bluuebunny/crossref_metadata_2025 huggingface dataset:
Localization of the acetylcholine receptor γ subunit gene to human chromosome 2q32→qter
Authors: Cohen-Haguenauer O. , Barton P.J.R. , Buonanno A. , Van Cong Nguyen , Masset M. , de Tand M.F. , Merlie J. , Frézal J.
Published: May 2008

The nicotinic acetylcholine receptor of skeletal muscle (CHRN in man, Acr in mouse) is a transmembrane protein composed of four different subunits (α, β, γ, and δ) assembled into the pentamer α2βγδ. These subunits are encoded by separate genes which derive from a common ancestral gene by duplication. We have used a murine full-length 1,900-bp-long cDNA encoding the γ subunit subcloned into M13 (clone γ18) to prepare single-stranded probes for hybridization to EcoRI-digested DNA from a panel of human × rodent somatic cell hybrids. Using conditions of low stringency to favor cross-species hybridization, and prehybridization with rodent DNA to prevent rodent background, we detected a single major human band of 30–40 kb. The pattern of segregation of this 30–40 kb band correlated with the segregation of human chromosome 2 within the panel and the presence of a chromosomal translocation in the distal part of the long arm of this t(X;2)(p22;q32.1) chromosome allowing the localization of the γ subunit gene (CHRNG) to 2q32→qter. The human genes encoding the γ and δ subunits have been shown to be contained in an EcoRl restriction fragment of approximately 20 kb (Shibahara et al., 1985). Consequently, this study also maps the δ subunit gene (CHRND) to human chromosome 2q32.1→qter. In the mouse, the Acrd and Acrg genes have been shown to be linked to Idh-1, Mylf(lDHI and MYL1 in humans, respectively) and to the gene encoding villin on chromosome 1. Interestingly, we have recently localized the human MYL1 gene to the same chromosomal fragment of human chromosome 2. These results clearly demonstrate a region of chromosomal homoeology between mouse chromosome 1 and human chromosome 2.
Closely linked loci on the long arm of chromosome 13 flank a specific 2;13 translocation breakpoint in childhood rhabdomyosarcoma
Authors: Valentine M. , Douglass E.C. , Look A.T.
Published: May 2008

A specific chromosomal translocation, t(2;13)(q35;q14), is present in tumor cells from about one-half of children with alveolar rhabdomyosarcoma, who generally have widely disseminated disease at diagnosis. Using a series of six DN A probes from five loci previously assigned to bands 13q12→q14, we have localized the translocation breakpoint on chromosome 13 by in situ hybridization. Each probe was used to examine metaphase spreads from two or more rhabdomyosarcoma cell lines that have the t(2;13), as well as from control lymphoblastoid cell metaphases. All six probes bound to chromosome 13q12→q14 in the control cell line, but showed no appreciable hybridization to other sites. With rhabdomyosarcoma metaphases, cDNA clones of the retinoblastoma susceptibility gene (RB1) and the esterase D gene (ESD), as well as the arbitrary genomic fragment 7D2 (DBS 10), showed specific hybridization to the normal chromosome 13 and the der(2) marker, but not to the der(13). By contrast, the genomic fragments HU10 (D13S6) and 7F12 (D13S1) hybridized specifically to the normal chromosome 13 and the der(13), but not to the der(2). Thus, the breakpoint of this translocation lies distal to D13S6 and D13S1 and proximal to ESD, RB1 and D13S10. Our data indicate that the locus affected by the translocation breakpoint on chromosome 13, which we have termed RMS, is physically distinct from the RB1 locus and is, in fact, proximal to ESD, which others have placed at least 106 bp proximal to RB1. The consistent presence of the der(2) marker chromosome, coupled with occasional loss of the der(13), suggests that the RMS gene, or at least a critical component, moves to chromosome 2 in tumors with this translocation.
Trisomy 7 and sex chromosome loss in human brain tissue
Authors: Heim S. , Mandahl N. , Jin Y. , Strömblad S. , Lindström E. , Salford L.G. , Mitelman F.
Published: May 2008

Short-term cultures of nonneoplastic brain tissue from 11 patients, seven of whom had a malignant brain tumor, were cytogenetically examined. In only a single case was a wholly normal chromosome complement detected; the remaining ten cases exhibited mosaicism with clonal numerical aberrations found alongside cells carrying a normal karyotype. The abnormal clones were characterized by trisomy 7, the loss of the Y chromosome in men and an X chromosome in women, or by combinations thereof. No structural aberrations were present. Our findings demonstrate that although –Y, –X, and +7 have in the past repeatedly been associated with brain tumors, these changes presumably reflect normal in vivo organ mosaicism and, thus, should not be accepted as neoplasia-specific in this context.
Chromosome banding and DNA replication patterns in bird karyotypes
Authors: Schmid M. , Enderle E. , Schindler D. , Schempp W.
Published: May 2008

