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PubMed1989

Refined physical and genetic mapping of the NF1 region on chromosome 17.

A total of 15 polymorphic markers were used to construct a genetic map that encompasses the NF1 locus on chromosome 17. The markers were a subset of a large collection of chromosome 17-specific probes and were selected for marker typing in NF1 families after physical localization to the pericentric region of the chromosome. Multilocus data for a total of 17 informative NF1 families and 39 other families were included in genetic analyses. No recombination was observed between NF1 and four markers, one or more of which was informative in 86% of parents. More-refined physical mapping studies demonstrated that all four of the markers are proximal to the chromosome 17 translocation breakpoints from two NF1 patients bearing balanced translocations. The region flanking the disease locus spans a distance of 1 centimorgan (cM) in males and 9 cM in females. Close flanking markers were informative in 76% of meioses. Sex differences in recombination rates in the pericentric region were highly significant statistically.

Chromosomes, Human, Pair 17↗
PubMed2025

Exploring genetic mapping and co-expression patterns to illuminate significance of Tbx20 in cardiac biology.

The transcription factor Tbx20 is integral to heart development and plays a significant role in various cardiac diseases. Despite its established importance, the regulatory mechanisms and functional significance of Tbx20 remain incompletely understood. To elucidate these mechanisms, we initially conducted eQTL mapping to identify genetic loci associated with Tbx20 expression in heart tissue from BXD mice. Co-expression and enrichment analyses revealed pathways linked to Tbx20, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and FoxO signaling. Additionally, protein-protein interaction studies identified essential cardiac proteins, such as Myl2 and Myl7, along with upstream regulators like Mef2c. To validate our bioinformatic findings, we performed quantitative reverse transcription polymerase chain reaction (qRT-PCR) to assess the relative mRNA expression levels of TBX20 and Mef2c in the heart tissues of BXD mice compared to their parental strains (B6 and D2). Our results demonstrated significant up-regulation of both TBX20 and Mef2c in the BXD group relative to the parental strains. Conversely, both genes were down-regulated in B6, D2, Control, and Treatment groups when compared to BXD mice. These findings confirm the predicted regulatory roles of TBX20 and Mef2c in cardiac development as suggested by our initial analyses.This study not only reinforces the critical role of Tbx20 in cardiac gene regulation but also highlights its potential as a therapeutic target for cardiovascular disorders. Further investigations into Tbx20 and its interactions will enhance our understanding of heart biology and contribute to the development of targeted therapies for heart diseases.

Animals↗
PubMed1995

Physical and genetic map of the chromosome of the unicellular cyanobacterium Synechocystis sp. strain PCC 6803.

A combined physical and genetic map of the cyanobacterium Synechocystis sp. strain PCC 6803 chromosome was constructed. An estimated genome size of 3.82 Mb was obtained by summing the sizes of 25 MluI or 40 NotI fragments seen by pulsed-field electrophoresis. The order of the restriction fragments was determined by using two independent experimental approaches: pulsed-field fragment hybridization and linking clone analysis. The relative positions of 30 known genes or gene clusters were localized.

Cloning, Molecular↗
PubMed1989

RFLP-based genetic map of Phanerochaete chrysosporium ME446: lignin peroxidase genes occur in clusters.

We describe the construction of an RFLP-based genetic map of the white rot fungus Phanerochaete chrysosporium ME446. The map is deduced from the allele distributions of 38 RFLP markers in a test set of 53 meiotically derived haploid recombinants of this strain. The map includes a cellulase gene, a matingtype locus and a family of lignin peroxidase (and related) genes that are arranged in two unlinked clusters.

Alleles↗
PubMed1995

Generation of a high-resolution genetic map and a YAC contig of the Lurcher locus on mouse chromosome 6.

