalo T. , Willard H.F. , de la Chapelle A.
Published: May 2008

A whole-arm translocation involving the short arm of chromosome 7 and the long arm of chromosome 1 occurs nonrandomly in myelodysplastic syndrome and acute nonlymphocytic leukemia. In situ hybridization, using α satellite DNA specific for the centromeric regions of chromosomes 1 (probe pSD1-1) and 7 (probe p21-4), was performed to determine the exact breakpoints of the translocation. Both probes hybridized to the centromeric region of the translocation chromosome in metaphases from two patients with myelodysplastic syndrome. Both probes hybridized with approximately equal strength to either chromosome 1 or 7 and to the 1;7 translocation chromosome, suggesting that the t(1;7) had retained the chromosome-specific α satellite DNA from both chromosomes. These studies permit us to propose a new description, t(1;7)(cen;cen), for this translocation.
Analysis of human metaphase chromosomes using antibodies to double-stranded and single-stranded DNA: staining patterns are related to DNA conformation
Authors: Mezzanotte R. , Peretti D. , Ennas M.G. , Vanni R. , Sumner A.T.
Published: May 2008

Fresh and 6-day-old fixed chromosome spreads, both untreated and treated with various banding techniques and nucleases, were stained using monoclonal antibodies to double-stranded and single-stranded DNA. DNA in fixed chromosome preparations became progressively denatured with ageing. The staining pattern of untreated chromosomes with anti-double-stranded DNA antibodies (which resembles G-banding) was determined by the conformation of the chromosomal DNA.
Three infants having null acute lymphoblastic leukemia with chromosome rearrangements at 11q23: no involvement of a heritable fragile site in this band
Authors: van den Berghe J.A. , Malcolm S. , Katz F.E. , Gibbons B. , Czepulkowski B. , Chessells J.M.
Published: May 2008

Three families are presented in which an infant with null acute lymphoblastic leukemia had a karyotype rearrangement involving a break at 1 lq23. Peripheral blood was obtained, where possible, from both parents and from the child during periods of remission. The blood was stimulated with phytohemagglutinin and cultured under conditions that enhance expression of heritable folate-sensitive fragile sites. In all individuals studied very low levels of fra(l l)(q23.3) were observed. These levels were far below those recorded for expression of the heritable folate-sensitive site fra(l l)(q23.3) but are comparable with expression of the common fragile site fra(l l)(q23.3) under these conditions.
Chromosomal assignment of 14 genomic probes for highly polymorphic loci
Authors: Cohen-Haguenauer O , Van Cong Nguyen , Knowlton R.G. , de Tand M.-F. , Jegou C. , Gross M.-S. , Brown V.A. , Frézal J. , Donis-Keller H.
Published: May 2008

Over 500 probes revealing restriction fragment length polymorphisms (RFLPs) have been isolated by Schumm et al. (1988). We describe here the chromosomal assignment of 14 of the most highly polymorphic markers in that set of probes, with polymorphism information content values of up to 0.98. The probes were mapped using a panel of human × rodent somatic cell hybrids and were found to be distributed among nine different autosomes. Chromosome localization of such highly polymorphic markers has been an important step in the construction of the human genetic map, as a large number of RFLP probes has now been localized by genetic linkage studies to these loci.
Localization of the gene coding for parathymosin to chromosome 17 in humans
Authors: Szabo P. , Clinton M. , Macera M. , Horecker B.L.
Published: May 2008

Parathymosin is a 101-amino acid polypeptide involved in the regulation of cellular immunity. In situ hybridization of rat parathymosin cDNA to human metaphase chromosomes localized the gene for human parathymosin to the q12→q22 region of chromosome 17.
Visualization of NORs in relation to the precise chromosomal localization of ribosomal RNA genes
Authors: Cheung S.W. , Sun L. , Featherstone T.
Published: May 2008