The karyotypes of the domestic chicken (Gallus domesticus), Japanese quail (Coturnix coturnix), and griffon vulture (Gyps fulvus) were studied with a variety of banding techniques. The DNA replication patterns of bird chromosomes, analyzed by incorporation of 5-bromodeoxyuridine (BrdU) and de-oxythymidine (dT), are presented here for the first time. In particular, the time sequence of replication of the ZZ/ZW sex chromosomes throughout the S-phase was meticulously analyzed. BrdU and dT incorporation are very useful methods to identify homoeologies between karyotypes, as well as rearrangements that occurred in the macroautosomes during speciation. The Z chromosomes of the three birds displayed the same replication patterns, indicating a high degree of evolutionary conservation. In the homogametic male, BrdU and dT incorporation revealed no evidence of asynchronous replication between euchromatic bands in the ZZ pair. The same was true of the three Z chromosomes in a triploid-diploid chimeric chicken embryo. Minor replication asynchronies between the homologous ZZ or ZZZ chromosomes were restricted to heterochromatic C-bands. These results confirm that, in the ZZ♂/ZW♀ sex-determining system of birds, dosage compensation for Z-linked genes does not occur by inactivation of one of the two Z chromosomes in the homogametic male. The heterochromatic W chromosomes of the three species showed bright labeling with distamycin A/mithramycin counterstain-enhanced fluorescence and exhibited significantly delayed DNA replication. The nucleolus organizers of birds, frequently located in microchromosomes, were also distinguished by bright distamycin A/mithramycin fluorescence.
The sex-determining zinc finger sequences in XY females of Akodon azarae (Rodentia, Cricetidae)
Authors: Bianchi N.O. , de la Chapelle A. , Vidal-Rioja L. , Merani S.
Published: May 2008

Wild populations of Akodon azarae comprise females with a karyotype indistinguishable from that of males. These individuals were formerly assumed to be Xx, the x being an X chromosome with a deletion of most of its long arm. By using a DNA probe derived from the testis-determining region of the human Y chromosome (comprising a candidate gene for the testis-determining factor, Y-linked zinc finger [ZFY]), we demonstrate that A.azarae gonosomally variant females are XY and not Xx. The ZFY sequences in A. azarae are amplified and located in two different families of EcoRl fragments derived from Y-chromosome DNA. No rearrangement or change in the state of methylation of ZFY or ZFX (X-linked zinc finger) sequences were found in XY females. We propose that sex reversal in A. azarae may be mediated by a gene or genes other than ZFX or ZFY.
The human endonexin II (ENX2) gene is located at 4q28→q32
Authors: Modi W.S. , Seuànez H.N. , Jaye M. , Haigler H.J. , Kaplan R. , O’Brien S.J.
Published: May 2008

A relatively recently identified family of structurally similar Ca2+-dependent phospholipid binding proteins is called the annexin gene family. At least seven genes are known, although their exact functions are unclear. The endonexin II gene (ENX2), one member of the gene family, is assigned to 4q28→q32 using both Southern transfer analysis of human × rodent somatic cell hybrid DNAs and in situ chromosome hybridization. One of the lipocortin II genes, another annexin, had previously been assigned to the long arm of chromosome 4.
Nocodazole sensitivity, age-related aneuploidy, and alterations in the cell cycle during maturation of mouse oocytes
Authors: Eichenlaub-Ritter U. , Boll I.
Published: May 2008

To detect age-related alterations in the formation and function of the spindle apparatus, we examined in vitro maturing oocytes obtained from young (2–4 mo) and aged (> 9 mo) diestrous CBA/Ca mice. Observation of cells processed for antitubulin immunofluorescence revealed that oocytes from aged females progress faster through first maturation division than those from young animals. They are also more prone to nondisjunction, as shown by a significantly higher level of aneuploidy in C-banded cells arrested at metaphase II. The ability of oocytes to recover from treatment with a microtubule inhibitor, nocodazole, and the effect of the drug on spindle integrity and chromosome segregation were also studied. In both age groups, treatment of metaphase I oocytes with 10 µM nocodazole caused rapid and complete microtubule depolymerization and chromosome scattering. Upon recovery, oocytes from both age groups were able to reestablish a spindle apparatus, proceed through anaphase, and extrude a first polar body. However, nocodazole treatment led to a dramatic increase of aneuploidy. Unexpectedly, the relative rise in hyperploids was greater in oocytes from young mice than in those from aged mice, so that the absolute percentage of hyperploid metaphase II cells was similar in both age groups after drug treatment. Concomitantly, nocodazole exposure abolished or, at least, diminished intrinsic differences in the cell cycle and anaphase trigger present in the controls (e.g., the earlier onset of chromosome separation in oocytes from aged females). It shortened the period available for spindle formation before chromosome segregation in all oocytes. Therefore, our study implies that temporal differences in the progression of oocytes through maturation, in particular, the shortening of the time available for alignment of bivalents before chromosome separation occurs in oocytes of old females, are mainly responsible for age-related rises in aneuploidy. There is no indication that (1) the spindle apparatus of oocytes from aged mammals is more labile or susceptible to disturbances than the spindle apparatus of oocytes from young individuals or that (2) an increase in the number of univalents makes oocytes from aged mammals particularly prone to nondisjunction.
Sigje, a member of the small inducible gene family that includes platelet factor 4 and melanoma growth stimulatory activity, is on mouse Chromosome 11
Authors: Smith A. , Lalley P.A. , Killary A.M. , Ghosh-Choudhury G. , Wang L.-M. , Han E.S. , Martinez L. , Naylor S.L. , Sakaguchi A.Y.
Published: May 2008

Stiles and coworkers originally identified a gene they termed JE that is transcriptionally activated in mouse fibroblasts early after treatment with platelet derived growth factor or serum. This gene, now named Sigje, can encode a 148-amino acid secreted, basic polypeptide that belongs to the small inducible gene (SIG) family whose members include, for example, platelet factor 4, melanoma growth stimulatory activity (Mgsa), and interferon inducible protein 10. SIG family members share a conserved array of cysteine and proline residues and a similar predicted secondary structure, and may have evolved from a common ancestral gene. Several members of the SIG family have been assigned to the proximal long arm of human chromosome 4, to a region that has genetic homoeology with a portion of mouse Chromosome 5. We report here that mouse Sigje, in contrast to Mgsa, is on Chromosome 11. Sigje restriction fragment length polymorphisms in Mus spretus DNA were identified with the enzymes TaqI, MspI, BelI, and Xbal, and will be useful in mapping by meiotic recombination.
Localization of the PRR1 gene coding for rat prostatic proline-rich polypeptides to chromosome 10 by in situ hybridization
Authors: Zhang J. , Hemschoote K. , Peeters B. , De Clercq N. , Rombauts W. , Cassiman J.J.
Published: May 2008

