Journal articles: 'Mapping human chromosomes'

1

Bentley, David R., and Ian Dunham. "Mapping human chromosomes." Current Opinion in Genetics & Development 5, no. 3 (June 1995): 328–34. http://dx.doi.org/10.1016/0959-437x(95)80047-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Haig, David. "A brief history of human autosomes." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1388 (August 29, 1999): 1447–70. http://dx.doi.org/10.1098/rstb.1999.0490.

Full text

Abstract:

Comparative gene mapping and chromosome painting permit the tentative reconstruction of ancestral karyotypes. The modern human karyotype is proposed to differ from that of the most recent common ancestor of catarrhine primates by two major rearrangements. The first was the fission of an ancestral chromosome to produce the homologues of human chromosomes 14 and 15. This fission occurred before the divergence of gibbons from humans and other apes. The second was the fusion of two ancestral chromosomes to form human chromosome 2. This fusion occurred after the divergence of humans and chimpanzees. Moving further back in time, homologues of human chromosomes 3 and 21 were formed by the fission of an ancestral linkage group that combined loci of both human chromosomes, whereas homologues of human chromosomes 12 and 22 were formed by a reciprocal translocation between two ancestral chromosomes. Both events occurred at some time after our most recent common ancestor with lemurs. Less direct evidence suggests that the short and long arms of human chromosomes 8, 16 and 19 were unlinked in this ancestor. Finally, the most recent common ancestor of primates and artiodactyls is proposed to have possessed a chromosome that combined loci from human chromosomes 4 and 8p, a chromosome that combined loci from human chromosomes 16q and 19q, and a chromosome that combined loci from human chromosomes 2p and 20.

APA, Harvard, Vancouver, ISO, and other styles

3

Watkins, PC, R. Eddy, Y. Fukushima, MG Byers, EH Cohen, WR Dackowski, RM Wydro, and TB Shows. "The gene for protein S maps near the centromere of human chromosome 3." Blood 71, no. 1 (January 1, 1988): 238–41. http://dx.doi.org/10.1182/blood.v71.1.238.238.

Full text

Abstract:

Abstract Two different mapping approaches were used to determine the human chromosomal location of the gene for protein S. A human protein S cDNA was used as a hybridization probe to analyze a panel of somatic cell hybrids containing different human chromosomes. Cosegregation of protein S-specific DNA restriction fragments with human chromosome 3 was observed. Three cell hybrids containing only a portion of chromosome 3 were analyzed in order to further localize protein S. Based on the somatic cell hybrid analysis, protein S is assigned to a region of chromosome 3 that contains a small part of the long arm and short arm of the chromosome including the centromere (3p21----3q21). In situ hybridization of the protein S cDNA probe to human metaphase chromosomes permitted a precise localization of protein S to the region of chromosome 3 immediately surrounding the centromere (3p11.1---- 3q11.2). Protein S is the first protein involved in blood coagulation that has been mapped to human chromosome 3.

APA, Harvard, Vancouver, ISO, and other styles

4

Watkins, PC, R. Eddy, Y. Fukushima, MG Byers, EH Cohen, WR Dackowski, RM Wydro, and TB Shows. "The gene for protein S maps near the centromere of human chromosome 3." Blood 71, no. 1 (January 1, 1988): 238–41. http://dx.doi.org/10.1182/blood.v71.1.238.bloodjournal711238.

Full text

Abstract:

Two different mapping approaches were used to determine the human chromosomal location of the gene for protein S. A human protein S cDNA was used as a hybridization probe to analyze a panel of somatic cell hybrids containing different human chromosomes. Cosegregation of protein S-specific DNA restriction fragments with human chromosome 3 was observed. Three cell hybrids containing only a portion of chromosome 3 were analyzed in order to further localize protein S. Based on the somatic cell hybrid analysis, protein S is assigned to a region of chromosome 3 that contains a small part of the long arm and short arm of the chromosome including the centromere (3p21----3q21). In situ hybridization of the protein S cDNA probe to human metaphase chromosomes permitted a precise localization of protein S to the region of chromosome 3 immediately surrounding the centromere (3p11.1---- 3q11.2). Protein S is the first protein involved in blood coagulation that has been mapped to human chromosome 3.

APA, Harvard, Vancouver, ISO, and other styles

5

Scardino, Rita, Vanessa Milioto, Anastasia A. Proskuryakova, Natalia A. Serdyukova, Polina L. Perelman, and Francesca Dumas. "Evolution of the Human Chromosome 13 Synteny: Evolutionary Rearrangements, Plasticity, Human Disease Genes and Cancer Breakpoints." Genes 11, no. 4 (April 1, 2020): 383. http://dx.doi.org/10.3390/genes11040383.

Full text

Abstract:

The history of each human chromosome can be studied through comparative cytogenetic approaches in mammals which permit the identification of human chromosomal homologies and rearrangements between species. Comparative banding, chromosome painting, Bacterial Artificial Chromosome (BAC) mapping and genome data permit researchers to formulate hypotheses about ancestral chromosome forms. Human chromosome 13 has been previously shown to be conserved as a single syntenic element in the Ancestral Primate Karyotype; in this context, in order to study and verify the conservation of primate chromosomes homologous to human chromosome 13, we mapped a selected set of BAC probes in three platyrrhine species, characterised by a high level of rearrangements, using fluorescence in situ hybridisation (FISH). Our mapping data on Saguinus oedipus, Callithrix argentata and Alouatta belzebul provide insight into synteny of human chromosome 13 evolution in a comparative perspective among primate species, showing rearrangements across taxa. Furthermore, in a wider perspective, we have revised previous cytogenomic literature data on chromosome 13 evolution in eutherian mammals, showing a complex origin of the eutherian mammal ancestral karyotype which has still not been completely clarified. Moreover, we analysed biomedical aspects (the OMIM and Mitelman databases) regarding human chromosome 13, showing that this autosome is characterised by a certain level of plasticity that has been implicated in many human cancers and diseases.

APA, Harvard, Vancouver, ISO, and other styles

6

Goodfellow, P. N. "Mapping the Y chromosome." Development 101, Supplement (March 1, 1987): 39. http://dx.doi.org/10.1242/dev.101.supplement.39.

Full text

Abstract:

DNA probes isolated from the human Y chromosome have been used to resolve two fundamental problems concerning the biology of sex determination in man. Coincidentally, resolution of these problems has generated genetic maps of the short arm of the human Y chromosome and has allowed the regional localization of TDF. The first problem to be solved was the origin of XX males (de la Chapelle, this symposium): the majority of XX males are caused by a telomeric exchange between the X and Y chromosomes that results in TDF and a variable amount of Y-derived material being transferred to the X chromosome. The differing amounts of Y-derived material present in XX males has been used as the basis of a ‘deletion’ map of the Y chromosome (Müller; Ferguson-Smith & Affara; this symposium).