Use of prometaphase chromosome preparations has led to significant improvements in the localization of both NORs and ribosomal gene clusters in the short arms of human acrocentric chromosomes. An improvement of the NOR silver-staining method, followed by trypsin-Giemsa banding, was used to identify the precise location of the NOR on each human acrocentric chromosome. For comparison, the satellite, stalk, and centromeric region were also identified with the aid of both Q- and G-banding techniques. The amount of silver impregnation present in the stalk region of the D- and G-group chromosomes was unique for each of these acrocentric chromosomes and depended on the length of the stalk. In situ hybridization was used to locate the ribosomal gene clusters. A plasmid containing 5.6 kb of the 18S rDNA gene was first oligolabeled with bio-16-dUTP, then hybridized in situ to metaphase chromosomes and visualized by an alkaline phospha-tase color-detection system. Our results indicated that, in most cases, the location of the 18S rDNA gene cluster in the stalk region was indistinguishable from the site of silver impregnation. However, exceptions were noted, suggesting a multiplicity of arrangements of the ribosomal gene clusters. A model is proposed to describe the spatial relationship of NORs (transcriptional activity) and the ribosomal gene clusters.
An automated system for karyotyping mouse chromosomes
Authors: Piper J. , Breckon G.
Published: May 2008

A system developed for interactive automated analysis of human chromosomes has been modified for use with mouse cells. The system is described, with emphasis on those features that facilitate retraining for different preparations or even different species. Some performance figures are presented.
The α2 chain of type 1 collagen does not map to mouse chromosome 16 but maps close to the Met proto-oncogene on mouse chromosome 6
Authors: Irving N.G. , Hardy J.A. , Bahary N. , Friedman J.M. , Brown S.D.M.
Published: May 2008

The gene locus for the α2 chain of type 1 collagen (Cola-2) was previously assigned to chromosome 16. Here we demonstrate, utilising both somatic cell hybrid analysis and genetic linkage analysis, in an interspecific Mus domesticus × Mus spretus cross that Cola-2 fails to cosegregate with mouse chromosome 16, but is linked to the Met proto-oncogene on chromosome 6.
The DNA content of Chinese hamster meiotic metaphase chromosomes
Authors: Sumner A.T.
Published: May 2008

DNA values of Chinese hamster male meiotic metaphase chromosomes were measured by slide-based Feulgen cytometry. All the autosomes were distinguishable on the basis of their DNA content. No significant differences were found between the autosomes of the two male animals studied, but a significant difference was found in the DNA content of the sex-chromosome pair between these two animals.
Assignment of the human myeloperoxidase gene (MPO) to bands q21.3→q23 of chromosome 17
Authors: Inazawa J. , Inoue K. , Nishigaki H. , Tsuda S. , Taniwaki M. , Misawa S. , Abe T.
Published: May 2008

Using a human myeloperoxidase cDNA, we have mapped the human myeloperoxidase gene to chromosome 17 at q21.3→q23 by in situ hybridization to metaphase chromosomes from human lymphocyte preparations.
Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16
Authors: Natt E. , Magenis R.E. , Zimmer J. , Mansouri A. , Scherer G.
Published: May 2008

Using cDNA probes for the human uvomorulin (UVO) and rat chymotrypsinogen B (CTRB) genes, we have analyzed two overlapping interstitial deletions on human chromosome 16q by Southern blot analysis. One deletion, with breakpoints at 16q22.1 and 16q22.3, results in loss of the UVO locus The second deletion, whose breakpoints are at 16q22.1 and 16q23.2, leads to loss of the CTRB locus. Therefore, UVO resides between both proximal deletion breakpoints within band 16q22.1 whereas CTRB is located between both distal breakpoints at 16q22.3 and 16q23.2.
Mitotic deletions of 11p15.5 in two different tumors indicate that the CALCA locus is distal to the PTH locus
Authors: Henry I. , Grandjouan S. , Barichard F. , Huerre-Jeanpierre C. , Junien C.
Published: May 2008