The gene coding for rat ventral prostatic proline-rich polypeptides (PRRl) was mapped to chromosome region . 10q26→q31 by in situ hybridization. The high percentage (40%) of specific hybridization signal obtained is probably the result of the highly repetitive structure of the PRRl gene
Chromosome mapping of the human RAS-related RAP1A, RAP1B, and RAP2 genes to chromosomes 1p12→p13, 12q14, and 13q34, respectively
Authors: Rousseau-Merck M.F. , Pizon V. , Tavitian A. , Berger R.
Published: May 2008

Three human cDNAs encoding new RAS-related cDNAs, designated RAP1A, RAP1B, and RAP2, have been isolated previously. The encoded proteins are highly related to RAS in the effector region and share an overall identity with RAS of approximately 50%. Using the complete cDNAs or parts there of as probes, each RAP gene has been localized on human chromosomes by in situ hybridization. The three genes RAP1A, RAPIB, and RAP2 have been ssigned to chromosome bands 1p12→p13, 12q14, and 13q34, respectively.
Genetic variation and origin of the most chromosomally polymorphic natural mammalian population
Authors: Kerridge D.C. , Baker R.J.
Published: May 2008

Examination of allozymic variation in a chromosomally highly polymorphic population of Oryzomys documented that the sample consisted of two species, one that was chromosomally monomorphic and the other containing nine centric fusion polymorphisms. The existence of allozymic variation indicates that it is highly improbable that the polymorphic sample was the result of hybridization. These centric fusion polymorphisms appeared to cause little or no negative selection.
Common fragile sites in man and three closely related primate species
Authors: Smeets D.F.C.M. , van de Klundert F.A.J.M.
Published: May 2008

The expression of common fragile sites was studied in peripheral lymphocytes of man, gorilla, chimpanzee, and orangutan after induction with aphidicolin, methotrexate, or fluorodeoxyuridine. As far as the chromosomal localization is concerned, it appears that many of these sites have been highly conserved during primate evolution. However, differences were found in the relative expression of certain sites. In all four species, mapping of approximately 500 lesions disclosed the most breakage-prone common fragile sites, at which about 90% of all induced aberrations were localized. Comparison of chromosome regions involved in evolutionary changes to fragile sites in the four primate species revealed 30 sites that were located at or close to the same chromosomal band. However, no correlation was found between the relative expression of a certain common fragile site in vitro and a potential involvement of this chromosomal site in evolutionary changes.
Pachytene pairing and sperm counts in mice with single Robertsonian translocations and monobrachial compounds
Authors: Mahadevaiah S.K. , Setterfield L.A. , Mittwoch U.
Published: May 2008

Data on testis weights, sperm counts, and synaptonemal complexes are presented for mice carrying the following Robertsonian translocations: Rb(6.15)lAld; Rb(4.6)2Bnr; Rb(4.15)4Rma; Rb(6.15)lAld/Rb(4.6))2Bnr, which is male-sterile; and Rb(6.15)1Ald/Rb(4.15)4Rma, which is male-fertile. In Rbl Ald/Rb2Bnr sperm were absent or sparse, whereas the sperm count in Rbl Ald/Rb4Rma was just over 50% of the parental value. The translocated chromosomes appeared as fully paired bivalents in homozygotes, as trivalents in single heterozygotes, and as quadrivalents in compounds. About 20–40% of trivalents had unsynapsed ends. The proportion of quadrivalents with unsynapsed ends was about 85% in the male-sterile compound, compared with 75% in the male-fertile compound. The proportion of quadrivalents associated with XY was about 70% in both. Testis weights, but not sperm counts, were found to differ in two of three reciprocal crosses. It is concluded that, in addition to pairing failure and autosome/XY association, the effect of translocations on spermatogenesis is affected by other factors, including genetic background, inbreeding, and perhaps environmental factors. It remains to be elucidated whether pairing failure and XY association are primary or secondary effects.
In vitro transformation by the SV40 ‘early region’ of cells from a human benign salivary gland tumor with a12q13→q15 rearrangement
Authors: Kazmierczak B. , Bartnitzke S. , Hartl M. , Bullerdiek J.
Published: May 2008

Cells from a salivary gland pleomorphic adenoma with a reciprocal translocation, t(8; 12)(q22;q 14), were transformed by transfection with a plasmid containing the SV40 “early region.” Compared with nontransformed adenoma cells, the cells expressed large-T antigen, had a higher proliferative capacity, showed a drastically increased or even unlimited growth potential in vitro, and formed colonies in soft agar. The amount of cellular material produced in this way should make possible many experiments at the molecular level that could not be performed before.
Loss of heterozygosity on 17p in human breast carcinomas: defining the smallest common region of deletion
Authors: Devilee P. , Cornelisse C.J. , Kuipers-Dijkshoorn N , Jonker C. , Pearson P.L.
Published: May 2008