APA, Harvard, Vancouver, ISO, and other styles

7

Merante, Frank, Alessandra M. V. Duncan, Grant Mitchell, Catherine Duff, Joanna Rommens, and Brian H. Robinson. "Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene." Genome 40, no. 3 (June 1, 1997): 318–24. http://dx.doi.org/10.1139/g97-044.

Full text

Abstract:

The chromosomal loci corresponding to human cytochrome c oxidase (COX) subunit VIIa Liver (VIIa-L) isoform genes were determined utilizing a combined approach of genomic cloning, in situ hybridization, and somatic cell hybrid genetics. In contrast to the proposal of E. Arnaudo et al. (Gene (Amst.), 119: 299–305. 1992) that COX VIIa-L sequences are located on chromosomes 4 and 14, we found that COX VIIa-L related sequences reside on chromosome 6, while an additional COX VIIa-L cross-reacting sequence (ψ-gene) was located on chromosome 4.Key words: human, cytochrome c oxidase, gene mapping, pseudogenes.

APA, Harvard, Vancouver, ISO, and other styles

8

Lugo, T. G., B. Handelin, A. M. Killary, D. E. Housman, and R. E. Fournier. "Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes." Molecular and Cellular Biology 7, no. 8 (August 1987): 2814–20. http://dx.doi.org/10.1128/mcb.7.8.2814-2820.1987.

Full text

Abstract:

We sought an efficient means to introduce specific human chromosomes into stable interspecific hybrid cells for applications in gene mapping and studies of gene regulation. A defective amphotropic retrovirus was used to insert the gene conferring G418 resistance (neo), a dominant selectable marker, into the chromosomes of diploid human fibroblasts, and the marked chromosomes were transferred to mouse recipient cells by microcell fusion. We recovered five microcell hybrid clones containing one or two intact human chromosomes which were identified by karyotype and marker analysis. Integration of the neo gene into a specific human chromosome in four hybrid clones was confirmed by segregation analysis or by in situ hybridization. We recovered four different human chromosomes into which the G418 resistance gene had integrated: human chromosomes 11, 14, 20, and 21. The high efficiency of retroviral vector transformation makes it possible to insert selectable markers into any mammalian chromosomes of interest.

APA, Harvard, Vancouver, ISO, and other styles

9

Lugo, T. G., B. Handelin, A. M. Killary, D. E. Housman, and R. E. Fournier. "Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes." Molecular and Cellular Biology 7, no. 8 (August 1987): 2814–20. http://dx.doi.org/10.1128/mcb.7.8.2814.

Full text

Abstract:

We sought an efficient means to introduce specific human chromosomes into stable interspecific hybrid cells for applications in gene mapping and studies of gene regulation. A defective amphotropic retrovirus was used to insert the gene conferring G418 resistance (neo), a dominant selectable marker, into the chromosomes of diploid human fibroblasts, and the marked chromosomes were transferred to mouse recipient cells by microcell fusion. We recovered five microcell hybrid clones containing one or two intact human chromosomes which were identified by karyotype and marker analysis. Integration of the neo gene into a specific human chromosome in four hybrid clones was confirmed by segregation analysis or by in situ hybridization. We recovered four different human chromosomes into which the G418 resistance gene had integrated: human chromosomes 11, 14, 20, and 21. The high efficiency of retroviral vector transformation makes it possible to insert selectable markers into any mammalian chromosomes of interest.

APA, Harvard, Vancouver, ISO, and other styles

10

Willard, Huntington F. "The genomics of long tandem arrays of satellite DNA in the human genome." Genome 31, no. 2 (January 15, 1989): 737–44. http://dx.doi.org/10.1139/g89-132.

Full text

Abstract:

At least 10% of DNA in the human genome consists of long arrays of repeated sequences, arranged in tandem head-to-tail arrays in a number of discrete, highly localized chromosomal regions. Different families of these so-called "satellite DNA" sequences have been defined, organized in diverged subsets on different chromosomes. The molecular, cytogenetic, and evolutionary analysis of the hierarchical organization of such sequences in the human and other complex genomes encompasses a variety of approaches, including chromosomal mapping, in situ hybridization, genetic linkage analysis, long-range restriction mapping, and DNA sequencing. Investigation of the organization of satellite arrays constitutes a necessary first step towards eventual elucidation of the origin, evolution, and maintenance of these sequences and their contribution to the structure and behavior of human chromosomes.Key words: human genome, satellite DNA, chromosomes, genome analysis.

APA, Harvard, Vancouver, ISO, and other styles

11

Van Dijk, K. W., L. A. Milner, and E. C. Milner. "Mapping of human H chain V region genes (VH4) using deletional analysis and pulsed field gel electrophoresis." Journal of Immunology 148, no. 9 (May 1, 1992): 2923–31. http://dx.doi.org/10.4049/jimmunol.148.9.2923.

Full text

Abstract:

Abstract We have used molecular genetic mapping techniques to establish the order and approximate chromosomal locations of VH4 elements on both chromosomes 14 from a single patient. A total of 10 BglII restriction fragments carrying VH4 elements was characterized. The genomic order of VH4-carrying restriction fragments was determined by analysis of the pattern of loss of hybridizing bands from the genomes of a panel of monoclonal lymphoblastoid cell lines which had well characterized rearrangements of the Ig locus on each chromosome. Some individual elements were identified using sequence-specific oligonucleotide probes. Physical dimensions were estimated by the assignment of these ordered elements to large (50-350-kb) restriction fragments using two-dimensional pulse field gel electrophoresis. Six such fragments spanning approximately 890 kb were physically linked and ordered. The chromosomes differed with respect to the complement of VH4 elements, although no evidence was found of major differences in organization. The establishment of a panel of well characterized deletion lines facilitates the rapid mapping of defined restriction fragments carrying VH elements.

APA, Harvard, Vancouver, ISO, and other styles

12

Green, Eric D., Rose M. Mohr, Jacquelyn R. Idol, Myrna Jones, Judy M. Buckingham, Larry L. Deaven, Robert K. Moyzis, and Maynard V. Olson. "Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: Application to the mapping of human chromosome 7 using yeast artificial chromosomes." Genomics 11, no. 3 (November 1991): 548–64. http://dx.doi.org/10.1016/0888-7543(91)90062-j.

Full text

APA, Harvard, Vancouver, ISO, and other styles

13

Jowhar, Ziad, Sigal Shachar, Prabhakar R. Gudla, Darawalee Wangsa, Erin Torres, Jill L. Russ, Gianluca Pegoraro, Thomas Ried, Armin Raznahan, and Tom Misteli. "Effects of human sex chromosome dosage on spatial chromosome organization." Molecular Biology of the Cell 29, no. 20 (October 2018): 2458–69. http://dx.doi.org/10.1091/mbc.e18-06-0359.

