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Linkage mapping in tetraploid willows: segregation of molecular markers and estimation of linkage phases support an allotetraploid structure for Salix alba x Salix fragilis interspecific hybrids.

Salix alba-Salix fragilis complex includes closely related dioecious polyploid species, which are obligate outcrossers. Natural populations of these willows and their hybrids are represented by a mixture of highly heterozygous genotypes sharing a common gene pool. Since nothing is known about their genomic constitution, tetraploidy (2n=4x=76) in willow species makes basic and applied genetic studies difficult. We have used a two-way pseudotestcross strategy and single-dose markers (SDMs) to construct the first linkage maps for both pistillate and staminate willows. A total of 242 amplified fragment length polymorphisms (AFLPs) and 50 selective amplifications of microsatellite polymorphic loci (SAMPL) markers, which showed 1:1 segregation in the F(1) mapping populations, were used in linkage analysis. In S. alba, 73 maternal and 48 paternal SDMs were mapped to 19 and 16 linkage groups covering 708 and 339 cM, respectively. In S. fragilis, 13 maternal and 33 paternal SDMs were mapped in six and 14 linkage groups covering 98 and 321 cM, respectively. For most cosegregation groups, a comparable number of markers linked in coupling and repulsion was identified. This finding suggests that most of chromosomes pair preferentially as occurs in allotetraploid species exhibiting disomic inheritance. The detection of 10 pairs of marker alleles from single parents showing codominant inheritance strengthens this hypothesis. The fact that, of the 1122 marker loci identified in the two male and female parents, the vast majority (77.5%) were polymorphic and as few as 22.5% were shared between parental species highlight that S. alba and S. fragilis genotypes are differentiated. The highly difference between S. alba- and S. fragilis-specific markers found in both parental combinations (on average, 65.3 vs 34.7%, respectively) supports the (phylogenetic) hypothesis that S. fragilis is derived from S. alba-like progenitors.

Chromosome Mapping↗

Developing microsatellite markers from cDNA: a tool for adding expressed sequence tags to the genetic linkage map of the chicken.

A chicken embryonic cDNA library was screened with a (TG)13 probe in order to develop polymorphic microsatellite markers. The redundancy of the embryonic cDNA library with a chicken brain cDNA library, which was used for microsatellite development in a previous study, was extremely high. Of the 300 (TG)13 positive clones, only 80 were unique for the embryonic cDNA library. Still, nine expressed sequences derived from the embryonic cDNA library were mapped in the Wageningen (WAU) resource population. In addition seven microsatellite markers from the chicken brain cDNA library, which were monomorphic or unlinked in the two international reference families in the previous study, were also mapped in the WAU population. Three of the 16 mapped chicken expressed sequence tags (ESTs) showed relatively high percentages of sequence similarity to sequences found in other species. As two of these genes, RAB6 and ZFX/ZFY, have been mapped in humans, they contribute to the comparative map of the chicken.

Animals↗

Genetic control of oil content in oilseed rape (Brassica napus L.).

In oilseed rape (Brassica napus L.) like in most oleaginous crops, seed oil content is the main qualitative determinant that confers its economic value to the harvest. Increasing seed oil content is then still an important objective in oilseed rape breeding. In the objective to get better knowledge on the genetic determinism of seed oil content, a genetic study was undertaken in two genetic backgrounds. Two populations of 445 and a 242 doubled haploids (DH) derived from the crosses "Darmor-bzh" x "Yudal" (DY) and "Rapid" x "NSL96/25" (RNSL), respectively, were genotyped and evaluated for oil content in different trials. QTL mapping in the two populations indicate that additive effects are the main factors contributing to variation in oil content. A total of 14 and 10 genomic regions were involved in seed oil content in DY and RNSL populations, respectively, of which five and two were consistently revealed across the three trials performed for each population. Most of the QTL detected were not colocalised to QTL involved in flowering time. Few epistatic QTL involved regions that carry additive QTL in one or the other population. Only one QTL located on linkage group N3 was potentially common to the two populations. The comparisons of the QTL location in this study and in the literature showed that: (i) some of the QTL were more consistently revealed across different genetic backgrounds. The QTL on N3 was revealed in all the studies and the QTL on N1, N8 and N13 were revealed in three studies out of five, (ii) some of the QTL were specific to one genetic background with potentially some original alleles, (iii) some QTL were located in homeologous regions, and (iv) some of the regions carrying QTL for oil content in oilseed rape and in Arabidopsis could be collinear. These results show the possibility to combine favourable alleles at different QTL to increase seed oil content and to use Arabidopsis genomic data to derive markers for oilseed rape QTL and identify candidate genes, as well as the interest to combine information from different segregating populations in order to build a consolidated map of QTL involved in a specific trait.