We have compared the constitutional and tumor genotypes in two patients with Wilms tumor and adrenocortical carcinoma. The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT-APOAl) and an approach combining RFLP analysis and gene copy number determination showed that a mitotic deletion had occurred in both tumors. The loss of one copy of the gene for α-calcitonin-gene-related poly peptide (CALCA), together with that of a more distal marker (HRASl or HBB), indicates that CALCA is distal to the gene for parathyroid hormone (PTH), which was not deleted in either tumor. These results suggest that mitotic deletion mapping may be as useful as meiotic deletion or recombination mapping in ordering closely linked markers, such as CALCA and PTH, for which other approaches, including physical mapping and multipoint linkage analysis, have failed to accurately identify the gene order.
Mapping of the creatine kinase M gene to 19q11→q12 in the rabbit genome
Authors: Martin-DeLeon P.A. , McLaughlin J. , Mitzel E. , Tailor S.
Published: May 2008

The chromosomal localization of the gene for creatine kinase M has been determined to be on rabbit chromosome 19 at q11→q12 by in situ molecular hybridization. The results show significant cross-hybridization of the creatine kinase, muscle (CKMM) probe to the previously mapped creatine kinase, brain (CKBB) locus at 20q13→qter, and therefore provide independent support for the localization of CKBB at that site.
The mouse Cebp gene encoding a DNA-binding protein is polymorphic and is located on chromosome 7
Authors: Xanthopoulos K.G. , Mirkovitch J. , Friedman J.M. , Darnell, Jr. J.E.
Published: May 2008

The mouse gene Cebp, encoding the DNA-binding protein C/EBP, has been localized to the proximal region of chromosome 7 by determining the strain distribution patterns of a restriction fragment length polymorphism among the BXD and AKXL recombinant inbred mouse lines.
Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers
Authors: Raeymaekers P. , De Jonghe P. , Swerts L. , De Winter G. , Gheuens J. , Martin J.-J. , Vandenberghe A. , Van Broeckhoven C.
Published: May 2008

We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood group. We investigated the possibility of a disease locus on the short arm of chromosome 1 using 12 anonymous DNA markers. Two markers, D1S2 and D1S22, showed positive linkage, suggesting the existence of a CMT1 locus on 1p. D1S2 and D1S22 are clustered in the 1p31→p22 region. However, multipoint linkage analysis, including additional DNA markers from this chromosome region, excluded a possible CMT1 locus in this part of chromosome 1.
Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups
Authors: Daiger S.P. , Humphries M.M. , Giesenschlag N. , Sharp E. , McWilliam P. , Farrer J. , Bradley D. , Kenna P. , McConnell D.J. , Sparkes R.S. , Spence M.A. , Heckenlively J.R. , Humphries P.
Published: May 2008

As part of our ongoing linkage studies of degenerative retinal diseases, we tested seven DNA markers and two classical genetic markers from chromosome 4 in two extended families with autosomal dominant retinitis pigmentosa (ADRP). Our goals were (1) to detect or exclude linkage of ADRP to markers spanning most of chromosome 4 and (2) to contribute useful new information regarding the linkage map of this chromosome. Our results exclude linkage of ADRP from more than 82% of chro mosome 4. We detected four new linkage relationships: loose linkage of K082 (D4S10) and G1E5 (D4S21) at a distance of 21 cM; loose linkage of 4F2 (D4S18) and GC protein at a distance of 19 cM; tight linkage (i.e., no recombinants) between B3D (D4S44), B5A (D4S40), and the MNS blood group; and tight linkage between 4F2 and GDS5 (D4S23). These data, combined with previously reported data, exclude ADRP from approximately 35% of the human genome.
Genome comparison in the genus Mus: a study with B1, MIF (mouse interspersed fragment), centromeric, and Y-chromosomal repetitive sequences
Authors: Nishioka Y.
Published: May 2008

