Relevant bibliographies by topics / Mapping human chromosomes

Academic literature on the topic 'Mapping human chromosomes'

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Published: 10 December 2022
Last updated: 28 January 2023

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Journal articles on the topic "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.

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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.

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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.
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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.

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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.
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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.

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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.
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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.

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

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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).
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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.

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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.
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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.

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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.
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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.

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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.
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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.

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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.
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Dissertations / Theses on the topic "Mapping human chromosomes"

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Laval, S. H. "Molecular analysis of mammalian sex chromosomes." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302954.

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Kedra, Darek. "Characterization of candidate disease genes from human chromosomes 11g13 and 22q /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3792-3/.

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Baker, Elizabeth Gay. "The mapping of human chromosomes by fluorescence in situ hybridization /." Title page, contents and summary only, 1996. http://web4.library.adelaide.edu.au/theses/09MSM/09msmb167.pdf.

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Thesis (M. Med. Sc.)--University of Adelaide, Dept. of Pediatrics and Dept. of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, 1996.
Copies of author's previously published articles inserted. Includes bibliographical references (leaves 122-142).
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Stephens, Sarah H. "Fine mapping of the chromosome 15q13-14 schizophrenia linkage region /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2008.

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Thesis (Ph.D. in Human Medical Genetics) -- University of Colorado Denver, 2008.
Typescript. Includes bibliographical references (leaves 112-128). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;
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Åkesson, Eva. "Genetic mapping and association analysis in multiple sclerosis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-174-1/.

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Wittwer, Pia Ethena. "Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome." Thesis, University of the Western Cape, 2004. http://etd.uwc.ac.za/index.php?module=etd&amp.

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The pattern of inactivation in the DXS8237E-UBE1-PCTK1 region is of particular interest, since the mechanisms of X chromosome inactivation and the escape from inactivation are, as yet, not fully understood. The inactivation status of the DXS8237E and PCTKl gene differ: the first undergoes normal inactivation and the second escapes this process. The status of the UBEl gene has been controversial, although it is widely excepted that it does escape X chromosome inactivation. Physical mapping of the region employing YACs and subsequently P ACs has been undertaken, but was restricted in scope by the high frequency of rearrangements occurring. DNA sequences between DXS8237E, UBE1, PCTKl and the distal gene, UHX1, have been investigated with regard to LINEI elements, which are thought to playa role in X-inactivation. The results obtained strongly suggest a link between LINE1 elements and X chromosome inactivation. Sequence analysis results also contributed to the understanding of difficulties with restriction mapping of the region. Further, this work includes the first reported establishment of the UBEl exonintron boundaries. Additionally, genomic sequence analysis showed that only 46kb separate DXS8237E from UHX1, which confirms that this region is extremely gene rich.
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Sundholm, James, and n/a. "Analysis of Specific Migraine Candidate Genes Mapping to Human Chromosome 1." Griffith University. School of Health Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20030829.153348.