Full text

Abstract:

Sex chromosome aneuploidies (SCAs) are common genetic syndromes characterized by the presence of an aberrant number of X and Y chromosomes due to meiotic defects. These conditions impact the structure and function of diverse tissues, but the proximal effects of SCAs on genome organization are unknown. Here, to determine the consequences of SCAs on global genome organization, we have analyzed multiple architectural features of chromosome organization in a comprehensive set of primary cells from SCA patients with various ratios of X and Y chromosomes by use of imaging-based high-throughput chromosome territory mapping (HiCTMap). We find that X chromosome supernumeracy does not affect the size, volume, or nuclear position of the Y chromosome or an autosomal chromosome. In contrast, the active X chromosome undergoes architectural changes as a function of increasing X copy number as measured by a decrease in size and an increase in circularity, which is indicative of chromatin compaction. In Y chromosome supernumeracy, Y chromosome size is reduced suggesting higher chromatin condensation. The radial positioning of chromosomes is unaffected in SCA karyotypes. Taken together, these observations document changes in genome architecture in response to alterations in sex chromosome numbers and point to trans-effects of dosage compensation on chromosome organization.

APA, Harvard, Vancouver, ISO, and other styles

14

Barker, P. E., H. D. Royer, F. H. Ruddle, and E. L. Reinherz. "Regional location of T cell receptor gene Ti alpha on human chromosome 14." Journal of Experimental Medicine 162, no. 1 (July 1, 1985): 387–92. http://dx.doi.org/10.1084/jem.162.1.387.

Full text

Abstract:

The chromosomal location of Ti alpha was determined by hybridization of a radiolabeled cDNA for the alpha chain of human T cell receptor with 12 human X mouse cell hybrid DNAs cleaved with BamHI. Seven hybrids contained human Ti alpha, while the remaining five lacked it. Only human chromosome 14 matched the distribution of human Ti alpha signal across the mapping panel. Hybrids segregating a chromosome 14 translocation were used to demonstrate that Ti alpha is in the region 14pter greater than 14q21. Thus, the alpha and beta chain genes that contribute structural components to the Ti moiety of the human T cell receptor lie on different chromosomes. In humans, the immunoglobulin heavy chain locus and Ti alpha are in different regions of chromosome 14, with Ti alpha more proximal and the immunoglobulin heavy chain locus more distal.

APA, Harvard, Vancouver, ISO, and other styles

15

Nonneman, D., and G. A. Rohrer. "Comparative mapping of human chromosome 10 to pig chromosomes 10 and 14." Animal Genetics 35, no. 4 (August 2004): 338–43. http://dx.doi.org/10.1111/j.1365-2052.2004.01165.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Ma, N. S. F., and D. S. Gerhard. "Mapping of five human chromosome 19 DNA markers to owl monkey chromosomes." Cytogenetic and Genome Research 59, no. 1 (1992): 57–62. http://dx.doi.org/10.1159/000133200.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Bahou, WF, WC Nierman, AS Durkin, CL Potter, and DJ Demetrick. "Chromosomal assignment of the human thrombin receptor gene: localization to region q13 of chromosome 5." Blood 82, no. 5 (September 1, 1993): 1532–37. http://dx.doi.org/10.1182/blood.v82.5.1532.1532.

Full text

Abstract:

Abstract A functional thrombin receptor (TR) structurally related to other members of the seven-transmembrane receptor family has been isolated from diverse cellular types intimately involved in the regulation of the thrombotic response. This receptor recapitulates many of the previously identified sequelae of thrombin-mediated cell activation phenomenon, and requires proteolytic cleavage for downstream effector- response coupling events. Using two complementary approaches, we have now completed the chromosomal assignment of the human thrombin receptor gene. Discordancy analysis of polymerase chain reaction products from a human-rodent hybrid cell mapping panel assigned the sequence to human chromosome 5 with no observed discordancies. Cytogenetic localization using fluorescence in situ hybridization on human metaphase chromosomes specifically localized the human TR gene to region q13 of chromosome 5, confirming its presence as a single-locus gene in the human genome. The chromosomal localization of the human TR gene is at or contiguous with the proximal breakpoint site identified in the majority of patients with the 5q- syndrome (dysmegakaryocytopoiesis and refractory anemia).

APA, Harvard, Vancouver, ISO, and other styles

18

Bahou, WF, WC Nierman, AS Durkin, CL Potter, and DJ Demetrick. "Chromosomal assignment of the human thrombin receptor gene: localization to region q13 of chromosome 5." Blood 82, no. 5 (September 1, 1993): 1532–37. http://dx.doi.org/10.1182/blood.v82.5.1532.bloodjournal8251532.

Full text

Abstract:

A functional thrombin receptor (TR) structurally related to other members of the seven-transmembrane receptor family has been isolated from diverse cellular types intimately involved in the regulation of the thrombotic response. This receptor recapitulates many of the previously identified sequelae of thrombin-mediated cell activation phenomenon, and requires proteolytic cleavage for downstream effector- response coupling events. Using two complementary approaches, we have now completed the chromosomal assignment of the human thrombin receptor gene. Discordancy analysis of polymerase chain reaction products from a human-rodent hybrid cell mapping panel assigned the sequence to human chromosome 5 with no observed discordancies. Cytogenetic localization using fluorescence in situ hybridization on human metaphase chromosomes specifically localized the human TR gene to region q13 of chromosome 5, confirming its presence as a single-locus gene in the human genome. The chromosomal localization of the human TR gene is at or contiguous with the proximal breakpoint site identified in the majority of patients with the 5q- syndrome (dysmegakaryocytopoiesis and refractory anemia).

APA, Harvard, Vancouver, ISO, and other styles

19

Nelson, D. L., S. A. Ledbetter, L. Corbo, M. F. Victoria, R. Ramírez-Solis, T. D. Webster, D. H. Ledbetter, and C. T. Caskey. "Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources." Proceedings of the National Academy of Sciences 86, no. 17 (September 1989): 6686–90. http://dx.doi.org/10.1073/pnas.86.17.6686.

Full text

Abstract:

Current efforts to map the human genome are focused on individual chromosomes or smaller regions and frequently rely on the use of somatic cell hybrids. We report the application of the polymerase chain reaction to direct amplification of human DNA from hybrid cells containing regions of the human genome in rodent cell backgrounds using primers directed to the human Alu repeat element. We demonstrate Alu-directed amplification of a fragment of the human HPRT gene from both hybrid cell and cloned DNA and identify through sequence analysis the Alu repeats involved in this amplification. We also demonstrate the application of this technique to identify the chromosomal locations of large fragments of the human X chromosome cloned in a yeast artificial chromosome and the general applicability of the method to the preparation of DNA probes from cloned human sequences. The technique allows rapid gene mapping and provides a simple method for the isolation and analysis of specific chromosomal regions.