Agriculture↗

Approaching the self-incompatibility locus Z in rye (Secale cereale L.) via comparative genetics.

Using barley and wheat expressed sequence tags as well as rice genomic sequence and mapping information, we revisited the genomic region encompassing the self-incompatibility (SI) locus Z on rye chromosome 2RL applying a comparative approach. We were able to arrange 12 novel sequence-tagged site (STS) markers around Z, spanning a genetic distance of 32.3 cM, with the closest flanking markers mapping at a distance of 0.5 cM and 1.0 cM from Z, respectively, and one marker cosegregating with Z, in a testcross population of 204 progeny. Two overlapping rice bacterial artifical chromosomes (BACs), OSJNBa0070O11 and OSJNBa0010D21, were found to carry rice orthologs of the three rye STS markers from the 1.5-cM interval encompassing Z. The STS-marker orthologs on these rice BACs span less than 125,000 bp of the rice genome. The STS marker TC116908 cosegregated with Z in a mapping population and revealed a high degree of polymorphism among a random sample of rye plants of various origin. TC116908 was shown via Southern hybridization to correspond to gene no. 10 (OSJNBa0070O11.10) on rice BAC OSJNBa0070O11. Reverse transcription-PCR with a TC116908-specific primer pair resulted in the amplification of a fragment of the expected size from the rye pistil but not from leaf cDNA. OSJNBa0070O11.10 was found to show a highly significant sequence similarity to AtUBP22, a ubiquitin-specific protease (UBP). TC116908 likely represents a putative UBP gene that is specifically expressed in rye pistils and cosegregates with Z. Given that the ubiquitination of proteins is emerging as a general mechanism involved in different SI systems of plants, TC116908 appears to be a promising target for further investigation with respect to its relation to the SI system of the grasses.

Blotting, Southern↗

Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients.

Alzheimer's disease (AD) is a complex neurodegenerative disorder, for which several disease-associated loci have been located on different chromosomes. We have used a population-based linkage disequilibrium mapping approach in order to find potential AD-associated loci on chromosome 13. To avoid population stratification, late onset AD patients and age-matched controls were carefully chosen from the same geographical area in Eastern Finland, where the population is mainly descended from a small group of original founders. During the initial screening with chromosome 13-specific microsatellite markers, tetranucleotide marker D13S787 was found to be in linkage disequilibrium in the 13q12 region. Screening this region with additional microsatellite markers revealed that marker D13S292 was also significantly associated with AD. Stratification of the AD patients and controls into groups according to apolipoprotein E, sex, and familial/sporadic status indicated that the 13q12 locus was associated with female familial AD patients regardless of ApoE genotype. Based on the physical data from the region 13q12, markers D13S292 and D13S787 were estimated to reside in a 810kb long YAC clone 754h7 together with two infant brain-derived ESTs and the H,K-ATPase alpha-subunit protein gene (ATP1AL1). The localisation of these sequences at the linkage disequilibrium region suggests that they may be candidate genes involved in a sex-specific effect during development of AD.

Age of Onset↗

The U.S. EPA Geographic Information System for mapping environmental releases of Toxic Chemical Release Inventory (TRI) chemicals.

This study characterizes the environmental releases of toxic chemicals of the Toxic Chemical Release Inventory (TRI) in the southeastern United States by using the U.S. Environmental Protection Agency (EPA) Geographic Information System (GIS) to map them. These maps show that the largest quantities of TRI releases in the Southeast are usually near densely populated areas. This GIS mapping approach takes the first steps in defining those areas in the region which may be potential exposure zones and which could be strategic targets for future risk screening efforts in this geographic area.

Animals↗

A molecular marker map in 'Kanota' x 'Ogle' hexaploid oat (Avena spp.) enhanced by additional markers and a robust framework.

Molecular mapping of cultivated oats was conducted to update the previous reference map constructed using a recombinant inbred (RI) population derived from Avena byzantina C. Koch cv. Kanota x Avena sativa L. cv. Ogle. In the current work, 607 new markers were scored, many on a larger set of RI lines (133 vs. 71) than previously reported. A robust, updated framework map was developed to resolve linkage associations among 286 markers. The remaining 880 markers were placed individually within the most likely framework interval using chi2 tests. This molecular framework incorporates and builds on previous studies, including physical mapping and linkage mapping in additional oat populations. The resulting map provides a common tool for use by oat researchers concerned with structural genomics, functional genomics, and molecular breeding.