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Migraine, comprised of migraine with aura (MA) and migraine without aura (MO), is a painful neurovascular disease, affecting approximately 16% of the general population. It is characterised by a wide variety of symptoms including headache, nausea and vomiting, and photo- and phonophobia. The disorder is complex involving not only multiple genes, but also specific environmental factors, which can induce attacks in genetically predisposed individuals. Hyperhomocysteinaemia is a known risk factor for cerebrovascular, peripheral vascular and coronary heart disease. The Methylenetetrahydrofolate Reductase (MTHFR) enzyme is involved in homocysteine metabolism. Furthermore, it has been reported that a homozygous mutation (677C to T; Ala to Val) in the 5,10-MTHFR gene is associated with an elevation in plasma homocysteine levels (Frosst et al., 1995). This common mutation in the MTHFR gene has recently been associated with migraine with aura in a Japanese cohort (Kowa et al., 2000). The present study was designed to determine the prevalence of the MTHFR C677T mutation in Australian patients with migraine and to determine whether this mutation is associated with the disease in Caucasians. A large case-control study, consisting of 270 patients with migraine (167 with aura and 103 without aura), and 270 normal matched controls was investigated. Genotypic results indicated that the prevalence of the homozygous (T/T) genotype in migraine sufferers (15%) was higher than that of controls (9%) (P = 0.084). Furthermore, the frequency of the mutant (T/T) genotype in individuals with MA (19%) was significantly higher than in controls (9%) (P = 0.006). Interestingly, the risk of MA was ~2.5-fold higher in suffers possessing the homozygous variant (OR = 2.52, CI: 1.42 - 4.47, P = 0.0012). To confirm the MTHFR allelic association with MA, family-based tests were performed in an independent pedigrees group, where only those with MA were considered affected. Results from both the Pedigree Disequilibrium Test (PDT) and Family-Based Association Test (FBAT) analysis revealed slight, although not significant (PDT test, P = 132; and FBAT test, P = 0.390), over-transmission of the mutant allele (T) from parents to affected offspring. However, despite the MTHFR variant having a high heterozygosity (0.48), there were a limited number of informative transmissions for the MTHFR variant in the pedigree group resulting in reduced power for these tests. In conclusion, our results support the trends reported in the Japanese migraine study and suggest that the homozygous 677T gene variant causing mild hyperhomocysteinaemia, is a genetic risk factor for migraine, and indicate that further studies investigating the role of this gene are warranted. Mutations in various ion channel genes are responsible for neurovascular and other neurological disorders. Inherited ion channel mutations or "channelopathies" are increasingly found to be the cause of various neurological disorders in humans. Wittekindt and colleagues (1998) reported that the calcium-activated potassium channel (hKCa3) gene is a good candidate for schizophrenia and bipolar disorder (BD), as well as for other neurological disorders such as migraine. The hKCa3 gene is a neuronal small conductance calcium-activated potassium channel, which contains a polyglutamine tract, encoded by a polymorphic CAG repeat in the gene. The hKCa3 gene encodes a protein of 731 amino acids containing two adjacent polyglutamine sequences in its N-terminal domain separated by 25 amino acids. The C-terminal polyglutamine sequence is highly polymorphic in length (Austin et al., 1999). hKCa3 plays a critical role in determining the firing pattern of neurons via the generation of slow after-polarization pulses and the regulation of intracellular calcium channels (Kohler et al., 1996). Three distinct mutations in the a1 calcium channel gene have been shown to cause SCA-6, episodic ataxia-2 and familial hemiplegic migraine (FHM) (Ophoff et al., 1996). The hKCa3 gene contains a highly polymorphic CAG repeat that was initially mapped (Chandy et al., 1997) to a schizophrenia locus on chromosome 22 (Pulver et al., 1994). Recently Austin et al (1999) re-mapped hKCa3 and found it to reside on chromosome 1q21, a region that has been linked to FHM (Austin et al., 1999), a rare subtype of MA (Ducros et al., 1997; Gardner et al., 1998), and a region recently showing genetic linkage to typical migraine (Lea et al., 2002). The hKCa3 polymorphism results in small variations in polyglutamine number, similar to those that occur in the calcium channel a1a subunit gene (CACNA1A), which is encoded by CAG expansions and thought to cause Spinocerebellar Ataxia Type 6 via loss of channel function (Austin et al., 1999). Given the recent linkage of FHM to the region of chromosome 1q21, to which hKCa3 resides, and also linkage of typical migraine to this region, a large case-control study investigating this hKCa3 CAG marker and consisting of 270 migraine and 270 stringently matched healthy controls was undertaken. Our results indicated that there was no statistically significant difference in allele distributions for this marker between migraine and non-migraine patients (P >0.05). No significant difference in the allelic distribution was observed in the MA or MO groups when compared to controls (P >0.05) and there was no significant difference in CAG repeat length distribution between the migraine group and controls (P = 0.92), or between the MA and MO groups (P = 0.72) collectively. Hence, the CAG repeat in this gene does not show expansion in migraine. Overall, our results provide no genetic evidence to suggest that the hKCa3 CAG repeat polymorphism is involved in migraine aetiology in Australian Caucasians. Thus the involvement of the hKCa3 gene in migraine is not likely, although the hKCa3 gene remains an important candidate for other neurological disorders that may be linked to the 1q21.3 chromosomal region.
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Holm, Sofia. "Molecular genetic studies of psoriasis susceptibility in 6p21.3 /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-225-X.