APA, Harvard, Vancouver, ISO, and other styles

20

Leonard, Mrs Carol. "Poster Available That Depicts Mapping of Human Chromosomes." American Biology Teacher 55, no. 4 (April 1, 1993): 197. http://dx.doi.org/10.2307/4449629.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Ferrer, J., J. Wasson, K. D. Schoor, M. Mueckler, H. Donis-Keller, and M. A. Permutt. "Mapping Novel Pancreatic Islet Genes to Human Chromosomes." Diabetes 46, no. 3 (March 1, 1997): 386–92. http://dx.doi.org/10.2337/diab.46.3.386.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Ferrer, J., J. Wasson, K. D. Schoor, M. Mueckler, H. Donis-Keller, and M. A. Permutt. "Mapping novel pancreatic islet genes to human chromosomes." Diabetes 46, no. 3 (March 1, 1997): 386–92. http://dx.doi.org/10.2337/diabetes.46.3.386.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Porteous, D. J., J. E. Morten, G. Cranston, J. M. Fletcher, A. Mitchell, V. van Heyningen, J. A. Fantes, P. A. Boyd, and N. D. Hastie. "Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants." Molecular and Cellular Biology 6, no. 6 (June 1986): 2223–32. http://dx.doi.org/10.1128/mcb.6.6.2223-2232.1986.

Full text

Abstract:

We used mitotic chromosomes isolated from a human EJ bladder carcinoma cell line for morphological transformation of mouse C127 cells. These chromosome-mediated transformants were analyzed for cotransfer of markers syntenic with c-Ha-ras-1 on human chromosome 11. We also used cloned, dispersed human DNA repeats, in a general mapping strategy, to quantitate the amounts and molecular state of human DNA transferred along with the activated c-Ha-ras-1 gene. In situ hybridization was used to visualize the physical state of the transfected human chromatin. The combined use of these various techniques revealed the occurrence of both chromosomal and DNA rearrangements. However, our analysis also demonstrated that, in general, very substantial lengths of DNA are transferred intact. Closely linked markers are likely to cosegregate. Therefore, these transformants should be invaluable sources for the complete molecular cloning of isolated fragments of the short arm of human chromosome 11.

APA, Harvard, Vancouver, ISO, and other styles

24

Porteous, D. J., J. E. Morten, G. Cranston, J. M. Fletcher, A. Mitchell, V. van Heyningen, J. A. Fantes, P. A. Boyd, and N. D. Hastie. "Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants." Molecular and Cellular Biology 6, no. 6 (June 1986): 2223–32. http://dx.doi.org/10.1128/mcb.6.6.2223.

Full text

Abstract:

We used mitotic chromosomes isolated from a human EJ bladder carcinoma cell line for morphological transformation of mouse C127 cells. These chromosome-mediated transformants were analyzed for cotransfer of markers syntenic with c-Ha-ras-1 on human chromosome 11. We also used cloned, dispersed human DNA repeats, in a general mapping strategy, to quantitate the amounts and molecular state of human DNA transferred along with the activated c-Ha-ras-1 gene. In situ hybridization was used to visualize the physical state of the transfected human chromatin. The combined use of these various techniques revealed the occurrence of both chromosomal and DNA rearrangements. However, our analysis also demonstrated that, in general, very substantial lengths of DNA are transferred intact. Closely linked markers are likely to cosegregate. Therefore, these transformants should be invaluable sources for the complete molecular cloning of isolated fragments of the short arm of human chromosome 11.

APA, Harvard, Vancouver, ISO, and other styles

25

Fraser, James A., Johnny C. Huang, Read Pukkila-Worley, J. Andrew Alspaugh, Thomas G. Mitchell, and Joseph Heitman. "Chromosomal Translocation and Segmental Duplication in Cryptococcus neoformans." Eukaryotic Cell 4, no. 2 (February 2005): 401–6. http://dx.doi.org/10.1128/ec.4.2.401-406.2005.

Full text

Abstract:

ABSTRACT Large chromosomal events such as translocations and segmental duplications enable rapid adaptation to new environments. Here we marshal genomic, genetic, meiotic mapping, and physical evidence to demonstrate that a chromosomal translocation and segmental duplication occurred during construction of a congenic strain pair in the fungal human pathogen Cryptococcus neoformans. Two chromosomes underwent telomere-telomere fusion, generating a dicentric chromosome that broke to produce a chromosomal translocation, forming two novel chromosomes sharing a large segmental duplication. The duplication spans 62,872 identical nucleotides and generated a second copy of 22 predicted genes, and we hypothesize that this event may have occurred during meiosis. Gene disruption studies of one embedded gene (SMG1) corroborate that this region is duplicated in an otherwise haploid genome. These findings resolve a genome project assembly anomaly and illustrate an example of rapid genome evolution in a fungal genome rich in repetitive elements.

APA, Harvard, Vancouver, ISO, and other styles

26

Pellestor, Franck, Petra Paulasova, Milan Macek, and Samir Hamamah. "The Use of Peptide Nucleic Acids for In Situ Identification of Human Chromosomes." Journal of Histochemistry & Cytochemistry 53, no. 3 (March 2005): 395–400. http://dx.doi.org/10.1369/jhc.4r6399.2005.

Full text

Abstract:

The peptide nucleic acids (PNAs) constitute a remarkable new class of synthetic nucleic acid analogues, based on their peptide-like backbone. This structure gives to PNAs the capacity to hybridize with high affinity and specificity to complementary RNA and DNA sequences and a great resistance to nucleases and proteinases. Originally conceived as ligands for the study of double-stranded DNA, the unique physicochemical properties of PNAs have led to the development of a large variety of research and diagnostic assays, including antigene and antisense therapy, genome mapping, and mutation detection. Over the past few years, PNAs have been shown to be powerful tools in cytogenetics for the rapid in situ identification of human chromosomes and the detection of aneuploidies. Recent studies have reported the successful use of chromosome-specific PNA probes on human lymphocytes, amniocytes, and spermatozoa, as well as on isolated oocytes and blastomeres. Multicolor PNA protocols have been described for the identification of several human chromosomes, indicating that PNAs could become a powerful complement to FISH for in situ chromosomal investigation.

APA, Harvard, Vancouver, ISO, and other styles

27

Beever, J. E., S. R. Fisher, G. Guérin, and H. A. Lewin. "Mapping of eight human Chromosome 1 orthologs to cattle Chromosomes 3 and 16." Mammalian Genome 8, no. 7 (July 1997): 533–36. http://dx.doi.org/10.1007/s003359900493.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Hallégot, P., C. Girod, M. M. Le Beau, and R. Levi-Setti. "Direct nucleotide mapping of human chromosomes by imaging Secondary Ion Mass Spectometry." Proceedings, annual meeting, Electron Microscopy Society of America 48, no. 3 (August 12, 1990): 114–15. http://dx.doi.org/10.1017/s042482010015811x.