Using four repetitive sequences, we compared DNAs isolated from Mus caroli, M. cookii, M. hortulanus, M. musculus, M. pahari, M. saxicola, and M. spretus. Except for Bl, these probes showed species-specific hybridization patterns. Mouse interspersed fragment (MIF) sequences were present in all species examined, but those defined by the 1.3-kb EcoRl band were fewer in M. pahari and M. saxicola than in the other species. The Y-chromosomal probe showed male-specific accumulation only in M. hortulanus, M. musculus, and M. spretus, which are known to be closely related. The genetic difference between M. spretus and the other two species (M. hortulanus and M. musculus) was clearly demonstrated by a M. musuclus centromeric sequence that hybridized strongly to M. hortulanus and M. musculus DNA but was underrepresented in the genome of M. spretus. These results may suggest the usefulness of these repetitive sequences in the classification of Mus species that display only subtle morphological differences.
Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates
Authors: Schempp W. , Weber B. , Müller G.
Published: May 2008

In a representative sample of primate species, including simians (Catarrhini and Platyrrhini) and prosimians (Lemuriformes and Lorisiformes), high-resolution, early replication banding revealed a homoeologous early replicating segment at the ends of both sex chromosomes. The DXYZ2 element, a repeated sequence specific for the human pseudoautosomal region, is con served in the genomes of all primate species studied and is specifically localized in the distal early replicating segments of the X and Y chromosomes. Thus, cytogenetic and molecular evidence is presented of a highly conserved sex-chromosomal segment in primates. The pseudoautosomal behavior of this segment is discussed.
Human chromosome-specific DNA libraries: construction and purity analysis
Authors: Fuscoe J.C. , McNinch J.S. , Collins C.C. , Van Dilla M.A.
Published: May 2008

We report the construction of eight human chromosome-specific DNA libraries. Metaphase chromosomes were purified by flow-sorting, and the extracted DNA was cleaved with HindIII before cloning into λCharon 21 A. There is now a complete digest HindIII library containing greater than five chromosome equivalents for each human chromosome. These are available to the scientific community through the American Type Culture Collection in Rockville, MD. The amount of hamster DNA in libraries in which the chromosome was sorted from human × hamster hybrid cells was estimated by species-specific hybridization. It ranged from 5% to 39%. The sorted chromosomes were examined by fluorescence in situ hybridization with species-specific DNA, and the main source of the hamster DNA contamination was found to be intact hamster chromosomes. In addition, we examined a chromosome 21 library, LL21NS02, for clones that fail to grow on the rec+ host LE392. Less than 0.6% of the recombinant phage exhibited the rec+-inhibited phenotype.
Analysis of synaptonemal complexes in two fertile heterozygous boars, both carriers of a reciprocal translocation involving an acrocentric chromosome
Authors: Jaafar H. , Gabriel-Robez O. , Ratomponirina C. , Boscher J. , Bonneau M. , Popescu C.P. , Rumpler Y.
Published: May 2008

An electron microscopic study of synaptonemal complexes in two heterozygous fertile boars, one a carrier of a 4; 14 reciprocal translocation and the second a carrier of this translocation associated with a 3;7 reciprocal translocation, is reported. The results showed heterologous pairing in almost all quadrivalents, as well as a lack of XY-quadrivalent association. This seemed to be a common feature of translocations in pigs, even if at least one acrocentric chromosome is involved, and may represent a significant meiotic mechanism that prevents spermatocyte loss, while the production of genetically unbalanced gametes leads to loss of progeny through abortion.
Telomeric associations in a lymphoblastoid cell line from a patient with B-cell follicular lymphoma
Authors: Saltman D. , Ross F.M. , Fantes J.A. , Allshire R. , Turner G.E. , Evans H.J.
Published: May 2008

We have established a new Epstein-Barr virus transformed cell line from a patient with B-cell follicular lymphoma. Telomeric fusions were observed in several subclones, with the nonrandom involvement of chromosomes 1, 5, 12, and 17. Centromeric staining with immunofluorescent anti-kinetochore antibodies was positive in both centromeres of the fused chromosomes, suggesting they were both active. Unlike previously reported cases, we were unable to demonstrate telomeric fusions directly in cells from the patient’s blood. However, the finding of identical immunoglobulin gene rearrangements in DNA from the patient’s blood and cell line suggested that they originated from the same malignant B-cell clone.
Refined sublocalization of the human gene encoding the β subunit of the S100 protein (S100B) and confirmation of a subtle t(9;21) translocation using in situ hybridization
Authors: Duncan A.M.V. , Higgins J. , Dunn R.J. , Allore R. , Marks A.
Published: May 2008