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Liu, Jian. "Deletion mapping of human 3P in major epithelial malignancies and fine localization of candidate tumor suppressor genes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-577-8/.

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Christoffels, Alan. "Generation of a human gene index and its application to disease candidacy." Thesis, University of the Western Cape, 2001. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2413_1185436829.

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With easy access to technology to generate expressed sequence tags (ESTs), several groups have sequenced from thousands to several thousands of ESTs. These ESTs benefit from consolidation and organization to deliver significant biological value. A number of EST projects are underway to extract maximum value from fragmented EST resources by constructing gene indices, where all transcripts are partitioned into index classes such that transcripts are put into the same index class if they represent the same gene. Therefore a gene index should ideally represent a non-redundant set of transcripts. Indeed, most gene indices aim to reconstruct the gene complement of a genome and their technological developments are directed at achieving this goal. The South African National Bioinformatics Institute (SANBI), on the other hand, embarked on the development of the sequence alignment and consensus knowledgebase (STACK) database that focused on the detection and visualisation of transcript variation in the context of developmental and pathological states, using all publicly available ESTs. Preliminary work on the STACK project employed an approach of partitioning the EST data into arbitrarily chosen tissue categories as a means of reducing the EST sequences to manageable sizes for subsequent processing. The tissue partitioning provided the template material for developing error-checking tools to analyse the information embedded in the error-laden EST sequences. However, tissue partitioning increases redundancy in the sequence data because one gene can be expressed in multiple tissues, with the result that multiple tissue partitioned transcripts will correspond to the same gene.


Therefore, the sequence data represented by each tissue category had to be merged in order to obtain a comprehensive view of expressed transcript variation across all available tissues. The need to consolidate all EST information provided the impetus for developing a STACK human gene index, also referred to as a whole-body index. In this dissertation, I report on the development of a STACK human gene index represented by consensus transcripts where all constituent ESTs sample single or multiple tissues in order to provide the correct development and pathological context for investigating sequence variation. Furthermore, the availability of a human gene index is assessed as a diseasecandidate gene discovery resource. A feasible approach to construction of a whole-body index required the ability to process error-prone EST data in excess of one million sequences (1,198,607 ESTs as of December 1998). In the absence of new clustering algorithms, at that time, we successfully ported D2_CLUSTER, an EST clustering algorithm, to the high performance shared multiprocessor machine, Origin2000. Improvements to the parallelised version of D2_CLUSTER included: (i) ability to cluster sequences on as many as 126 processors. For example, 462000 ESTs were clustered in 31 hours on 126 R10000 MHz processors, Origin2000. (ii) enhanced memory management that allowed for clustering of mRNA sequences as long as 83000 base pairs. (iii) ability to have the input sequence data accessible to all processors, allowing rapid access to the sequences. (iv) a restart module that allowed a job to be restarted if it was interrupted. The successful enhancements to the parallelised version of D2_CLUSTER, as listed above, allowed for the processing of EST datasets in excess of 1 million sequences. An hierarchical approach was adopted where 1,198,607 million ESTs from GenBank release 110 (October 1998) were partitioned into "
tissue bins"
and each tissue bin was processed through a pipeline that included masking for contaminants, clustering, assembly, assembly analysis and consensus generation. A total of 478,707 consensus transcripts were generated for all the tissue categories and these sequences served as the input data for the generation of the wholebody index sequences. The clustering of all tissue-derived consensus transcripts was followed by the collapse of each consensus sequence to its individual ESTs prior to assembly and whole-body index consensus sequence generation. The hierarchical approach demonstrated a consolidation of the input EST data from 1,198607 ESTs to 69,158 multi-sequence clusters and 162,439 singletons (or individual ESTs). Chromosomal locations were added to 25,793 whole-body index sequences through assignment of genetic markers such as radiation hybrid markers and gé
né
thon markers. The whole-body index sequences were made available to the research community through a sequence-based search engine (http://ziggy.sanbi.ac.za/~alan/researchINDEX.html).

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Books on the topic "Mapping human chromosomes"

1

James, Louise Anne. Physical mapping on human chromosome 3 using yeast artificial chromosomes. Manchester: University of Manchester, 1994.