Avena↗

Population dynamics advected by chaotic flows: A discrete-time map approach.

A discrete-time model of reacting evolving fields, transported by a bidimensional chaotic fluid flow, is studied. Our approach is based on the use of a Lagrangian scheme where fluid particles are advected by a two-dimensional symplectic map possibly yielding Lagrangian chaos. Each fluid particle carries concentrations of active substances which evolve according to its own reaction dynamics. This evolution is also modeled in terms of maps. Motivated by the question, of relevance in marine ecology, of how a localized distribution of nutrients or preys affects the spatial structure of predators transported by a fluid flow, we study a specific model in which the population dynamics is given by a logistic map with space-dependent coefficient, and advection is given by the standard map. Fractal and random patterns in the Eulerian spatial concentration of predators are obtained under different conditions. Exploiting the analogies of this coupled-map (advection plus reaction) system with a random map, some features of these patterns are discussed. (c) 2001 American Institute of Physics.

Journal Article↗

Identification and mapping of AFLP markers linked to peanut (Arachis hypogaea L.) resistance to the aphid vector of groundnut rosette disease.

Groundnut rosette disease is the most destructive viral disease of peanut in Africa and can cause serious yield losses under favourable conditions. The development of disease-resistant cultivars is the most effective control strategy. Resistance to the aphid vector, Aphis craccivora, was identified in the breeding line ICG 12991 and is controlled by a single recessive gene. Bulked segregant analysis (BSA) and amplified fragment length polymorphism (AFLP) analysis were employed to identify DNA markers linked to aphid resistance and for the development of a partial genetic linkage map. A F(2:3) population was developed from a cross using the aphid-resistant parent ICG 12991. Genotyping was carried out in the F2 generation and phenotyping in the F3 generation. Results were used to assign individual F2 lines as homozygous-resistant, homozygous-susceptible or segregating. A total of 308 AFLP (20 EcoRI+3/MseI+3, 144 MluI+3/MseI+3 and 144 PstI+3/MseI+3) primer combinations were used to identify markers associated with aphid resistance in the F(2:3) population. Twenty putative markers were identified, of which 12 mapped to five linkage groups covering a map distance of 139.4 cM. A single recessive gene was mapped on linkage group 1, 3.9 cM from a marker originating from the susceptible parent, that explained 76.1% of the phenotypic variation for aphid resistance. This study represents the first report on the identification of molecular markers closely linked to aphid resistance to groundnut rosette disease and the construction of the first partial genetic linkage map for cultivated peanut.

Animals↗

Overview of QTL mapping software and introduction to map manager QT.

At least ten software packages are available for marker-based detection and localization of loci contributing to quantitative traits in experimental animals and plants. Many of these have unique strengths or situations in which they are particularly useful. Six were developed by or in collaboration with plant geneticists and may not be well known to mammalian geneticists. These software packages are reviewed here and compared with a previously undescribed program, Map Manager QT, a Mac OS microcomputer program for mapping quantitative trait loci in populations derived from backcrosses, intercrosses, and recombinant inbred lines. Map Manager QT is an enhanced version of Map Manager Classic (Map Manager v2.6.5, Manly 1993), designed for mapping Mendelian loci. This review describes the methods Map Manager QT uses for mapping quantitative trait loci and describes other features that differ from those in Map Manager Classic. A complete description of both Map Manager Classic and Map Manager QT is available in the user manual, the on-line version of which can be found at http://mcbio.med.buffalo.edu/MMM/MMM.ht ml.

Animals↗

A resistance-like gene identified by EST mapping and its association with a QTL controlling Fusarium head blight infection on wheat chromosome 3BS.

Fusarium head blight (FHB) is a major disease in the wheat growing regions of the world. A quantitative trait locus (QTL) on the short arm of chromosome 3B controls much of the variation for resistance. The cloning of candidate disease-resistance genes for FHB QTLs on chromosome 3B can provide further elucidation of the mechanisms that control resistance. However, rearrangements and divergence during plant genome evolution often hampers the identification of sequences with similarity to known disease-resistance genes. This study focuses on the use of wheat expressed sequence tags (ESTs) that map to the region on chromosome 3B containing the QTL for FHB resistance and low-stringency BLAST searching to identify sequences with similarity to known disease-resistance genes. One EST rich with leucine repeats and low similarity to a protein kinase domain of the barley Rpg1 gene was identified. Genetic mapping using a Ning894037 x Alondra recombinant inbred (RI) population showed that this EST mapped to the QTL on the short arm of chromosome 3B and may represent a portion of a newly diverged gene contributing to FHB resistance. The EST is a new marker suitable for marker-assisted selection and provides a starting point to begin map-based cloning for chromosome walking and investigate new diverged genes at this locus.