The marker D17S5, mapping to the short arm of chromosome 17, was recently reported by us and others to undergo frequent heterozygous deletion in human primary breast carcinomas, implicating the presence of a tumor suppressor gene in this region. To narrow down the location of this gene more precisely, we have performed a deletion-mapping study in an extended series of 78 breast carcinomas, using nine polymorphic markers for the short arm and two polymorphic markers for the long arm of chromosome 17. Partial allele losses on 17p were observed in nine cases, which, taken together, suggest that the target gene for the deletions maps to the region extending between the markers D17S5 (17p13.3) and D17S67 (17p12).
Gene for parathyroid hormone-like peptide is on mouse chromosome 6
Authors: Hendy G.N. , Sakaguchi A.Y. , Lalley P.A. , Martinez L. , Yasuda T. , Banville D. , Goltzman D.
Published: May 2008

The single-copy parathyroid hormone-like peptide gene (Pthlh) was assigned to mouse chromosome 6 using a rat PTHLH cDNA as hybridization probe in Southern blot analysis of DNAs isolated from a panel of mouse × Chinese hamster cell hybrids. The mouse parathyroid hormone gene (Pth) has previously been assigned to mouse chromosome 7 and the PTHLH nd PTH genes have also been shown to be on different chromosomes in human and rat. Therefore, despite significant amino-terminal sequence homology between the PTHLH and PTH peptides, as well as similarities in the structural organization of the human PTHLH and PTH genes, the genes encoding these peptides have discrete chromosomal locations in the mouse, rat, and man.
Regional assignment of the mouse αA2-crystallin gene (Crya-1) to chromosome 17A3→B by in situ hybridization
Authors: Kaye N.W. , Lalley P.A. , Petrash J.M. , Church R.L.
Published: May 2008

Previously, we assigned the αA2-crystallin (Crya-1) structural gene to mouse chromosome 17 via Southern blot hybridization analysis of mouse × Chinese hamster somatic cell hybrids. Using in situ hybridization, we have now localized this gene to 17A3→B, a subchromosomal region containing several genes whose linkage relationships have been shown to be conserved on human chromosome 6. In man, however, the homologous gene (CRYA1) is located on human chromosome 21, indicating that internal rearrangements can occur within highly conserved chromosomal regions during the divergence of man and mouse.
Distribution of chromosomal polymorphisms in three subspecies of squirrel monkeys (genus Saimivi)
Authors: Moore C.M. , Harris C.P. , Abee C.R.
Published: May 2008

The presence of nucleolar organizer regions (NORs) and C-band polymorphisms has been examined in three subspecies of squirrel monkeys, Saimiri sciureus sciureus, S. boliviensis boliviensis, and 5. boliviensis peruviensis. Pericentric inversions in chromosomes 15 and 16 were also examined in the three groups. Chromosome 15 was acrocentric in S. s. sciureus and sub-metacentric in S. b. boliviensis and S. b. peruviensis. Chromosome 16 was acrocentric in S. s. sciureus and S. b. boliviensis while being submetacentric in S. b. peruviensis. There was a significant difference in the distribution of the C-band polymorphisms on chro mosomes 5 and 14 in the three groups, as determined by Chi-square analysis, while no difference was observed in the distribution of the NOR polymorphism on chromosome 2. The NOR polymorphism and the interstitial C-band polymorphism of chromosome 14 were found in all three groups; the C-band polymorphism of chromosome 5 was found only in S. s. sciureus. Twelve pedigreed families were examined. Pedigree analyses were consistent with codominant inheritance of each polymorphism. The results of these cytogenetic studies in squirrel monkeys are pertinent to genetic management and research protocols.
Structure and chromosomal mapping of a highly polymorphic repetitive DNA sequence from the pseudoautosomal region of the mouse sex chromosomes
Authors: Harbers K. , Francke U. , Soriano P. , Jaenisch R. , Müller U.
Published: May 2008

The pseudoautosomal region of the Mov15 mouse strain is marked by a Moloney murine leukemia provirus. The sequences flanking the Mov15 provirus were molecularly cloned and shown to consist of a tandemly repeated sequence of 31 nucleotides. Copy number variation of this repeat most likely accounts for the polymorphism in the mouse pseudoautosomal region detected with a probe from the flanking sequences. In situ hybridization to metaphase chromosomes showed heavy labeling of the pairing region of the X and Y chromosomes. The repetitive sequence was also found at the subtelomeric region of three autosomes. A similar level of amplification as the one seen on the sex chromosomes seems to be present on chromosomes 9 and 13. Lower copy numbers appear to be present on chromosome 4.
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization
Authors: Kievits T. , Dauwerse J.G. , Wiegant J. , Devilee P. , Breuning M.H. , Cornelisse G.J. , van Ommen G.-J.B. , Pearson P.L.
Published: May 2008

A rapid method for localizing large numbers of complete cosmids by nonradioactive in situ hybridization is described. The cosmids are nick translated in the presence of biotin-16-dUTP, incubated with an excess of sonicated human DNA, and used as a probe for in situ hybridization. Sites of hybridization are detected by successive treatments with FITC-labeled avidin and biotinylated anti-avidin antibody. Fifty-two cosmids were localized on chromosome 16 in 5 d relative to translocation breakpoints contained in two cell lines. Rapid identification of chromosome 16 was achieved by cohybridization with a chromosome 16-specific centromeric repeat probe.
Chromosome regional mapping for the human thyroid stimulating hormone β subunit (TSHB) gene
Authors: Tokino T. , Hayashizaki Y. , Takata K.-I. , Yoshida M.C. , Matsubara K.
Published: May 2008

The human thyroid stimulating hormone β subunit (TSHB) gene, located on chromosome 1, was studied to determine its subregional location by in situ hybridization and Southern blot analysis of human × mouse hybrid cells. The results allowed localization of TSHB to the proximal portion of lp22, which is in the region of localization of the linkage group including amylase (AMY), nerve growth factor β subunit (NGFB), and NRAS, which are conserved in humans and rodents.
Pachytene pairing and oocyte numbers in mice with two single Robertsonian translocations and the male-sterile compound with monobrachial homology
Authors: Mittwoch U. , Mahadevaiah S.K. , Setterfield L.A.
Published: May 2008