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Gindilis, V. M. Genomnai͡a︡ ėnt͡s︡iklopedii͡a︡ cheloveka: Katalog-spravochnik kartirovannykh genov. Moskva: [s.n.], 1991.

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Science Writers Workshop on Biotechnology and the Human Genome (1987 Brookhaven National Laboratory). Biotechnology and the human genome: Innovations and impact. Edited by Woodhead Avril D and Barnhart Benjamin J. New York: Plenum Press, 1988.

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Jamie, Cuticchia A., Pearson P. L, National Center for Human Genome Research (U.S.), and International Workshop on Human Gene Mapping (11th : 1992 : Johns Hopkins Medical School), eds. Chromosome Coordinating Meeting 1992 (CCM92): Baltimore conference (1992) : update to the Eleventh International Workshop on Human Gene Mapping. Basel: Karger, 1993.

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The genome. New York, N.Y: VCH Publishers, 1990.

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Jean, Frézal, Klinger Harold P. 1929-, and March of Dimes Birth Defects Foundation., eds. Human gene mapping, 9: Paris Conference (1987), Ninth International Workshop on Human Gene Mapping at the University of Paris, Faculté de Médecine, France, September 6-11, 1987. Basel: Karger, 1987.

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1942-, Canter Charles R., ed. Biotechnology and human genetic predisposition to disease: Proceedings of a UCLA symposium held at Steamboat Springs, Colorado, March 27-April 3, 1989. New York: Wiley-Liss, 1990.

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T, Strachan, and Dover G. A, eds. Human genome evolution. Oxford, England: BIOS, 1996.

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1939-, Read Andrew P., ed. Molecular basis of inherited disease. 2nd ed. Oxford: IRL Press at Oxford University Press, 1992.

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Davies, K. E. Molecular basis of inherited disease. Oxford: IRL Press, 1988.

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Book chapters on the topic "Mapping human chromosomes"

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Miller, Orlando J., and Eeva Therman. "Mapping Human Chromosomes." In Human Chromosomes, 431–46. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_29.

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Therman, Eeva. "Mapping of Human Chromosomes." In Human Chromosomes, 282–93. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8_28.

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Therman, Eeva, and Millard Susman. "Mapping of Human Chromosomes." In Human Chromosomes, 331–47. New York, NY: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4684-0529-3_31.

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Evans, Glen A., and David L. McElligott. "Physical Mapping of Human Chromosomes." In Genetic Engineering, 269–78. Boston, MA: Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3424-2_15.

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Ferguson-Smith, M. A. "From Chromosome Number to Chromosome Map: the contribution of human cytogenetics to genome mapping." In Chromosomes Today, 3–19. Dordrecht: Springer Netherlands, 1993. http://dx.doi.org/10.1007/978-94-011-1510-0_1.

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Hameister, H., C. Klett, G. Hartmann, and C. Ebensperger. "Comparative Gene Mapping: Human Chromosome 12 and Mouse Chromosome 15." In Chromosome 12 Aberrations in Human Solid Tumors, 73–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-662-06255-5_9.

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Nance, Martha A., and Lawrence J. Schut. "Dominant Olivopontocerebellar Atrophy Mapping to Human Chromosome 6p." In Foundations of Neurology, 425–41. Boston, MA: Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3510-2_17.

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Zhang, J., M. Baens, M. Chaffanet, J. Aerssens, J. J. Cassiman, and P. Marynen. "Isolation and Characterisation of NotI-end Cosmids Mapping to Human Chromosome 12p." In Chromosome 12 Aberrations in Human Solid Tumors, 173–80. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-662-06255-5_17.

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Scott, H. S., S. E. Antonarakis, L. Mittaz, M. D. Lalioti, F. Younus, A. Mohyuddin, S. Q. Mehdi, and A. Gal. "Refined Genetic Mapping of the Autosomal Recessive Non-Syndromic Deafness Locus DFNB8 on Human Chromosome 21q22.3." In Advances in Oto-Rhino-Laryngology, 158–63. Basel: KARGER, 2000. http://dx.doi.org/10.1159/000059096.

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Grigoriev, Andrei, Johan Kumlien, and Hans Lehrach. "Integrating heterogeneous datasets in genomic mapping: Radiation hybrids, YACs, genes and STS markers over the entire human chromosome X." In Bioinformatics, 106–14. Berlin, Heidelberg: Springer Berlin Heidelberg, 1996. http://dx.doi.org/10.1007/bfb0033209.

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Conference papers on the topic "Mapping human chromosomes"

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Huber, P., J. Dalmon, M. Laurent, G. Courtois, D. Thevenon, and G. Marguerie. "CHARACTERIZATION OFTHE 5’FLANKING REGION FOR THE HUMAN FIBRINOGEN β GENE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1642889.

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Fibrinogen is coded by three separate genes located in a 50kb region of chromosome 4 and organized in a α - β - γ orientation with an inversion of the gene 3- A human genomic library was constructed using the EMBL4 phage and screened with cDNA probes coding for human fibrinogen Aα, Bβ and γ chains. Clones, covering the fibrinogen locus,were identified, and their organization was analyzed by means of hybridization and restriction mapping. Among these clones one recombinant phage containing the β gene and large 5’ and 3’ -flanking sequences was isolated.To identify the regulatory sequences Dpstream from the human β gene, a 1.5 kb fragment of the immediate 5’-flanking region was sequenced. The SI mapping experiments revealed three transcription initiation sites. PotentialTATA and CAAT sequences were identified upstream the initiation start points at the positions -21 and -58 from the first initiation start point.Comparison of this sequence with that previously reported for the same region upstream from the human γ gene revealed no significant homology which suggests that the potential promoting sequences of these genes are different. In contrast, comparison of the 5’flanking regions of human and rat β genes showed more than 80% homology for 142 bp upstream from the gene. This highly conserved region is a potential candidate for a regulatory sequence of the human β gene.To verify this activity, a β fibrinogen minigene was constructed by deletion of the internal part of the normal gene and including 3.4kb of the 5’flanking region and 1.4kb of the 3’flanking region. The minigene was transfected into HepG2, a human hepatoma cell line, to show whether the 5’flanking region of the human fibrinogen gene contains DNA sequences sufficient for efficient transcription in HepG2. Constructions of several parts of the sequenced 5’flanking region of the human β gene with the gene of the chloramphenical acetyl transferase have been also transfected in the HepG2 cells to determine the specificity of the gene expression and to localize the sequences controlling the transcription of the gene.
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Mills, Alea A. "Abstract IA-1: From chromosome engineering to chromatin remodeler: CHD5 is a tumor suppressor mapping to human 1p36." In Abstracts: First AACR International Conference on Frontiers in Basic Cancer Research--Oct 8–11, 2009; Boston MA. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.fbcr09-ia-1.

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Ploos van Amstel, J. K., A. L. van der Zanden, P. H. Reitsma, and R. M. Bertina. "RESTRICTION ANALYSIS AND SOUTHERN BLOTTING OF TOTAL HUMAN DNA REVEALS THE EXISTENCE OF MORE THAN ONE GENE HOMOLOGOUS WITH PROTEIN S cDNA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644639.

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A deficiency in protein S, the cofactor of activated protein C, is associated with an increased risk for the development of venous thrombosis. It is inherited as an autosomal dominant disorder. To improve the detection of heterozygotes in affected families, we have started to search for restriction fragment length polymorphism (RFLP) in the protein S gene. This study revealed the existence of two genes containing sequences homologous to protein S cDNA.Three non-overlapping fragments of clone pSUL5, which codes for the carboxy-terminal part of protein S and contains the complete 3' untranslated region, were isolated and used as probes in search for RFLP of the protein S gene.Surprisingly the non-overlapping probes shared more than one hybridizing band. The hybridization took place under stringent assay conditions.This observation is contradictory to the intron-exon organization of a gene and suggests the existence of two genes, containing sequences homologous with pSUL5. Both genes could be assigned to chromosome 3 by mapping through somatic cell hybrids. Whether two functional protein S genes are present in the human genome remains to be established.
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Pannekoek, H., M. Linders, J. Keijer, H. Veerman, H. Van Heerikhuizen, and D. J. Loskutoff. "THE STRUCTURE OF THE HUMAN ENDOTHELIAL PLASMINOGEN ACTIVATOR INHIBITOR (PAI-1) GENE: NON-RANDOM POSITIONING OF INTRONS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644767.