Lurcher (Lc) is a semidominant mouse mutant that displays progressive neurodegeneration during perinatal development. This genetic lesion results in apoptotic neuronal death in a dosage dependent and cell autonomous manner in specific neurons during their terminal differentiation. To understand the molecular basis of the Lc mutation, we have adopted a positional cloning approach based on its location on mouse chromosome 6. To define the Lc locus, we have extended our previous analysis of an intersubspecific backcross between Mus m. castaneus and B6CBACa-Aw-j/A-Lc consisting of 504 animals (Norman et al. 1991). In addition, 580 animals of a generic backcross between Mus spretus and C57BL/6 (The European Collaborative Interspecific Backcross) were utilized for the fine genetic mapping of the Lc locus. Using three RFLP markers and nine microsatellite markers in the vicinity of the Lc locus, we determined the order and relative genetic distances of these markers at a resolution of 0.1 cM. The Lc mutation was mapped between two flanking markers, D6Mit121 and D6Mit175, separated by a genetic distance of 0.5 cM. We then initiated the cloning of the genomic region surrounding these two markers by screening a YAC library and characterizing YAC end sequences for further screening. This effort has resulted in the construction of a YAC contig consisting of 14 YACs and spanning a 3-Mb region. Markers isolated from these YACs were used to further define the Lc locus, resulting in a physical map that places the Lc gene within an estimated 300-kb interval. This set of YACs and markers will serve as DNA sources for the identification of the Lc gene.

Animals↗
PubMed1993

Identification and genetic mapping of the murine gene and 20 related sequences encoding chromosomal protein HMG-17.

HMG-17 is an abundant, nonhistone chromosomal protein that binds preferentially to nucleosomal core particles of mammalian chromatin. The human gene for HMG-17 has been localized to Chromosome (Chr) 1p, but the murine gene has not been previously mapped. Here we identify the murine functional gene, Hmg17, from among more than 25 related sequences (probably processed pseudogenes) and show that it is located on mouse Chr 4, in a region known to have conserved linkage relationships with human Chr 1p. We also report the map locations of 20 additional Hmg17-related sequences on mouse Chrs 1, 2, 3, 5, 7, 8, 9, 13, 15, 16, 17, 18, and X. The multiple, dispersed members of the Hmg17 multigene family can be detected efficiently with a single cDNA probe and provide useful markers for genetic mapping studies in mice.

Animals↗
PubMed1993

Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited familial cancer syndrome characterised by a predisposition to the development of retinal, cerebellar, and spinal haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. The gene for VHL disease has been mapped to chromosome 3p25-p26 and flanking markers identified. We report the detailed genetic mapping of the VHL disease locus in 38 families. Significant linkage was detected between VHL disease and D3S601 (Zmax = 18.86 at theta = 0.0, CI 0.0-0.025), D3S18 (Zmax = 11.42 at theta = 0.03, CI 0.005-0.08), RAF1 (Zmax = 11.02 at theta = 0.04, CI 0.007-0.01), and D3S1250 (Zmax = 4.73 at theta = 0.05, CI 0.005-0.15). Multipoint linkage analysis mapped the VHL disease locus between D3S1250 and D3S18 close to D3S601. There was no evidence of locus heterogeneity. This study has (1) confirmed the tight linkage between VHL disease and D3S601, (2) identified D3S1250 as the first marker telomeric to RAF1 which maps centromeric to the VHL disease gene, and (3) narrowed the target region for isolation of the VHL disease gene by positional cloning techniques to a 4 cM interval between D3S1250 and D3S18. These findings will improve the clinical management of families with VHL disease by improving the accuracy of presymptomatic diagnosis using linked DNA markers, and will enhance progress towards isolating the VHL disease gene.

Chromosome Mapping↗
PubMed1997

Superimposed histologic and genetic mapping of chromosome 17 alterations in human urinary bladder neoplasia.

Multistep alterations of chromosome 17 in the progression of human urinary bladder neoplasia were studied by superimposed histologic and genetic mapping. The p53 gene was included in the analysis as a model tumor suppressor gene that is frequently involved in urothelial carcinogenesis. The strategy provided a systematic approach to the study of multistep genomic alterations that occur as neoplasia progresses from precursor intraurothelial conditions to invasive cancer. This was accomplished by sampling the entire mucosa of the organ and displaying microscopically identified invasive cancer and precursor conditions in the form of a histologic map. Subsequent isolation of DNA provided a set of samples in which the search for genetic alterations was performed and superimposed on the histologic map. This approach disclosed multifocal allelic losses of chromosome 17 in the early preinvasive phases of urothelial neoplasia. The alterations were predominantly confined to the p12-13, q22-11 and q24-25 regions. Mutations and allelic losses of the p53 gene were mapped to early preinvasive phases of urothelial neoplasia. The data provide detailed analysis of chromosome 17 allelic losses that occur in the development and progression of urothelial neoplasia and represent the first step for genome-wide modeling of multistep human urothelial carcinogenesis.