Full text

Abstract:

The relationship between chromosome banding patterns obtained by a variety of staining methods (G,Q,R, and C) and the actual nucleotide content of the different bands, has been the subject of extensive investigations over the past 20 years and has been critically reviewed. Although a number of in vitro experiments have shown preference of certain stains for specific bases, the presence of proteins in chromosomes and their interaction with the DNA, has to some extent obscured a direct correlation between banding patterns and base content. Even the widely useful differential staining following substitution of the thymidine in DNA by the analog bromodeoxyuridine (BrdU), is not independent of the presence of proteins. Clearly, it would be desirable to examine physical methods capable of assessing DNA base composition in chromosomes, free of chemical interactions. One of these methods, already successfully applied involves the 3H-labelling of nucleotides and subsequent detection by autoradiography. An alternative approach, the subject of this report, is capable of attaining much improved spatial resolution and consists of the detection of isotope-labelled nucleotides by secondary ion mass spectrometry (SIMS).

APA, Harvard, Vancouver, ISO, and other styles

29

Artemov, Gleb, Vladimir Stegniy, Maria Sharakhova, and Igor Sharakhov. "The Development of Cytogenetic Maps for Malaria Mosquitoes." Insects 9, no. 3 (September 17, 2018): 121. http://dx.doi.org/10.3390/insects9030121.

Full text

Abstract:

Anopheline mosquitoes are important vectors of human malaria. Next-generation sequencing opens new opportunities for studies of mosquito genomes to uncover the genetic basis of a Plasmodium transmission. Physical mapping of genome sequences to polytene chromosomes significantly improves reference assemblies. High-resolution cytogenetic maps are essential for anchoring genome sequences to chromosomes as well as for studying breakpoints of chromosome rearrangements and chromatin protein localization. Here we describe a detailed pipeline for the development of high-resolution cytogenetic maps using polytene chromosomes of malaria mosquitoes. We apply this workflow to the refinement of the cytogenetic map developed for Anopheles beklemishevi.

APA, Harvard, Vancouver, ISO, and other styles

30

Fischer, K., P. Horrocks, M. Preuss, J. Wiesner, S. Wünsch, A. A. Camargo, and M. Lanzer. "Expression of var genes located within polymorphic subtelomeric domains of Plasmodium falciparum chromosomes." Molecular and Cellular Biology 17, no. 7 (July 1997): 3679–86. http://dx.doi.org/10.1128/mcb.17.7.3679.

Full text

Abstract:

Plasmodium falciparum var genes encode a diverse family of proteins, located on the surfaces of infected erythrocytes, which are implicated in the pathology of human malaria through antigenic variation and adhesion of infected erythrocytes to the microvasculature. We have constructed a complete representative telomere-to-telomere yeast artificial chromosome (YAC) contig map of the P. falciparum chromosome 8 for studies on the chromosomal organization, distribution, and expression of var genes. Three var gene loci were identified on chromosome 8, two of which map close to the telomeres at either end of the chromosome. Analysis of the previously described chromosome 2 contig map and random P. falciparum telomeric YAC clones revealed that most, if not all, 14 P. falciparum chromosomes contain var genes in a subtelomeric location. Mapping the chromosomal location of var genes expressed in a long-term culture of the P. falciparum isolate Dd2 revealed that four of the five different expressed var genes identified map within subtelomeric locations. Expression of var genes from a chromosomal domain known for frequent rearrangements has important implications for the mechanism of var gene switching and the generation of novel antigenic and adhesive phenotypes.

APA, Harvard, Vancouver, ISO, and other styles

31

Beugelsdijk, Tony J. "Technologies for large-scale physical mapping of human chromosomes." Laboratory Automation & Information Management 31, no. 3 (February 1996): 203–10. http://dx.doi.org/10.1016/s1381-141x(96)80005-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Stallings, R. L., D. C. Torney, C. E. Hildebrand, J. L. Longmire, L. L. Deaven, J. H. Jett, N. A. Doggett, and R. K. Moyzis. "Physical mapping of human chromosomes by repetitive sequence fingerprinting." Proceedings of the National Academy of Sciences 87, no. 16 (August 1, 1990): 6218–22. http://dx.doi.org/10.1073/pnas.87.16.6218.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Pritchard, Catrin A., and Peter N. Goodfellow. "Genetic analysis of the human Y chromosome by chromosome-mediated gene transfer." Development 101, Supplement (March 1, 1987): 59–65. http://dx.doi.org/10.1242/dev.101.supplement.59.

Full text

Abstract:

Chromosome-mediated gene transfer (CMGT) can be used to segregate fragments of human chromosomes in human—rodent hybrid cells. As with all somatic cell genetics methods, a selection technique is needed to isolate the hybrid cell lines produced by CMGT. Expression of the MIC2 gene product on the cell surface (the 12E7 antigen) provides an endogenous selectable marker for the human Y chromosome. Using chromosome transfer followed by separation of 12E7 antigen-positive cells on the fluorescence-activated cell sorter, a series of cell lines containing segregated fragments of the Y chromosome have been derived. The possibility of using these fragments to derive fine structural mapping data for the Y chromosome is considered in this review.

APA, Harvard, Vancouver, ISO, and other styles

34

Fisher, S. R., J. E. Beever, and H. A. Lewin. "Genetic mapping of five human chromosome 4 orthologues to bovine chromosomes 6 and 17." Animal Genetics 28, no. 4 (August 1997): 253–57. http://dx.doi.org/10.1111/j.1365-2052.1997.00131.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Antoniou, E., J. E. Womack, and M. D. Grosz. "Synteny mapping of five human chromosome 7 genes on bovine chromosomes 4 and 21." Cytogenetic and Genome Research 84, no. 1-2 (1999): 121–24. http://dx.doi.org/10.1159/000015236.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Wight, Darren J., Giulia Aimola, Amr Aswad, Chi-Yu Jill Lai, Christian Bahamon, Karl Hong, Joshua A. Hill, and Benedikt B. Kaufer. "Unbiased optical mapping of telomere-integrated endogenous human herpesvirus 6." Proceedings of the National Academy of Sciences 117, no. 49 (November 23, 2020): 31410–16. http://dx.doi.org/10.1073/pnas.2011872117.

Full text

Abstract:

Next-generation sequencing technologies allowed sequencing of thousands of genomes. However, there are genomic regions that remain difficult to characterize, including telomeres, centromeres, and other low-complexity regions, as well as transposable elements and endogenous viruses. Human herpesvirus 6A and 6B (HHV-6A and HHV-6B) are closely related viruses that infect most humans and can integrate their genomes into the telomeres of infected cells. Integration also occurs in germ cells, meaning that the virus can be inherited and result in individuals harboring the virus in every cell of their body. The integrated virus can reactivate and cause disease in humans. While it is well established that the virus resides in the telomere region, the integration locus is poorly defined due to the low sequence complexity (TTAGGG)n of telomeres that cannot be easily resolved through sequencing. We therefore employed genome imaging of the integrated HHV-6A and HHV-6B genomes using whole-genome optical site mapping technology. Using this technology, we identified which chromosome arm harbors the virus genome and obtained a high-resolution map of the integration loci of multiple patients. Surprisingly, this revealed long telomere sequences at the virus−subtelomere junction that were previously missed using PCR-based approaches. Contrary to what was previously thought, our technique revealed that the telomere lengths of chromosomes harboring the integrated virus genome were comparable to the other chromosomes. Taken together, our data shed light on the genetic structure of the HHV-6A and HHV-6B integration locus, demonstrating the utility of optical mapping for the analysis of genomic regions that are difficult to sequence.