Amino Acid Sequence↗

Quantitative trait locus mapping for meat quality traits in an Iberian x Landrace F2 pig population.

An experimental F2 cross between Iberian and Landrace pig strains was performed to map quantitative trait loci (QTL) for diverse productive traits. Here we report results for meat quality traits from 369 F2 animals with records for pH 24 h postmortem (pH 24 h), muscle color Minolta measurements L* (lightness), a* (redness), and b* (yellowness), H* (hue angle), C* (chroma), intramuscular fat (IMF) and haematin pigment content measured in the longissimus thoracis. Pigs were genotyped for 92 markers covering the 18 porcine autosomes (SSC). Results of the genome scan show evidence for QTL for IMF (SSC6; F = 27.16), pH 24 h (SSC3; F = 7.73), haematin pigments (SSC4 and SSC7; F = 8.68 and 9.47 respectively) and Minolta color measurements L* (SSC4 and SSC7; F =16.42 and 7.17 respectively), and a* (SSC4 and SSC8; F = 8.05 and 7.36 respectively). No QTL were observed for the color measurements b*, H*, and C*. Alternative models fitting epistasis between QTL were also tested, but detected epistatic interactions were not significant at a genome-wise level. In this work we identify genomic regions related with meat quality traits. Improvement by traditional selection methods is complicated, and finer mapping would be required for their application in introgression programs.

Animals↗

Prevalence of musculoskeletal conditions in an Italian population sample: results of a regional community-based study. I. The MAPPING study.

OBJECTIVE: The objective of the MAPPING study was to estimate the prevalence of musculoskeletal conditions in an Italian population sample. METHODS: Questionnaires were sent to a random sample of 3664 individuals aged 18 years and over, stratified for age and gender, selected from the practice lists of 16 general practices. Trained rheumatologists carried out structured visits in which subjects were asked about musculoskeletal symptoms and socio-demographic characteristics, and underwent a standardized physical examination. Cases were defined by previously validated criteria. RESULTS: A total of 2155 subjects participated in the study (response rate 58.8%). The overall prevalence of musculoskeletal conditions in the general adult population was 26.7% (95% CI 25.4-28.5), being significantly higher among women than men (p < 0.0001). Disease prevalence increased significantly with age (p < 0.0001). The most common disease group was symptomatic peripheral osteoarthritis (SPOA), with a prevalence of 8.95% (95% CI 6.81-10.7), followed by soft tissue disorders--STD (8.81%; 95% CI 7.16-10.29), low back pain--LBP (5.91%; 95% CI 4.89-6.89), and inflammatory rheumatic disease--IRD (3.06%; 95% CI 2.38-3.93). The estimated rates of disease prevalence were as follows: rheumatoid arthritis: 0.46% (95% CI 0.33-0.59); psoriatic arthritis: 0.42% (95% CI 0.31-0.61); ankylosing spondylitis: 0.37% (95% CI 0.23-0.49); polymyalgia rheumatica: 0.37% (95% CI 0.29-0.44); undifferentiated connective tissue disease: 0.14% (95% CI 0.09-0.21); crystal arthropathies, including gout 0.46% (95% CI 0.34-0.57) and chondrocalcinosis: 0.42% (95% CI 0.33-0.58); symptomatic knee osteoarthritis (OA): 5.39% (95% CI 3.41-7.99); hip-OA: 1.61% (95% CI 1.39-1.87); hand-OA: 1.95 (95% CI 1.22-2.48); fibromyalgia: 2.22% (95% CI 1.36-3.19); shoulder tendinitis/adhesive capsulitis: 3.06% (95% CI 2.11-4.09); carpal tunnel syndrome: 1.90% (95% CI 1.06-2.29), localized regional pain syndromes of the neck: 0.88% (95% CI 0.561.29), and lateral epicondylitis 0.74% (95% CI 0.47-1.33). CONCLUSIONS: The MAPPING study indicates that musculoskeletal conditions are common in the general adult population of Italy. These data are useful in planning the provision of healthcare.

Adolescent↗

Genetic dissection of intermated recombinant inbred lines using a new genetic map of maize.

A new genetic map of maize, ISU-IBM Map4, that integrates 2029 existing markers with 1329 new indel polymorphism (IDP) markers has been developed using intermated recombinant inbred lines (IRILs) from the intermated B73xMo17 (IBM) population. The website http://magi.plantgenomics.iastate.edu provides access to IDP primer sequences, sequences from which IDP primers were designed, optimized marker-specific PCR conditions, and polymorphism data for all IDP markers. This new gene-based genetic map will facilitate a wide variety of genetic and genomic research projects, including map-based genome sequencing and gene cloning. The mosaic structures of the genomes of 91 IRILs, an important resource for identifying and mapping QTL and eQTL, were defined. Analyses of segregation data associated with markers genotyped in three B73/Mo17-derived mapping populations (F2, Syn5, and IBM) demonstrate that allele frequencies were significantly altered during the development of the IBM IRILs. The observations that two segregation distortion regions overlap with maize flowering-time QTL suggest that the altered allele frequencies were a consequence of inadvertent selection. Detection of two-locus gamete disequilibrium provides another means to extract functional genomic data from well-characterized plant RILs.

Alleles↗

The structure of diversity within New World mitochondrial DNA haplogroups: implications for the prehistory of North America.

The mitochondrial DNA haplogroups and hypervariable segment I (HVSI) sequences of 1,612 and 395 Native North Americans, respectively, were analyzed to identify major prehistoric population events in North America. Gene maps and spatial autocorrelation analyses suggest that populations with high frequencies of haplogroups A, B, and X experienced prehistoric population expansions in the North, Southwest, and Great Lakes region, respectively. Haplotype networks showing high levels of reticulation and high frequencies of nodal haplotypes support these results. The haplotype networks suggest the existence of additional founding lineages within haplogroups B and C; however, because of the hypervariability exhibited by the HVSI data set, similar haplotypes exhibited in Asia and America could be due to convergence rather than common ancestry. The hypervariability and reticulation preclude the use of estimates of genetic diversity within haplogroups to argue for the number of migrations to the Americas.

DNA, Mitochondrial↗

Genomic Insights Into Heterosis: Dominance or Additive &#xd7; Additive Interaction?

Heterosis was documented in the 18th century, but its biological basis has been debated since. The theoretical framework proposed by Hill, and adapted by Lynch, is based on two central parameters: admixed composition (S), and the heterozygosity (H). Using genomic information, it is now possible to estimate independently the individual realized Si and Hi. In this research, a methodology for estimating the contribution of dominance and additive &#xd7; additive effects to heterosis is proposed. This approach would be especially relevant in cases where there is insufficient phenotypic information available, or an adequate genetic group experimental design, common in humans, wild species and other admixed populations. We also provide theoretical arguments highlighting the enhanced precision of the estimations of heterosis parameters through this method. Furthermore, we exemplify this procedure by analysing data from an experimental F2 pig population, which was initially designed for QTL mapping. Notably, all animals in this population were genotyped (including F1 and parental breeds), but phenotypic information was only available for F2 individuals and included 13 traits related to growth, fat deposition, carcass characteristics and meat quality. Significant additive effects (p&#x2009;<&#x2009;0.05) were detected for longissimus muscle area and carcass temperature, suggesting complementary additive effects for these traits. Significant dominance and additive &#xd7; additive effects were also detected for birth weight and carcass length, respectively (p&#x2009;<&#x2009;0.05), indicating that heterosis for these traits is primarily attributable to dominance and additive &#xd7; additive interactions. These results demonstrate that the proposed methodology can successfully estimate the genetic components underlying heterosis and underscores the utility of this approach in&#xa0;situations where we possess genomic data but limited phenotypic data.

SNP↗

Alpha-catulin maps to the familial dysautonomia region on 9q31.

Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of alpha-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, alpha-catulin is unlikely to be the causative gene in this disease.

Chromosome Mapping↗

A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.

Type 1 diabetes has a substantial genetic component, with consistent evidence for a susceptibility locus in the HLA-DR/DQ region (chromosome 6p) and the insulin gene region (chromosome 11p). Genome scans have identified >18 other genomic regions that may harbor putative type 1 diabetes genes. However, evidence for most regions varies in different data sets. Given the genetic heterogeneity of type 1 diabetes, studies in homogeneous genetically isolated populations may be more successful in mapping susceptibility loci than in complex outbred populations. We describe a genome-wide search in a recently Dutch isolated population. We identified 43 patients that could be traced back to a common ancestor within 15 generations and performed a genome-wide scan using a combined linkage- and association-based approach. In addition to the HLA locus, evidence for type 1 diabetes loci was observed on chromosome 8q24 (marker D8S1128) and on chromosome 17q24 (marker D17S2059). Both the 8q and 17q localization are supported by allele-sharing at adjacent markers in affected individuals. Statistical evidence for a conserved ancestral haplotype was found for chromosome 8q24.

Alleles↗