Alleles↗
PubMed2001

Generation and exploration of a dense genetic map in a region of a QTL affecting corpora lutea in a Meishan x Yorkshire cross.

Previously genomic scans revealed quantitative trait loci (QTL) on porcine Chromosome 8 (SSC8) as significantly affecting the number of corpora lutea (CL) in swine. In one study, statistical evidence for the putative QTL was found in the chromosomal region defined by the microsatellites (MS) SW205, SW444, SW206, and SW29. A Yeast Artificial Chromosome library was screened by using the corresponding primers for clones containing these MS by PCR. From five positive YAC clones, 10 additional MS were isolated and mapped to SSC8 with the INRA-University of Minnesota porcine Radiation Hybrid (IMpRH) panel. The genetic map position of the QTL has been refined by addition of these 10 markers. The QTL evaluation included pedigrees of F2-intercross Meishan x Yorkshire design, with phenotypic data of 108 F2 female offspring and genotypic data for 29 MS markers on SSC8. The analysis was performed by using the least squares regression method. The calculated QTL effect for CL obtained by the multilocus least squares method showed a maximum test statistic (F value = 13.98) at position 99 cM between three MS derived from YACs containing SW205 and SW1843 spanning an interval of 7.1 cM. The point-wise (nominal) P-value was 5.21 x 10-6 corresponding to a genome-wide P-value of 0.009. The additive QTL effect explained 17.4% of the phenotypic variance.

Animals↗
PubMedDate not supplied

Soybean genetic map of RAPD markers assigned to an existing scaffold RFLP map.

A 356-marker linkage map of Glycine max (L.) Merr. (2n = 20) was established by anchoring 106 RAPD markers to an existing RFLP map built with a large recombinant inbred line population (330 RILs). This map comprises 24 major and 11 minor linkage groups for this genome which is estimated to be approximately 3,275 cM. The RAPD markers show similar distribution throughout the genome and identified similar levels of polymorphism as the RFLP markers used in the framework. By using a subset population to anchor the RAPD markers, it was possible to enhance the throughput of selecting and adding reliable marker loci to the existing map. The procedures to generate a dependable genetic linkage map are also described in this report.

Chromosome Mapping↗
PubMed2005

Genetic mapping of Z chromosome and identification of W chromosome-specific markers in the silkworm, Bombyx mori.

In the silkworm, Bombyx mori, the female is the heterogametic (ZW) sex and the male is homogametic (ZZ). The female heterogamety is a typical situation in the insect order Lepidoptera. Although the W chromosome in silkworm is strongly female determining, no W-linked gene for a morphological character has been found on it. The Z chromosome carries important traits of economic value as well as genes for various phenotypic traits, but only 2% of molecular information based on its relative size is known. Studies conducted so far indicate that the Z-linked genes are not dosage compensated. In the present study, we constructed a genetic map of randomly amplified polymorphic DNA fragments (RAPD), simple sequence repeats (SSR), and fluorescent intersimple sequence repeat PCR (FISSR) markers for the Z chromosome using a backcross mapping population. A total of 16 Z-linked markers were identified, characterized, and mapped using od, a recessive trait for translucent skin as an anchor marker yielding a total recombination map of 334.5 cM. The linkage distances obtained suggested that the markers were distributed throughout the Z chromosome. Four RAPD and four SSR markers that were linked to W chromosome were also identified. The proposed mapping approach should be useful to identify and map sex-linked traits in the silkworm. The economic and evolutionary significance of Z- and W-linked genes in silkworm, in particular, and lepidopterans, in general, is discussed.

Animals↗
PubMed2004

Physical and genetic map of the Weissella paramesenteroides DSMZ 20288T chromosome and characterization of different rrn operons by ITS analysis.

The Weissella paramesenteroides DSMZ 20288T chromosome was analysed by pulsed-field gel electrophoresis, enabling the construction of a physical and genetic map. A total of 21 recognition sites of the restriction enzymes AscI, I-CeuI, NotI and SfiI were mapped on the chromosome, which was found to be circular with an estimated size of 2026 kb. This is believed to constitute the first study into the genomic organization of a strain of this genus, addressing the localization of important chromosomal regions such as oriC and terC. A total of 23 genetic markers were mapped, including eight rrn operons that were precisely assigned in 37 % of the W. paramesenteroides chromosome. The transcription direction of rrn loci was determined and three different rrn clusters were recognized regarding the presence/absence of tRNA genes in ITS regions.