APA, Harvard, Vancouver, ISO, and other styles

37

KITAGAWA, Hiroshi, Masateru TAOKA, Yuko TONE, and Kazuyuki SUGAHARA. "Human glycosaminoglycan glucuronyltransferase I gene and a related processed pseudogene: genomic structure, chromosomal mapping and characterization." Biochemical Journal 358, no. 3 (September 10, 2001): 539–46. http://dx.doi.org/10.1042/bj3580539.

Full text

Abstract:

Here we describe the characterization of the human glycosaminoglycan glucuronyltransferase I gene (GlcAT-I) and a related pseudogene. The GlcAT-I gene was localized to human chromosome 11q12–q13 by in situ hybridization of metaphase chromosomes. GlcAT-I spanned 7kb of human genomic DNA and was divided into five exons. Northern blot analysis showed that GlcAT-I exhibited ubiquitous but markedly different expressions in the human tissues examined. The GlcAT-I promoter was approx. 3-fold more active in a melanoma cell line than in a hepatoma cell line, providing evidence for the differential regulation of the gene's expression. Stepwise 5′ deletions of the promoter identified a strong enhancer element between −303 and −153bp that included binding motifs for Ets, CREB (cAMP-response-element-binding protein) and STAT (signal transducers and activators of transcription). Screening of a human genomic library identified one additional distinct genomic clone containing an approx. 1.4kb sequence region that shared an overall 95.3% nucleotide identity with exons 1–5 of GlcAT-I. However, a lack of intron sequences, as well as the presence of several nucleotide mutations, insertions and deletions that disrupted the potential GlcAT-I reading frame, suggested that the clone contained a processed pseudogene. The pseudogene was localized to chromosome 3. The human genome therefore contains two related GlcAT-I genes that are located on separate chromosomes.

APA, Harvard, Vancouver, ISO, and other styles

38

Proskuryakova, Kulemzina, Perelman, Yudkin, Lemskaya, Okhlopkov, Kirillin, et al. "Comparative Chromosome Mapping of Musk Ox and the X Chromosome among Some Bovidae Species." Genes 10, no. 11 (October 29, 2019): 857. http://dx.doi.org/10.3390/genes10110857.

Full text

Abstract:

: Bovidae, the largest family in Pecora infraorder, are characterized by a striking variability in diploid number of chromosomes between species and among individuals within a species. The bovid X chromosome is also remarkably variable, with several morphological types in the family. Here we built a detailed chromosome map of musk ox (Ovibos moschatus), a relic species originating from Pleistocene megafauna, with dromedary and human probes using chromosome painting. We trace chromosomal rearrangements during Bovidae evolution by comparing species already studied by chromosome painting. The musk ox karyotype differs from the ancestral pecoran karyotype by six fusions, one fission, and three inversions. We discuss changes in pecoran ancestral karyotype in the light of new painting data. Variations in the X chromosome structure of four bovid species nilgai bull (Boselaphus tragocamelus), saola (Pseudoryx nghetinhensis), gaur (Bos gaurus), and Kirk’s Dikdik (Madoqua kirkii) were further analyzed using 26 cattle BAC-clones. We found the duplication on the X in saola. We show main rearrangements leading to the formation of four types of bovid X: Bovinae type with derived cattle subtype formed by centromere reposition and Antilopinae type with Caprini subtype formed by inversion in XSB3.

APA, Harvard, Vancouver, ISO, and other styles

39

Weissenbach, Jean, Jacqueline Levilliers, Christine Petit, François Rouyer, and Marie-Christine Simmler. "Normal and abnormal interchanges between the human X and Y chromosomes." Development 101, Supplement (March 1, 1987): 67–74. http://dx.doi.org/10.1242/dev.101.supplement.67.

Full text

Abstract:

A single obligatory recombination event takes place at male meiosis in the tips of the X- and Y-chromosome short arms (i.e. the pseudoautosomal region). The crossover point is at variable locations and thus allows recombination mapping of the pseudoautosomal loci along a gradient of sex linkage. Recombination at male meiosis in the terminal regions of the short arms of the X and Y chromosomes is 10- to 20-fold higher than between the same regions of the X chromosomes during female meiosis. The human pseudoautosomal region is rich in highly polymorphic loci associated with minisatellites. However, these minisatellites are unrelated to those resembling the bacterial Chi sequence and which possibly represent recombination hotspots. The high recombination activity of the pseudoautosomal region at male meiosis sometimes results in unequal crossover which can generate various sex-reversal syndromes.

APA, Harvard, Vancouver, ISO, and other styles

40

Marechal, Vincent, Axelle Dehee, Roxane Chikhi-Brachet, Tristan Piolot, Maité Coppey-Moisan, and Jean-Claude Nicolas. "Mapping EBNA-1 Domains Involved in Binding to Metaphase Chromosomes." Journal of Virology 73, no. 5 (May 1, 1999): 4385–92. http://dx.doi.org/10.1128/jvi.73.5.4385-4392.1999.

Full text

Abstract:

ABSTRACT The Epstein-Barr virus (EBV) genome can persist in dividing human B cells as multicopy circular episomes. Viral episomes replicate in synchrony with host cell DNA and are maintained at a relatively constant copy number for a long time. Only two viral elements, the replication origin OriP and the EBNA-1 protein, are required for the persistence of viral genomes during latency. EBNA-1 activates OriP during the S phase and may also contribute to the partition and/or retention of viral genomes during mitosis. Indeed, EBNA-1 has been shown to interact with mitotic chromatin. Moreover, viral genomes are noncovalently associated with metaphase chromosomes. This suggests that EBNA-1 may facilitate the anchorage of viral genomes on cellular chromosomes, thus ensuring proper partition and retention. In the present paper, we have investigated the chromosome-binding activity of EBV EBNA-1, herpesvirus papio (HVP) EBNA-1, and various derivatives of EBV EBNA-1, fused to a variant of the green fluorescent protein. The results show that binding to metaphase chromosomes is a common property of EBV and HVP EBNA-1. Further studies indicated that at least three independent domains (CBS-1, -2, and -3) mediate EBNA-1 binding to metaphase chromosomes. In agreement with the anchorage model, two of these domains mapped to a region that has been previously demonstrated to be required for the long-term persistence of OriP-containing plasmids.

APA, Harvard, Vancouver, ISO, and other styles

41

Westbrook, CA, CM Rubin, JJ Carrino, MM Le Beau, A. Bernards, and JD Rowley. "Long-range mapping of the Philadelphia chromosome by pulsed-field gel electrophoresis." Blood 71, no. 3 (March 1, 1988): 697–702. http://dx.doi.org/10.1182/blood.v71.3.697.697.