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The endothelium plays a crucial role in the regulation of the fibrinolytic process, since it synthesizes and secretes tissue-type plasminogen activator (t-PA) as well as the fast-acting plasminogen activator inhibitor (PAI-1). Molecular cloning of full-length PAI-1 cDNA, employing a human endothelial cDNA expression library, and a subsequent determination of the complete nucleotide sequence, allowed a prediction of the amino-acid sequence of the PAI-1 glycoprotein. It was observed that the amino-acid sequence is significantly homologous to those of members of the serine protease inhibitor ("Serpin") family, e.g. αl-antitrypsin and antithrombin III. Serpins are regulators of various processes, such as coagulation, inflammatory reactions, complement activation and share a common functional principle and a similar structure, indicative for a common primordial gene. The intron-exon arrangement of Serpin genes may provide a record for the structure of a primordial gene. A comparison of the location of introns among members of the Serpin family reveals that some introns are indeed present at identical or almost identical positions, however in many other cases there is no correspondence between the intron positions among different Serpin genes.Obviously, more data on the chromosomal gene structure of members of this family are required to formulate a scheme for the evolutionary creation of the Serpins. To that end, we have established the number and the precise location of the introns in the PAI-1 gene and have compared these data with those reported on other Serpin genes. For that purpose a human genomic cosmid DNA library of about 340.000 independent colonies was screened with radiolabelled full-length PAI-1 cDNA as probe. Two clones were found which contain the entire PAI-1 gene. Restriction site mapping, electron microscopic inspection of heteroduplexes and nucleotide sequence analysis demonstrate that the PAI-1 gene comprises about 12.2kilo basepairs and consists of nine exons and eight introns. Intron-exon boundaries are all in accord with the "GT-AG" rule, including a cryptic acceptor splice site found in intron 7. Furthermore, it is observed that intron 3 of the PAI-1 gene occupies an identical position as intron E of chicken ovalbumin and intron E of the ovalbumin-related gene Y. The location of the other seven introns is unrelated to the known location of introns in the genes encoding the Serpins, rat angiotensin, chicken ovalbumin (and gene Y), human antithrombin III and human al-antitrypsin. The 3' untranslated region of the PAI-1 gene is devoid of introns, indicating that the two mRNA species detected in cultured endothelial cells which share an identical 5' untranslated segment and codogenic region, but differ in the length of the 3' untranslated region, arise by alternative polyadenylation. An extrapolation of the position of the introns to the amino-acid sequence of PAI-1, and adaption of the view that the subdomain structure of the Serpins is analogous, shows that the introns of PAI-1 are non-randomly distributed. Except for intron 7, the position of the other seven introns corresponds with randon-coil regions of the protein or with the borders of β-sheets and a-helices. Extrapolation of the position of introns in the genes of other Serpins to their respective amino-acid sequences and subdomain structures also reveals a preference for random-coil regions and borders of subdomains. These observations are reminiscent of an evolutionary model, called "intron sliding", that accounts for variations in surface loops of the same protein in different species by aberrant splicing (Craik et al., Science 220 (1983) 1125). The preferential presence of introns in gene segments, encoding these variable regions, and absence in regions determining the general folding of these proteins would explain conservation of the structure during the evolution of those genes.
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Reports on the topic "Mapping human chromosomes"

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Antonarakis, S. E. Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs. Office of Scientific and Technical Information (OSTI), September 1991. http://dx.doi.org/10.2172/6397375.

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Antonarakis, S. E. Human chromosome 21: Linkage mapping and cloning in yeast artificial chromosomes. Office of Scientific and Technical Information (OSTI), January 1991. http://dx.doi.org/10.2172/6278130.

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Yu, Bin. Statistical Problems in Remote Sensing, Image Compression, and Mapping of Human Chromosomes. Fort Belvoir, VA: Defense Technical Information Center, May 2002. http://dx.doi.org/10.21236/ada413806.

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Feldman, Moshe, Eitan Millet, Calvin O. Qualset, and Patrick E. McGuire. Mapping and Tagging by DNA Markers of Wild Emmer Alleles that Improve Quantitative Traits in Common Wheat. United States Department of Agriculture, February 2001. http://dx.doi.org/10.32747/2001.7573081.bard.

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The general goal was to identify, map, and tag, with DNA markers, segments of chromosomes of a wild species (wild emmer wheat, the progenitor of cultivated wheat) determining the number, chromosomal locations, interactions, and effects of genes that control quantitative traits when transferred to a cultivated plant (bread wheat). Slight modifications were introduced and not all objectives could be completed within the human and financial resources available, as noted with the specific objectives listed below: 1. To identify the genetic contribution of each of the available wild emmer chromosome-arm substitution lines (CASLs) in the bread wheat cultivar Bethlehem for quantitative traits, including grain yield and its components and grain protein concentration and yield, and the effect of major loci affecting the quality of end-use products. [The quality of end-use products was not analyzed.] 2. To determine the extent and nature of genetic interactions (epistatic effects) between and within homoeologous groups 1 and 7 for the chromosome arms carrying "wild" and "cultivated" alleles as expressed in grain and protein yields and other quantitative traits. [Two experiments were successful, grain protein concentration could not be measured; data are partially analyzed.] 3. To derive recombinant substitution lines (RSLs) for the chromosome arms of homoeologous groups 1 and 7 that were found previously to promote grain and protein yields of cultivated wheat. [The selection of groups 1 and 7 tons based on grain yield in pot experiments. After project began, it was decided also to derive RSLs for the available arms of homoeologous group 4 (4AS and 4BL), based on the apparent importance of chromosome group 4, based on early field trials of the CASLs.] 4. To characterize the RSLs for quantitative traits as in objective 1 and map and tag chromosome segments producing significant effects (quantitative trait loci, QTLs by RFLP markers. [Producing a large population of RSLs for each chromosome arm and mapping them proved more difficult than anticipated, low numbers of RSLs were obtained for two of the chromosome arms.] 5. To construct recombination genetic maps of chromosomes of homoeologous groups 1 and 7 and to compare them to existing maps of wheat and other cereals [Genetic maps are not complete for homoeologous groups 4 and 7.] The rationale for this project is that wild species have characteristics that would be valuable if transferred to a crop plant. We demonstrated the sequence of chromosome manipulations and genetic tests needed to confirm this potential value and enhance transfer. This research has shown that a wild tetraploid species harbors genetic variability for quantitative traits that is interactive and not simply additive when introduced into a common genetic background. Chromosomal segments from several chromosome arms improve yield and protein in wheat but their effect is presumably enhanced when combination of genes from several segments are integrated into a single genotype in order to achieve the benefits of genes from the wild species. The interaction between these genes and those in the recipient species must be accounted for. The results of this study provide a scientific basis for some of the disappointing results that have historically obtained when using wild species as donors for crop improvement and provide a strategy for further successes.
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Sutherland, G. R. Physical mapping of human chromosome 16. Office of Scientific and Technical Information (OSTI), January 1992. http://dx.doi.org/10.2172/7236268.

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Connolly, Sarah. Mapping genes to human chromosome 19. Office of Scientific and Technical Information (OSTI), May 1996. http://dx.doi.org/10.2172/576741.

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7

Caskey, C., D. Nelson, and D. Ledbetter. Mapping and ordered cloning of the human X chromosome. Office of Scientific and Technical Information (OSTI), October 1989. http://dx.doi.org/10.2172/5518435.

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Caskey, C. T., and D. L. Nelson. Mapping and ordered cloning of the human X chromosome. Office of Scientific and Technical Information (OSTI), December 1992. http://dx.doi.org/10.2172/6387495.

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Sutherland, G. R. Physical mapping of human chromosome 16. Annual progress report. Office of Scientific and Technical Information (OSTI), August 1992. http://dx.doi.org/10.2172/10167242.

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Buenaventura, J. M. The mapping of novel genes to human chromosome 19. Office of Scientific and Technical Information (OSTI), December 1994. http://dx.doi.org/10.2172/96636.

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