The gene which encodes the β subunit of the S100 protein was mapped to 21q22.2→q22.3 by in situ hybridization. Concurrently, a subtle translocation involving this region of chromosome 21 and 9q34 was confirmed.
Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19
Authors: Mohrenweiser H.W. , Carrano A.V. , Fertitta A. , Perry B. , Thompson L.H. , Tucker J.D. , Weber C.A.
Published: May 2008

Three DNA repair genes, ERCC1, ERCC2, and by in situ hybridization using fluorescently-labeled cosmid probes. XRCC1 have been regionally mapped on human chromosome 19. ERCC1 and ERCC2 have been found to be separated by less than ERCC2 and XRCCl have been assigned to bands q13.2→q13.3 250 kb by large fragment restriction enzyme site mapping.
Synaptonemal complex study in some species of Gerbillidae without heterochromatin interposition
Authors: Ratomponirina C. , Viegas-Péquignot E. , Petter F. , Dutrillaux B. , Rumpler Y.
Published: May 2008

Synaptonemal complexes were studied in Gerbillus campestris, Meriones libycus, M. sham, M. crassus, and in two hybrids M. shawi × M. libycus (Gerbillidae, Rodentia). In both the pure species and hybrids, there was no pairing of X and Y chromosomes, as was previously observed in Psammomys obesus and other Gerbillidae species with gonosome-autosome translocations. A pair of autosomes was also located in proximity to the sex chromosomes in pachytene and showed unusual meiotic behavior with no, incomplete, or much delayed pairing. This chromosome pair, composed of late replicating heterochromatin, exists in most Gerbillidae species and is constant in number, but variable in size across the species. Both meiotic and mitotic characteristics indicate that this pair may correspond to a new type of chromosome which is different from B chromosomes. We do not know if there is a relationship between the presence of this chromosome and the unusual behavior of the sex chromosomes. In Gerbillidae species, the lack of pairing of both sex and heterochromatic chromosomes obviously does not prevent their correct meiotic segregation.
Regional assignment of nonspecific cross-reacting antigen (NCA) of the CEA gene family to chromosome 19 at band q13.2
Authors: Inazawa J. , Abe T. , Inoue K. , Misawa S. , Oikawa S. , Nakazato H. , Yoshida M.C.
Published: May 2008

Nonspecific cross-reacting antigen (NCA) is a member of the carcinoembryonic antigen (CEA) gene family. Recently, a DN A segment for part of the human NCA gene was isolated and sequenced. We mapped this gene by Southern blot analysis of hybrid cells and by in situ hybridization. The Southern blot analysis indicated that the NCA gene is on human chromosome 19 and the in situ hybridizations localized the gene to band 19ql3.2.
Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family
Authors: Mannens M. , Bleeker-Wagemakers E.M. , Bliek J. , Hoovers J. , Mandjes I. , van Tol S. , Frants R.R. , Heyting C. , Westerveld A. , Slater R.M.
Published: May 2008

In a large pedigree with autosomal dominant aniridia, we found close linkage between the aniridia locus AN2 and the markers catalase (CAT) (z = 7.27 at Θ = 0.00) and D11S151 (z = 3.86 at Θ = 0.10) flanking the AN2 locus on 11p 13. Positive lod scores were also obtained for the 11p13→11p14 markers D11S16 and FSHB with the linkage group CAT/AN2/D11S151. We conclude that the autosomal dominant aniridia in this family is due to a mutation at the AN2 locus on 11p 13. We have excluded linkage (z < –2 at Θ < 0.18) between the aniridia and the chromosome 2p25 marker D2S1 (linked to ACPI).
Spectrum of karyotypic aberrations in cultured human meningiomas
Authors: Westphal M. , Hänsel M. , Kunzmann R. , Hölzel F. , Herrmann H.-D.
Published: May 2008

Twenty-two unselected cases of meningioma were initiated in tissue culture on an extracellular matrix derived from bovine corneal endothelial cells. The cultures were available for karyotypic analysis at passages 1 to 5, representing cultivation periods of up to two months. Histologically, the meningiomas were meningiotheliomatous (16 cases), fibrous (1 case), angiothelioma-tous (1 case), microcystic (2 cases), and parenchymatous (2 cases). Two of the meningotheliomatous cases had histological signs of malignancy, another case showed increased signs of proliferation, and two cases were recurrences, one after a complete course of irradiation. In five cases no structural chromosome aberrations were found. Monosomy of chromosome 22 was found in six cases and was associated with other random aberrations. Clonal or random aberrations without monosomy 22 were present in 11 cases, including one case with trisomy 7 and another case with a stable translocation marker, t(4;7). In these latter two cases, EGF-receptor binding was not elevated, compared to other meningiomas. Our results illustrate that, in addition to the frequent involvement of chromosome 22, numerous other individual clonal karyotype aberrations exist in meningioma cell populations, reflecting the heterogeneity of biological and pathological findings.
Involvement of immunoglobulin heavy- and light-chain (χ) gene clusters in a human B-cell translocation, t(2;14)
Authors: Kennedy M.A. , Morris C.M. , Hollings P.E. , Fitzgerald P.H.
Published: May 2008

The breakpoints of a translocation, t(2;14)(p 11;q32), detected in an Epstein-Barr virus-transformed lymphoid B-cell line were mapped by Southern analysis, field-inversion gel electrophoresis, and in situ hybridisation. The translocation involved the immunoglobulin light-chain (χ) locus on chromosome 2 and the heavy-chain locus on chromosome 14. The breakpoint on chromosome 2 was between Vk and Cĸ, most likely within Jĸ. The chromosome 14 break was located within the VH cluster, no more than 220 kb 5’ of the productively rearranged JH locus. The translocation probably resulted from an aberrant rearrangement of the χ light-chain genes.
Meiotic behavior of gonosomically variant females of Akodon azarae (Rodentia, Cricetidae)
Authors: Solari A.J. , Espinosa M.B. , Vitullo A.D. , Merani M.S.
Published: May 2008

The meiotic behavior of sex chromosomes has been investigated in variant females of Akodon azarae, both in pachytene oocytes and metaphase I. In somatic cells, these females have a heteromorphic sex pair, in which the minor chromosome has been previously interpreted as a major deletion of the long arm of the X chromosome (dX). After microspreading for synaptonemal complex analysis, pachytene oocytes show two axes of very different lengths (100:17.1), which correspond to the sex chromosomes X and dX. True synapsis is abnormally restricted (43.3%) between these sex chromosomes; on the other hand, self-synapsis of both the X and dX chromosomes is frequent (60%). Single, nonsynapsed axes or axial segments are thickened. Strong chromatin condensation occurs around nonsynapsed axes or axial segments, giving many of these sex pairs an appearance similar to an XY body (“sex vesicle”). The minor gonosome axis differs from that of the Y chromosome of male meiosis, as the former is shorter (relative to the X) and has a different synaptic behavior. In 17 metaphases I from XdX variant females, only heteromorphic, end-to-end joined sex pairs were observed. These variant females differ from the variant females of the wood lemming Myopus schisticolor in several respects, but a similar mechanism seems to be prevalent in other species of the genus Akodon. Self-synapsis of unequal gonosomes in oocytes is assumed as an escape from functional deterioration, following the hypothesis put forward by others.
Multiple sex-chromosome system in a loach fish
Authors: Saitoh K.
Published: May 2008

This study shows an X1XιX2X2/X1X2Y type of multiple sex-chromosome system in the genus Cobitis (Pisces, Ostariophysi). Observation of C-banded male meioses revealed that one arm of the neo-Y always associates end-to-end with one of the X chromosomes. This finding implies that a mechanism might be present that has prevented crossing-over between the ancestral X and Y chromosomes without morphological differentiation. This is the first reported case of multiple sex chromosomes among cyprinoid fish.
Localization of two alkaline phosphatase genes to the proximal region of mouse Chromosome 1
Authors: Schurr E. , Henthorn P.S. , Harris H. , Skamene E. , Gros P.
Published: May 2008

Using a human cDNA clone encoding the intestinal form of alkaline phosphatase, we have identified and mapped by RFLP analysis in a Mus spretus × C57BL/6J interspecies back-cross two alkaline phosphatase genes which segregate independently on the proximal part of mouse Chromosome 1. The gene order and intergene distances were determined by standard back-cross analysis as: centromere- Len-2 – 19.0 cM – Akp-3 – 20.0 cM – Akp-4 – 2.0 cM – Ren-1.
Chromosomal localization to 3q21→qter and two TaqI RFLPs of the human prostate-specific acid phosphatase gene (ACPP)
Authors: Winqvist R. , Virkkunen P. , Grzeschik K.-H. , Vihko P.
Published: May 2008

The chromosomal location of the gene encoding human prostate-specific acid phosphatase (ACPP) was determined by Southern blotting analysis of panels of human × rodent (mouse or Chinese hamster) somatic cell hybrids, using the PAP-1007 and PAP-1004EP ACPP cDNA probes. The ACPP gene was assigned to chromosome 3, which was confirmed by screening a chromosome 3-specific genomic library. Sublocalization of this gene was carried out using hybrids that had retained only various portions of human chromosome 3. The ACPP gene was found to segregate specifically with the chromosomal segment 3q21→qter. Analysis of Southern blots of Taq I-digested DNAs from unrelated individuals and members of large families from northern Finland revealed two simultaneous diallelic restriction fragment length polymorphisms (RFLPs), A and B, when using either PAP-1004EP or PAP-1006A ACPP cDNA probes, but not the 5’ flanking PAP-1007 probe. Allele frequencies for polymorphism A were .09 (A1) and .91 (A2), and for polymorphism B, .38 (B1) and .62 (B2). There appears to be only a very minor linkage disequilibrium (χ2 = 1.12, 0.35 > P > 0.25) between the two Taql RFLPs at the ACPP locus. For reasons presently unknown, homozygotes for polymorphism B appear to be overrepresented. These polymorphisms could be of importance in characterizing human prostate cancer.
Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4
Authors: Kato A. , Asakai R. , Davie E.W. , Aoki N.
Published: May 2008

Chromosomal localization of the gene for human coagulation factor XI (F11) was determined by in situ hybridization using a genomic DNA probe which contained exons VIII, IX, and X of the gene. The results indicate that the gene is located at 4q35.
Sister chromatid exchanges in the human active and inactive X chromosomes
Authors: Zhang A. , Lin M.S. , Wilson M.G. , Fujimoto A.
Published: May 2008

Four human female fibroblast strains with an i(Xq) or derivative X chromosome as a cytological marker for the inactive X chromosome were used to determine the frequency of sister chromatid exchanges (SCEs) in the active and inactive X chromosomes. No significant difference in SCE frequency between the active and inactive X chromosomes was observed. Therefore, the state of chromatin condensation and the late DNA replication in the facultative heterochromatin of the inactive X chromosome do not appear to influence the SCE frequency.
The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2
Authors: Fan Y.-S. , Eddy R.L. , Byers M.G. , Haley L.L. , Henry W.M. , Nowak N.J. , Shows T.B.
Published: May 2008

The gene for the human mineralocorticoid receptor (MLR) was previously localized to chromosome 4. Here, we have localized this gene to 4q31.2 by in situ hybridization. This precise mapping of MLR will assist in the linkage analysis and genetic characterization of pseudohypoaldosteronism, an autosomal recessive disorder which likely results from a defect in the MLR gene.
Regional localization of the gene encoding pregnancy specific beta-1-glycoprotein 1 (PSBG1) to human chromosome 19q13.1
Authors: Niemann S.C. , Schonk D. , van Dijk P. , Wieringa B. , Grzeschik K.-H. , Bartels I.
Published: May 2008

Pregnancy specific beta-1-glycoprotein (PSBG), a major product of the human placenta, is encoded by multiple genes. Southern blot hybridization of human × rodent somatic cell hybrid DNAs with a cDNA specific for one member of the PSBG gene family allowed us to map this gene to human chromosome 19. Further analysis using hybrids with subchromosomal segments of 19q revealed that the gene maps to the distal segment of region 19q 13.1.
Assignment of human pepsinogen C (PGC) gene to chromosome 6
Authors: Takahara K. , Fukushige S. , Murotsu T. , Ichihara Y. , Hayano T. , Ishihara T. , Takahashi K. , Matsubara K.
Published: May 2008

cDNA of rat pepsinogen C (PGC) hybridizes to, among others, a 3.2-kb band in Southern blot analysis of BamHI-cleaved human genomic DNA. This property was employed to localize the human PGC gene. Use of flow-sorted human chromosomes and 12 human × mouse somatic cell hybrid lines demonstrated that the gene is located on chromosome 6.
Trivalent behavior during prophase I in male mice heterozygous for three Robertsonian translocations: an electron-microscopic study
Authors: Grao P. , Coll M.D. , Ponsà M. , Egozcue J.
Published: May 2008

A synaptonemal complex (SC) analysis was carried out in male mice heterozygous (CHT/ + ) for three Robertsonian translocations. All pachytene preparations studied showed the presence of three trivalents. At early pachytene, the nonhomologous centromeric regions of the acrocentric chromosomes were unpaired. Heterosynapsis subsequently took place with complete pairing of the trivalents. Association between one of the three trivalents and the sex vesicle was observed in 30.4% of the nuclei. Association between the unpaired regions of two trivalents was present in 14.4% of the cells, suggesting that the relationship between unpaired regions ofstructural rearrangements and the X-Y bivalent may simply reflect the tendency of unpaired regions to establish end-to-end associations or heterosynapses among them, which are usually resolved during the pachytene stage of prophase I. Since the sex bivalent always has unpaired regions, these associations often affect the sex chromosomes.
Meiosis in trisomic female mice with Robertsonian translocations
Authors: Crolla J.A. , Polani P.E.
Published: May 2008

First and second meiotic metaphases (MI and MII, respectively) from female mice of Robertsonian translocation (Rb) stock, trisomic for chromosome 16 (Ts16) or 19 (Ts19), were studied. The mature trisomic oocytes were derived from explanted fetal ovaries that had been cultured and then transplanted so as to mature heterotopically. Multivalent configurations involving the Rb chromosomes and the additional trisomic acrocentric were analysed. Pentavalent configurations occurred in 74.5% of 98 Ts16 MI and 44.2% of 249 Ts19 MI oocytes; quadrivalents (with a univalent acrocentric) were found in 9.2% of Ts16 MI and 10.8% of Ts19 MI oocytes. In 1% of Ts16 MI and 4% of Ts19 MI oocytes, there were two Rb bivalents and a univalent trisomic acrocentric. Rb trivalents and Rb bivalents occurred together in 14.3% of Ts16 MI and 39.4% of Ts19 MI oocytes. Chiasma frequencies were similar in trisomic and chromosomally balanced MI. Chiasma position, distribution, and localization were nearly identical, whether they were found in Rb multivalents or acrocentric bivalents, but one control group (from chromosomally balanced Ts19 litter-mates) had significantly more terminal chiasmata. Within the triple homologous region of 8% of Rb pentavalents, two chiasmata were observed in the same relative position in the two sister chromatids of one of the three homologs, suggesting a lapse in chiasma position interference. Assortment at MI anaphase was influenced by secondary nondisjunction of the Rb. The ratio of balanced to unbalanced MII oocytes was 1:4 in both trisomies.