Chromosomes, Bacterial↗
PubMed2002

[The microsatellite polymorphism research on porcine chromosome 1 and the construction of its genetic map].

As a molecular marker,microsatellite has many advantages such as high polymorphism and good conservativeness in animal genetic research. The study chose 8 microsatellite markers that evenly distributed on chromosome 1 with a distance about 20 cM to build the genetic map of porcine chromosome 1. The results of our experiment are as follows:the number of alleles for 8 markers is 2 to 5,their gene frequency is from 0.015 to 0.75,the heterozygosity is from 0.39705 to 0.67675 and the polymorphic information content is from 0.32925 to 0.59316. The map we built is basically in consistent with the result of USDA and can be used in searching quantitative traits loci in pigs.

English Abstract↗
PubMed1991

[Genetic mapping of genes regulating synthesis of acid phosphatases in the yeast Saccharomyces cerevisiae of the Peterhoff yeast collection].

Genetic mapping of yeast genes ACP5, acp83 and ACP82 was performed. According to the results obtained, ACP5 and acp83 are located in the chromosome VI and ACP82--in the chromosome XVI. Based on identity of chromosome location and phenotypes of mutations arising, it was proposed that ACP5 and acp83 are homologous to PHO4 and pho82 genes, respectively, and ACP82--to PHO85 in the yeasts of the same line.

Acid Phosphatase↗
PubMed1999

Genetic mapping of the embryonal carcinoma transplantation resistance locus Gt(B6) to mouse Chromosome 8.

Cytotoxic T lymphocytes play a predominant role in allograft rejection. They mediate this process through recognition of foreign major histocompatibility complex (MHC) class I surface molecules encoded at the H2 locus. Embryonal carcinoma cells, the undifferentiated, neoplastic derivatives of primordial germ cells, typically lack detectable MHC class I gene expression. Despite this, embryonal carcinoma cells are subject to allograft rejection in several different mouse strains. In many instances, the H2 locus appears to be genetically linked to resistance. However, rejection of allografts of the F9 embryonal carcinoma cell line, a nullipotent cell line derived from the 129 mouse strain, does not appear to be H2-linked. Resistance to F9 tumor formation in the C57BL/6 mouse strain has been attributed to a single, unidentified locus termed Gt(B6). To genetically map the Gt(B6) locus, a total of 463 (C57BL/6x129)F2 mice were challenged with F9 cells, and 78 tumor-resistant mice were identified. Markers encompassing two candidate regions, the H2 locus on Chromosome (Chr) 17 and a second candidate locus on Chr 2, showed no indication of linkage to the resistance phenotype. Instead, results of a genome wide scan implicated mouse Chr 8, and evidence is presented demonstrating that the Gt(B6) locus maps to a region of less than 10 cM on the medial portion of Chr 8.

Animals↗
PubMed1988

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115). DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs. DXS105 is 8% recombination closer to the fragile-X locus than F9 (z[theta] = 14.6 at theta = .08 for the F9-DXS105 linkage) and should thus be a better marker for analysis of fragile-X families. However, the DXS105 locus appears to be still loosely linked to the fragile-X locus in some families. The multipoint estimation for recombination between DXS105 and FRAXA is .16 in our set of data. Our data indicate that the region responsible for the heterogeneity in recombination between F9 and the fragile-X locus is within the DXS105-FRAXA interval.

Chromosome Mapping↗
PubMed2005

Evolutionary history of Silene latifolia sex chromosomes revealed by genetic mapping of four genes.

The sex chromosomes of dioecious white campion, Silene latifolia (Caryophyllaceae), are of relatively recent origin (10-20 million years), providing a unique opportunity to trace the origin and evolution of sex chromosomes in this genus by comparing closely related Silene species with and without sex chromosomes. Here I demonstrate that four genes that are X-linked in S. latifolia are also linked in nondioecious S. vulgaris, which is consistent with Ohno's (1967) hypothesis that sex chromosomes evolve from a single pair of autosomes. I also report a genetic map for four S. latifolia X-linked genes, SlX1, DD44X, SlX4, and a new X-linked gene SlssX, which encodes spermidine synthase. The order of the genes on the S. latifolia X chromosome and divergence between the homologous X- and Y-linked copies of these genes supports the "evolutionary strata" model, with at least three consecutive expansions of the nonrecombining region on the Y chromosome (NRY) in this plant species.

Chromosome Mapping↗