Full text

Abstract:

Abstract The Philadelphia chromosome (Ph1) of chronic myelogenous leukemia (CML) contains sequences from chromosome 9, including the ABL protooncogene, that have been translocated to the breakpoint cluster region (bcr) of chromosome 22, giving rise to a bcr-ABL fusion gene, whose product has been implicated in the genesis of CML. Although chromosome 22 translocation breakpoints in CML virtually always occur within the 5.8- kilobase (kb) bcr, chromosome 9 breakpoints have been identified within the known limits of ABL in only a few instances. For a better understanding of the variability of the breakpoints on chromosome 9, we studied the CML cell line BV173. Using pulsed-field gel electrophoresis (PFGE), large-scale maps of the t(9;22) junctions were constructed. The chromosome 9 breakpoint was shown to have occurred within an ABL intron, 160 kb upstream of the v-abl homologous sequences, but still 35 kb downstream of the 5′-most ABL exon. bcr-ABL and ABL-bcr fusion genes were demonstrated on the Ph1 and the 9q+ chromosomes, respectively; both of these genes are expressed. These results suggest that the 9;22 translocation breakpoints in CML consistently occur within the limits of the large ABL gene. RNA splicing, sometimes of very large regions, appears to compensate for the variability in breakpoint location. These studies show that PFGE is a powerful new tool for the analysis of chromosomal translocations in human malignancies.

APA, Harvard, Vancouver, ISO, and other styles

42

Westbrook, CA, CM Rubin, JJ Carrino, MM Le Beau, A. Bernards, and JD Rowley. "Long-range mapping of the Philadelphia chromosome by pulsed-field gel electrophoresis." Blood 71, no. 3 (March 1, 1988): 697–702. http://dx.doi.org/10.1182/blood.v71.3.697.bloodjournal713697.

Full text

Abstract:

The Philadelphia chromosome (Ph1) of chronic myelogenous leukemia (CML) contains sequences from chromosome 9, including the ABL protooncogene, that have been translocated to the breakpoint cluster region (bcr) of chromosome 22, giving rise to a bcr-ABL fusion gene, whose product has been implicated in the genesis of CML. Although chromosome 22 translocation breakpoints in CML virtually always occur within the 5.8- kilobase (kb) bcr, chromosome 9 breakpoints have been identified within the known limits of ABL in only a few instances. For a better understanding of the variability of the breakpoints on chromosome 9, we studied the CML cell line BV173. Using pulsed-field gel electrophoresis (PFGE), large-scale maps of the t(9;22) junctions were constructed. The chromosome 9 breakpoint was shown to have occurred within an ABL intron, 160 kb upstream of the v-abl homologous sequences, but still 35 kb downstream of the 5′-most ABL exon. bcr-ABL and ABL-bcr fusion genes were demonstrated on the Ph1 and the 9q+ chromosomes, respectively; both of these genes are expressed. These results suggest that the 9;22 translocation breakpoints in CML consistently occur within the limits of the large ABL gene. RNA splicing, sometimes of very large regions, appears to compensate for the variability in breakpoint location. These studies show that PFGE is a powerful new tool for the analysis of chromosomal translocations in human malignancies.

APA, Harvard, Vancouver, ISO, and other styles

43

Auer, Rebecca L., Sophia Riaz, and Finbarr E. Cotter. "The 13q and 11q B-Cell Chronic Lymphocytic Leukemia Deleted Regions Derive from a Common Ancestral Region in the Zebrafish on Linkage Group 9." Blood 108, no. 11 (November 16, 2006): 295. http://dx.doi.org/10.1182/blood.v108.11.295.295.

Full text

Abstract:

Abstract Loss of the long arm of chromosomes 11 and 13 are the most consistent cytogenetic abnormalities for patients with B-cell chronic lymphocytic leukemia (B-CLL). They suggest the presence of as yet unidentified tumor suppressor genes within well defined minimal deleted regions (MDRs). The use of small vertebrate organisms, such as the zebrafish, as models of diseases associated with chromosomal deletions enables the functional analysis of potential causative genes. Hemopoiesis is well conserved between the zebrafish and human and conserved synteny exists between the two genomes. In this study, the evolutionary conservation between the zebrafish and human genome is investigated for the 13q14 and 11q22-23 regions deleted in B-CLL. Zebrafish orthologs have been identified and radiation hybrid (RH) mapping performed to confirm their chromosomal location and define regions of conserved synteny.We have identified 38 zebrafish orthologs of the human genes in the MDRs in zebrafish cDNA and the syntenic regions for the human deletions in the zebrafish genome. The 13q14 region was syntenic with two main regions in the zebrafish genome, namely linkage group 1 (LG1) and LG9. The majority of zebrafish orthologs to 11q22-23 were found on LG5, LG15 and LG21. One syntenic region, LG9, in the zebrafish genome is of potential interest. Analysis of the smallest critical region of deletion in B-CLL for both 11q22-23 and 13q14 reveals that the human gene equivalents are contained within an area of 22.02 cR on LG9 (approximately 3260 kb). Within LG9, orthologs to two genes to human chromosome 11, three to human chromosome 13 and two chromosome 13 microRNAs (mir-15a and mir-16-1) were identified. The critical region on zebrafish LG9 maps to the MDR for both human chromosomes, suggesting a common ancestry for the B-CLL tumor suppressor genes. This is further supported by analysis of the chicken genome where the same 5 genes from 13q14 and 11q22-23 (C13orf1, RFP2, FLJ11712, FDX1, ARHGAP20) lie within a 10.04 Mb region on chromosome 1. In addition, TILLING for knock-outs of genes in this region of zebrafish embryos will allow analysis of their in vivo potential for lymphoproliferation and may define prime causative genes for B-CLL within human chromosomes 11q and 13q by reverse genetics. Our study provides an explanation for involvement of both 11q and 13q in B-CLL and the potential to develop animal models for this common lymphoproliferative disorder.

APA, Harvard, Vancouver, ISO, and other styles

44

Bellanné-Chantelot, Christine, Bruno Lacroix, Pierre Ougen, Alain Billault, Sandrine Beaufils, Stéphane Bertrand, Isabelle Georges, et al. "Mapping the whole human genome by fingerprinting yeast artificial chromosomes." Cell 70, no. 6 (September 1992): 1059–68. http://dx.doi.org/10.1016/0092-8674(92)90254-a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

Rohrer, G. A., L. J. Alexander, and C. W. Beattie. "Mapping genes located on human chromosomes 2 and 12 to porcine chromosomes 15 and 5." Animal Genetics 28, no. 6 (December 1997): 448–50. http://dx.doi.org/10.1111/j.1365-2052.1997.00203.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

46

Werner, Petra, Michael G. Raducha, Ulana Prociuk, Paula S. Henthorn, and Donald F. Patterson. "Physical and Linkage Mapping of Human Chromosome 17 Loci to Dog Chromosomes 9 and 5." Genomics 42, no. 1 (May 1997): 74–82. http://dx.doi.org/10.1006/geno.1997.4723.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Freeman, GJ, CM Disteche, JG Gribben, DA Adler, AS Freedman, J. Dougery, and LM Nadler. "The gene for B7, a costimulatory signal for T-cell activation, maps to chromosomal region 3q13.3-3q21." Blood 79, no. 2 (January 15, 1992): 489–94. http://dx.doi.org/10.1182/blood.v79.2.489.489.