Oocyte numbers and synaptonemal complexes were studied in two Robertsonian translocations, Rb(6.15)1Ald and Rb(4.6)2Bnr, and their male-sterile compound. Oocyte numbers in the compound were lower than those of either parent, and there was a marked difference between reciprocal crosses. Synaptonemal complexes of homozygous females appeared as 19 bivalents, those of single heterozygotes as 18 bivalents and a trivalent, and those of compound heterozygotes as 17 bivalents and a quadrivalent. Most trivalents were fully paired, whereas the majority of quadrivalents exhibited terminal asynapsis. About one-half of all oocytes had other pairing abnormalities, probably reflecting reduced survivability. Whereas all fully paired quadrivalents were present in cells not showing any pairing anomalies, one-half of the quadrivalents with terminal asynapsis were seen in oocytes with other anomalies. It is suggested that in oocytes destined for atresia, there is a predisposition to synaptic failure of translocation configurations. Additional oocytes are likely to break down because of the deleterious effect of the compound translocation on gametogenesis. This effect seems to be more pronounced in RblAld/Rb2Bnr spermatocytes than in oocytes.
Cytogenet Genome Res of bisexual/unisexual species of Poecilia
Authors: Sola L. , Monaco P.J. , Rasch E.M.
Published: May 2008

Three populations of the North American cyprinodont fish Poecilia latipinna, considered to be one of the progenitor species of the gynogenetic unisexual P.formosa, were analyzed by C-banding and Ag-staining. C-bands were found to be polymorphic, and Ag-staining showed a high degree of variability in both the number and location of nucleolus organizer regions. The C-banding and Ag-staining patterns allow, to a certain extent, to distinguish individual specimens from each of these populations. Females of the three populations were found to have a heteromorphic chromosome pair, which was frequently identifiable with Giemsa staining and always after C-banding. This pair could be interpreted as sex chromosomes of the ZW/ZZ type.
Assignment of the rat genes coding for phenylalanine hydroxylase (PAH), tyrosine aminotransferase (TAT), and pyruvate kinase (PKL) to chromosomes 7,19, and 2, respectively
Authors: Fulchignoni-Lataud M.C , Weiss M.C. , Szpirer C. , Levan G.
Published: May 2008

A panel of hybrid clones segregating rat chromo somes in a mouse background was used to determine the chromo somal localization of three genes specifically expressed in hepato cytes. The phenylalanine hydroxylase, tyrosine aminotransferase, and pyruvate kinase genes were assigned to rat chromosomes 7, 19, and 2, respectively.
Axial shortening during pachynema unrelated to nonhomologous synapsis
Authors: Ashley T.
Published: May 2008

The pachytene behavior of chromosomes participating in quadrivalent formation in male mice heterozygous for T(X;4)7R1 or T(X;4)8R1 was analyzed in electron micrographs of microspread spermatocytes. In each population of nuclei from the translocation heterozygotes, the longest 4X axes were approximately the proportional length expected from the respective contributions of the 4 and the X estimated from breakpoint positions in mitotic chromosomes. However, the 4X axis of these translocation quadrivalents undergoes extensive shortening. In both R7 and R8 the shortest 4X axis observed in the population of nuclei was approximately the length of the normal 4 axis. This equalization of axial lengths suggests that there may be an inter-chromosomal interaction between synapsed chromosomes. In R8, axial shortening of the 4X occurs as pachynema progresses. In both translocations, shortening is accompanied by twisting of the 4X around the 4. Both axial shortening and twists are characteristics exhibited by chromosomal axes of unequal length as part of the meiotic phenomenon described as “synaptic adjustment” (Moses, 1977). Synaptic adjustment involves, in addition, non-homologous synapsis, which is delayed until the latter part of pachynema. However, axial shortening in R7 and R8 is not accompanied by nonhomologous synapsis. In R7, nonhomologous synapsis does not occur; in R8, it is confined to quadrivalents in which the 4X axis is near its maximum length (i.e., early). This behavior suggests that axial shortening and nonhomologous synapsis during the progression of pachynema (previously considered collectively under the term “synaptic adjustment”) are not necessarily coupled events.
Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis
Authors: Andersen L.B. , Tommerup N. , Koch J.
Published: May 2008

An interstitial deletion, 17cen→q11.2 (or q12), and a small extra chromosome was found in a sporadic case of von Recklinghausen neurofibromatosis (NFl). In situ hybridization with a chromosome 17-specific α-satellite probe showed that the small chromosome was derived from the deleted region, most likely by an exision/ring formation.—This chromosome rearrangement is in agreement with the localization of the von Recklinghausen neurofibromatosis (NF1) locus to the proximal region of 17q, but with a more distal breakpoint than observed in two previously described reciprocal translocations associated with NF1. If the NFl gene has been truncated by the present rearrangement, it may sug gest that the NF1 gene is a very large gene at the genomic level. Alternatively, NF1 in this patient may be caused by the gradual loss in somatic cells of the small chromosome carrying an intact NF1 gene, thereby suggesting a recessive mechanism at the gene level. Finally, an intact NF1 gene may have been placed in close proximity with α-satellite sequences, which might cause inactivation of the gene.—The small supernumerary chromosome may not only facilitate the cloning of the NF1 gene itself, but also offers explanations of the mechanism underlying development of the disease.
Stillborn triploid complex hybrid of lemurs (Eulemur macaco × E. coronatus)
Authors: Rumpler Y. , Warter S. , Hauwy M. , Brun B.
Published: May 2008

The karyotype of a triploid lemur hybrid, issued from the backcross of an Eulemur macaco male with a female E. coronatus hybrid is reported. The differential negative effect of the multivalents on male and female fertility is discussed.
Regional localisation of the Friedreich ataxia locus to human chromosome 9q13→q21.1
Authors: Shaw J. , Lichter P. , Driesel A.J. , Williamson R. , Chamberlain S.
Published: May 2008

We have previously assigned the Friedreich ataxia locus (FRDA) to chromosome 9; the current maximal lod score between FRDA and MCT112 (D9S15) is > 50 at a recombination fraction of Θ = 0. The physical assignment of the locus defined by MCT12, and hence FRDA, has not been determined, although linkage analysis of MCT11 with other chromosome 9 markers inferred a location close to the centromere. We have used in situ hybridisation with MCT112, a corresponding cosmid MJ1, and DR47 (D9S5), coupled with mapping studies on hybrid cell panels, to define more precisely the location of the disease locus. The in situ location of all three probes is 9q1→q21.1, distal to the variable heterochromatin region. Physical assignment of FRDA will allow us to identify hybrid cell lines containing the mutated gene.
Assignment of the gene for β-spectrin (SPTB) to chromosome 14q23→q24.2 by in situ hybridization
Authors: Fukushima Y. , Byers M.G. , Watkins P.C. , Winkelmann J.C. , Forget B.G. , Shows T.B.
Published: May 2008

Type I hereditary spherocytosis results from a molecular defect in the β-polypeptide of the erythrocyte cytoskeletal protein spectrin. Using a cDNA probe, we had previously assigned the gene for human erythrocyte β-spectrin (SPTB) to chromosome 14 based upon analysis of its segregation in panels of human × rodent somatic cell hybrids (Winkelmann et al., 1988). Here we report the regional localization of this gene by in situ hybridization to 14q23→q24.2.
Isolation and characterization of cell hybrids containing human Xp-chromosome fragments
Authors: Wapenaar M.C. , Kievits T. , Meera Khan P. , Pearson P.L. , Van Ommen G.J.B.
Published: May 2008

We have subjected C12D, a Chinese hamster hybrid containing only the human X chromosome, to 6-thioguanine selection. The majority of the derivative clones retained rearranged Xp-fragments, which were characterized by using a combination of enzyme markers, DNA probes, and in situ hybridization. Two of these, TG2 and TG5sc9.1, contained only an Xpter→p21 fragment and should be an ideal resource for directed cloning from this region. A possible mechanism for the specific retention of Xp-fragments is discussed.
Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region
Authors: Schonk D. , van Dijk P. , Riegmann P. , Trapman J. , Holm C. , Willcocks T.C. , Sillekens P. , van Venrooij W. , Wimmer E. , Geurts van Kessel A.G. , Ropers H.-H. , Wieringa B.
Published: May 2008

Hybridization studies using a panel of somatic cell hybrids with subchromosomal segments of 19q have localized the genes encoding hormone-sensitive lipase (LIPE), carcinoembryonic antigen (CEA), and small nuclear ribonucleoprotein polypeptide A (SNRPA) to various regions of 19q13.1; the cellular receptor for poliovirus sensitivity (PVS) to 19ql3.2; and the genes coding for prostate-specific antigen (APS), human pancreatic kallikrein (KLK1), and small nuclear ribonucleoprotein 70-kD poly-peptide (SNRP70) to 19q 13.3 →qter. Our results exclude several of these genes from being seriously considered as a candidate for the myotonic dystrophy gene on 19q.
Synaptonemal complex analysis in Talpa occidentalis spermatocytes (Insectivora, Mammalia)
Authors: Jiménez R. , Burgos M. , Sánchez A. , Díaz de la Guardia R.
Published: May 2008

Zygotene and pachytene configurations of the X chromosome were studied in whole-mount, silver-stained preparations of spermatocytes from XY males from a population of Talpa occidentalis in which sex reversal has been described. The most striking finding in this study was a self-pairing conformation of the axial (differential) element of the X chromosome. This self-pairing was markedly constant in the site of initiation, which invariably involved the distal free end of the X and the region beyond the X-Y pairing segment, so that X-Y synapsis was never disturbed. In addition, self-pairing occurred later than autosomal synapsis and was accompanied by thickening of the axes, although this seemed to occur after the formation of an ordinary synaptonemal complex. The etiology of this phenomenon may be based on residual homology, possibly due to conservation of a primitive isochromosome throughout the karyotypic evolution of this species. However, the possible relationship between self-pairing and sex reversal remains obscure.
Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation
Authors: Gabriel-Robez O. , Rumpler Y. , Ratomponirina C. , Petit C. , Levilliers J. , Croquette M.F. , Couturier J.
Published: May 2008

Two males with a 46, Y, der(X), t(X;Y)(p22.3;q11) complement were referred independently for evaluation of sterility with azoospermia. Both patients exhibited minimal symptomatology, characterized only by psychological disturbances. Study of X-chromosome breakpoints with pseudoautosomal probes 68B (DXYZ2 elements), 113D (locus DXYS15), and 19B (locus MIC2) indicated in both patients that at least 97% of the X pseudoautosomal sequences are lost. Hybridization with Xp22.3-specific probes DXS283, DXS284, and DXS31 shows that these loci are retained on the rearranged chromosome. Thus, the X-chromosome breakpoints are located close to the proximal boundary of the pseudoautosomal region, between MIC2 and DXS284.
Discontinuous undercondensation of centromeric heterochromatin in mouse chromosomes: evidence in Hoechst 33258-treated cells
Authors: de la Torre J. , Goyanes V. , Gosálvez J.
Published: May 2008

Mouse chromosomes from the L929 cell line have been treated with Hoechst 33258 to induce undercondensation of centromeric heterochromatin. The morphological changes induced by this fluorochrome were analyzed in electron micrographs of whole-mounted chromosomes. Results show that the condensation inhibition of centromeric heterochromatin caused by Hoechst 33258 is not produced homogeneously and suggest compositional differences within an individual centromere.
Freemartinism in red deer (Cervus elaphus L.)
Authors: Stewart-Scott I.A. , Pearce P.D. , Moore G.H. , Fennessy P.F.
Published: May 2008

Several mixed-sex twins were produced by red deer treated with progesterone and pregnant mare’s serum gonadotrophin. Of seven females karyotyped, two were 68, XX/68, XY chimeras. One male had the same chimeric karyotype as its female co-twin. These are the first reported cases of freemartinism in deer.
Localization of human cardiac β-myosin heavy chain gene (MYH7) to chromosome 14q12 by in situ hybridization
Authors: Qin H. , Kemp J. , Yip M.-Y. , Lam-Po-Tang P.R.L. , Hoh J.F.Y. , Morris B.J.
Published: May 2008

The genes coding for each human cardiac myosin heavy chain (α-MHC and β-MHC, MYH6 and MYH7, respectively) are tightly linked and the α-MHC gene has been assigned to chromosome 14. In order to provide a more precise regional localization, in situ hybridization experiments were carried out using a 3H-labeled probe derived from a β-MHC genomic clone. The results demonstrated that the human cardiac MHC genes are located within the ql2 band of chromosome 14.
Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations
Authors: Cheung S.W. , Sun L. , Featherstone T.
Published: May 2008

Four individuals carrying different Robertsonian translocations (13q;14q, 14q;21q, 14q;15q, and 13q;21q) were studied to determine the breakpoints involved in the generation of these derivative chromosomes. Sequential high-resolution G-banding, in situ hybridization using alphoid and ribosomal DNA probes, and C-banding were performed. In addition, silver staining was also used for visualization of the NOR region. The results provide direct molecular cytogenetic evidence that Robertsonian translocations can take place in different regions in both the short arm and proximal long arm of acrocentric chromosomes. Three different types of breakpoints were identified: between the ribosomal or alphoid sequences, as deduced from the banding and in situ hybridization results, and breaks in two seemingly unrelated regions on the two different chromosomes. The use of conventional cytogenetic techniques together with molecular studies allowed more precise evaluation of the breakpoints involved in Robertsonian translocations than either approach alone might have done.
Detection of the Philadelphia chromosome in interphase nuclei
Authors: Arnoldus E.P.J. , Wiegant J. , Noordermeer I.A. , Wessels J.W. , Beverstock G.C. , Grosveld G.C. , van der Ploeg M. , Raap A.K.
Published: May 2008

Double fluorescence in situ hybridization was used to detect Philadelphia (Ph) chromosomes in interphase nuclei and metaphases of patients with chronic myeloid leukemia. Application of cosmid probes for 3’ ABL and 5’ BCR sequences gave better results than libraries for chromosomes 9 and 22. The present approach may provide an alternative method for monitoring minimal residual disease in Ph+ CML patients.
Immunocytogenetics
Authors: Haaf T. , Schmid M.
Published: May 2008

A new protein antigen of the nucleolus organizer region (NOR), designated He, was recognized by human autoantibodies obtained from a patient with Raynaud phenomenon. In mitotic cells of all vertebrate species tested, He serum selectively immunostained the chromosomal NORs. A completely unexpected characteristic of the He antigen was its location during interphase. In mammalian cell substrates, it was concentrated in numerous nucleoplasmic granules, with minor amounts of the antigen uniformly distributed throughout the entire nucleus. In interphase nuclei of lower vertebrate cells, however, the antigen was preferentially located in the nucleolus. The antigenicity of He is not dependent on RNA or DNA; its cytochemical properties operationally classify it as a nonhistone component of the chromosome scaffold. The He antigen was present in the residual nucleolar structures of cells that were not at all active in rRNA synthesis, such as mammalian late spermatids and amphibian erythrocytes.
In situ nick translation of human metaphase chromosomes with the restriction enzymes Mspl and Hpall reveals an R-band pattern
Authors: Adolph S. , Hameister H.
Published: May 2008

Several restriction enzymes (HindIll, HaeIII, Mspl, HpaII, EcoRl, Kpnl, and NotI were evaluated for their ability to induce bands in human metaphase chromosomes during in situ nick translation. Mspl and Hpallwere able to induce a completely developed R-band pattern. Preferential cleavage of R-band chromatin is due to the presence of unmethylated CpG-residues present in CpG-rich islands, which are apparently unevenly distributed and mainly concentrated in R-bands.
Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markers
Authors: Dietz-Band J.N. , Turco A.E. , Willard H.F. , Vincent A. , Skolnick M.H. , Barker D.F.
Published: May 2008

In a search for highly polymorphic X-specific loci, the X-chromosome DOE Ch35 phage library (LAOXNL01) was screened with three oligonucleotides representative of minisatellite consensus sequences. A total of 170 clones containing human inserts were isolated by hybridization to the oligonucleotide sequences; each was tested for polymorphism on five random female DNAs with six restriction enzymes. Among the 53 clones demonstrating a polymorphic pattern, 47 were of distinct origin. Twelve of the polymorphisms (23%) were determined to be autosomal. Polymorphisms for the remaining 35 clones were characterized. These polymorphisms represent 33 new X-chromosome RFLP loci, since two pairs of clones detected partially overlapping patterns. A pattern of similar length variation with multiple enzymes (“VNTR-type”) was demonstrated in 6 (50%) of the 12 non-X-polymorphic clones. However, only 3 (9%) of the 33 X polymorphic loci showed VNTR-like patterns, suggesting a decreased amount of VNTR polymorphism on the X chromosome. The 33 polymorphic X loci were physically localized with a set of rodent × human somatic cell hybrid DNAs representing nine different X-chromosome breakpoints.
Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization
Authors: Barletta C. , Batticane N. , Ragusa R.M. , Leube R. , Peschle C. , Romano V.
Published: May 2008

The genes for human cytokeratins 4 and 15 (KRT4 and 15) are assigned to the p11.2→q12 region of chromosome 12 (cytokeratin 4) and to the q21→q23 region of chromosome 17 (cytokeratin 15), respectively.
Regional assignments of the zinc finger Y-linked gene (ZFY) and related sequences on human and mouse chromosomes
Authors: Leung W.Y. , Lindgren V. , Lau Y.-F.C. , Yang-Feng T.L..
Published: May 2008

Recent chromosome walking experiments have identified a candidate gene (ZFY) for the testis-determining factor on the human Y chromosome (Page et al., 1987). We report here the regional assignments of the ZFY gene and related sequences in the human and the mouse. By in situ hybridization, we assigned ZFX and ZFY to human chromosome bands Xp21 and Yp11.3, respectively. Although the mouse harbors two Zfy genes, only one site at band A1 of its Y chromosome was significantly labeled. The mouse Zfx gene and the Zfa gene on chromosome 10 were assigned to bands XD and 10B5, respectively. These assignments of the ZFX gene in human and mouse add another marker to the conserved syntenic group for evaluating the evolutionary relationship of the human and mouse X chromosomes.
The human basic fibroblast growth factor gene (FGFB) is assigned to chromosome 4q25
Authors: Fukushima Y. , Byers M.G. , Fiddes J.C. , Shows T.B.
Published: May 2008

In situ hybridization was used to localize a cDNA probe for the basic fibroblast growth factor gene (FGFB) to human metaphase and prometaphase chromosomes. In this cornmunication we report the localization of this gene to 4q25.
Robertsonian chromosome polymorphism in the Arabian oryx (Oryx leucoryx)
Authors: Cribiu E.P. , Asmondé J.F. , Durand V. , Greth A. , Anagariyah S.
Published: May 2008

A Robertsonian translocation was found in a herd of Arabian oryx (Oryx leucoryx). The translocated chromosome, when analyzed by G-banding, seemed to involve the fusion of chromosomes 17 and 19. The results of C-banding suggested that the fused chromosome is dicentric. The translocation was traced back through two generations and occurred in a total of 8 of 62 animals in the herd.
Cytogenetic studies of Hynobiidae (Urodela)
Authors: Ikebe C. , Kuro-o M. , Yamamoto T. , Kohno S.
Published: May 2008

C- and R-banding analyses were performed on chromosomes of Salamandrella keyserlingii, in which 20 of 31 chromosome pairs could be identified. Banding patterns were compared between S. keyserlingii and specimens of Hynobius species of the family Hynobiidae. Between S. keyserlingii and six Hynobius species (2n = 56), there were four homoeologous and two partially homoeologous chromosome pairs. Between S. keyserlingii and H. retardatus (2n = 40), there were two homoeologous and two partially homoeologous chromosome pairs.
Localization of the gene for β1,4-galactosyltransferase to a position in the centromeric region of mouse Chromosome 4
Authors: Shaper N.L. , Shaper J.H. , Peyser M. , Kozak C.A.
Published: May 2008

The gene for UDP-β 1,4-galactosyltransferase (glycoprotein 4-β-galactosyltransferase, E.C. 2.4.1.38; Ggtb) was localized to the centromeric region of mouse Chromosome 4, between Mtv-14 and Mtv-17, using Southern blot analysis of an intersubspecies backcross.
Relationship of mouse minor satellite DNA to centromere activity
Authors: Broccoli D. , Miller O.J. , Miller D.A.
Published: May 2008

Chromosomes from a female mouse cell line were identified by Q-banding prior to in situ hybridization with 3H-labeled mouse minor satellite (satellite II) DNA. No cell was found in which every chromosome was labeled, but grain counts showed that every active centromeric region had minor satellite sequences. In the mouse T(10;13)199H translocation, the breakpoint was within the minor satellite array, leaving clusters of minor satellite at the C-bandless active centromere of the 1310 chromosome and at the interstitial C-band of the 1013 chromosome, which is not associated with centromeric activity. In a mouse A9 (L-cell derived) marker chromosome with one terminal and two interstitial C-bands, only the terminal C-band was adjacent to an active centromere, but minor satellite DNA was present at all three sites. Minor satellite DNA was not detected on the Y chromosome, although the presence of a small amount of divergent satellite sequences on this chromosome could not be ruled out.
Analysis of whole-arm translocations in malignant blood cells by nonisotopic in situ hybridization
Authors: Speleman F. , Mangelschots K. , Vercruyssen M. , Dal Cin P. , Aventin A. , Offner F. , Laureys G. , Van den Berghe H. , Leroy J.
Published: May 2008

Whole-arm translocations in five leukemic patients detect the target sequences. The results show that this technique were studied using nonisotopic in situ hybridization with α satellite provides additional information on the involvement of these DNA DNA and simple satellite chromosome-specific DNA probes to sequences in whole-arm translocations.