Full text

Abstract:

Abstract B7 is an activation antigen expressed on activated B cells and gamma- interferon-stimulated monocytes. The B7 antigen is the natural ligand for CD28 on T cells. After engagement of T-cell receptor with antigen in association with major histocompatibility complex class II, a second signal mediated through the binding of B7 to CD28 greatly upregulates the production of multiple lymphokines. We have now mapped the B7 gene to human chromosome 3 using the technique of polymerase chain reaction on a panel of hamster x human somatic cell hybrid DNAs. We have further localized the gene to 3q13.3–3q21 using in situ hybridization on human metaphase chromosomes. Trisomy of chromosome 3 is a recurrent chromosome change seen in various lymphomas and lymphoproliferative diseases, particularly diffuse, mixed, small, and large cell lymphomas, human T-cell lymphotropic virus type I-induced adult T-cell leukemia, and angioimmunoblastic lymphadenopathy. A number of chromosomal defects involving 3q21 have been described in acute myeloid leukemia and also in myelodysplastic and myeloproliferative syndromes. The mapping of B7 may permit further insight into disease states associated with aberrant lymphocyte activation and lymphokine synthesis.

APA, Harvard, Vancouver, ISO, and other styles

48

Freeman, GJ, CM Disteche, JG Gribben, DA Adler, AS Freedman, J. Dougery, and LM Nadler. "The gene for B7, a costimulatory signal for T-cell activation, maps to chromosomal region 3q13.3-3q21." Blood 79, no. 2 (January 15, 1992): 489–94. http://dx.doi.org/10.1182/blood.v79.2.489.bloodjournal792489.

Full text

Abstract:

B7 is an activation antigen expressed on activated B cells and gamma- interferon-stimulated monocytes. The B7 antigen is the natural ligand for CD28 on T cells. After engagement of T-cell receptor with antigen in association with major histocompatibility complex class II, a second signal mediated through the binding of B7 to CD28 greatly upregulates the production of multiple lymphokines. We have now mapped the B7 gene to human chromosome 3 using the technique of polymerase chain reaction on a panel of hamster x human somatic cell hybrid DNAs. We have further localized the gene to 3q13.3–3q21 using in situ hybridization on human metaphase chromosomes. Trisomy of chromosome 3 is a recurrent chromosome change seen in various lymphomas and lymphoproliferative diseases, particularly diffuse, mixed, small, and large cell lymphomas, human T-cell lymphotropic virus type I-induced adult T-cell leukemia, and angioimmunoblastic lymphadenopathy. A number of chromosomal defects involving 3q21 have been described in acute myeloid leukemia and also in myelodysplastic and myeloproliferative syndromes. The mapping of B7 may permit further insight into disease states associated with aberrant lymphocyte activation and lymphokine synthesis.

APA, Harvard, Vancouver, ISO, and other styles

49

Watson, M. L., S. F. Kingsmore, G. I. Johnston, M. H. Siegelman, M. M. Le Beau, R. S. Lemons, N. S. Bora, T. A. Howard, I. L. Weissman, and R. P. McEver. "Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1." Journal of Experimental Medicine 172, no. 1 (July 1, 1990): 263–72. http://dx.doi.org/10.1084/jem.172.1.263.

Full text

Abstract:

A structurally and functionally related group of genes, lymph node homing receptor (LHR), granule membrane protein 140 (GMP-140), and endothelial leukocyte adhesion molecule 1 (ELAM-1) are shown to constitute a gene cluster on mouse and human chromosome 1. In situ hybridization mapped GMP-140 to human chromosome 1 bands 21-24 consistent with chromosomal localization of LHR. Gene linkage analysis in the mouse indicated that these genes and serum coagulation factor V (FV) all map to a region of distal mouse chromosome 1 that is syntenic with human chromosome 1, with no crossovers identified between these four genes in 428 meiotic events. Moreover, long range restriction site mapping demonstrated that these genes map to within 300 kb in both the human and mouse genomes. These data suggest that LHR, ELAM-1, and GMP-140 comprise an adhesion protein family, the selectins, that arose by multiple gene duplication events before divergence of mouse and human. Furthermore, the location of these genes on mouse and human chromosome 1 is consistent with a close evolutionary relationship to the complement receptor-related genes, which also are positioned on the same chromosomes in both species and with which these genes share a region of sequence homology. These data characterize the organization of a genomic region that may be critical for intercellular communication within the immune system.

APA, Harvard, Vancouver, ISO, and other styles

50

Huttley, Gavin A., Michael W. Smith, Mary Carrington, and Stephen J. O’Brien. "A Scan for Linkage Disequilibrium Across the Human Genome." Genetics 152, no. 4 (August 1, 1999): 1711–22. http://dx.doi.org/10.1093/genetics/152.4.1711.

Full text

Abstract:

Abstract Linkage disequilibrium (LD), the tendency for alleles of linked loci to co-occur nonrandomly on chromosomal haplotypes, is an increasingly useful phenomenon for (1) revealing historic perturbation of populations including founder effects, admixture, or incomplete selective sweeps; (2) estimating elapsed time since such events based on time-dependent decay of LD; and (3) disease and phenotype mapping, particularly for traits not amenable to traditional pedigree analysis. Because few descriptions of LD for most regions of the human genome exist, we searched the human genome for the amount and extent of LD among 5048 autosomal short tandem repeat polymorphism (STRP) loci ascertained as specific haplotypes in the European CEPH mapping families. Evidence is presented indicating that ∼4% of STRP loci separated by <4.0 cM are in LD. The fraction of locus pairs within these intervals that display small Fisher’s exact test (FET) probabilities is directly proportional to the inverse of recombination distance between them (1/cM). The distribution of LD is nonuniform on a chromosomal scale and in a marker density-independent fashion, with chromosomes 2, 15, and 18 being significantly different from the genome average. Furthermore, a stepwise (locus-by-locus) 5-cM sliding-window analysis across 22 autosomes revealed nine genomic regions (2.2-6.4 cM), where the frequency of small FET probabilities among loci was greater than or equal to that presented by the HLA on chromosome 6, a region known to have extensive LD. Although the spatial heterogeneity of LD we detect in Europeans is consistent with the operation of natural selection, absence of a formal test for such genomic scale data prevents eliminating neutral processes as the evolutionary origin of the LD.

APA, Harvard, Vancouver, ISO, and other styles

Journal articles on the topic 'Mapping human chromosomes'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles