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PubMed2004

Molecular markers in breeding for virus resistance in barley.

The soil-borne barley yellow mosaic virus disease (BaMMV, BaYMV, BaYMV-2) and the aphid-transmitted barley yellow dwarf virus (BYDV) are serious threats to winter barley cultivation. Resistance to barley yellow mosaic virus disease has been identified in extensive screening programmes and several recessive resistance genes have been mapped, e.g. rym4, rym5, rym9, rym11, rym13. In contrast to barley yellow mosaic virus disease, no complete resistance to BYDV is known in the barley gene pool, but tolerant accessions have been identified and QTL for BYDV-tolerance have been detected on chromosomes 2HL and 3HL. The use of resistance and tolerance in barley breeding can be considerably improved today by molecular markers (RFLPs, RAPDs, AFLPs, SSRs, STSs, SNPs), as they facilitate (i) efficient genotyping and estimation of genetic diversity; (ii) reliable selection on a single plant level independent of symptom expression in the field (iii) acceleration of back crossing procedures; (iv) pyramiding of resistance genes; (v) detection of QTL and marker-based combination of positive alleles; and (vi) isolation of resistance genes via map-based cloning.

Alleles↗
PubMed2004

The role of barren stalk1 in the architecture of maize.

The architecture of higher plants is established through the activity of lateral meristems--small groups of stem cells formed during vegetative and reproductive development. Lateral meristems generate branches and inflorescence structures, which define the overall form of a plant, and are largely responsible for the evolution of different plant architectures. Here, we report the isolation of the barren stalk1 gene, which encodes a non-canonical basic helix-loop-helix protein required for the initiation of all aerial lateral meristems in maize. barren stalk1 represents one of the earliest genes involved in the patterning of maize inflorescences, and, together with the teosinte branched1 gene, it regulates vegetative lateral meristem development. The architecture of maize has been a major target of selection for early agriculturalists and modern farmers, because it influences harvesting, breeding strategies and mechanization. By sampling nucleotide diversity in the barren stalk1 region, we show that two haplotypes entered the maize gene pool from its wild progenitor, teosinte, and that only one was incorporated throughout modern inbreds, suggesting that barren stalk1 was selected for agronomic purposes.

Amino Acid Sequence↗
PubMed2007

Y-chromosomal variation in the Czech Republic.

To analyze the contribution of the Czech population to the Y-chromosome diversity landscape of Europe and to reconstruct past demographic events, we typed 257 males from five locations for 21 UEPs. Moreover, 141 carriers of the three most common haplogroups were typed for 10 microsatellites and coalescent analyses applied. Sixteen Hg's characterized by derived alleles were identified, the most common being R1a-SRY(10831) and P-DYS257*(xR1a). The pool of haplogroups within I-M170 represented the third most common clade. Overall, the degree of population structure was low. The ages for Hg I-M170, P-DYS257*(xR1a), and R1a-SRY(10831) ap peared to be comparable and compatible with their presence during or soon after the LGM. A signal of population growth beginning in the first millennium B.C. was detected. Its similarity among the three most common Hg's indicated that growth was characteristic for a gene pool that already contained all of them. The Czech population appears to be influenced, to a very moderate extent, by genetic inputs from outside Europe in the post-Neolithic and historical times. Population growth postdated the archaeologically documented introduction of Neolithic technology and the estimated central value coincides with a period of repeated changes driven by the development of metal technologies and the associated social and trade organization.

Analysis of Variance↗
PubMed1982

Somatic mutation in genes for the variable portion of the immunoglobulin heavy chain.

The size of the gene pool potentially encoding antibodies to p-azophenyl arsonate has been examined. A heavy chain-specific full-length complementary DNA clone has been constructed with the use of messenger RNA from a hybridoma that produces antibodies to the arsonate hapten and bears nearly a full complement of the determinants comprising the cross-reactive idiotype (CRI). The sequences of both the complementary DNA clone and the corresponding immunoglobulin heavy chain have been independently determined. A probe for the variable region gene was prepared from the original heavy chain complementary DNA clone and used to analyze, by Southern filter hybridization, genomic DNA from both A/J (CRI positive) and BALB/c (CRI negative) mice. Approximately 20 to 25 restriction fragments containing "germline" variable region gene segments were detected in both strains, and many are shared by both, Since 35 CRI-positive heavy chains have been partially sequenced thus far and 31 are different, the results of the hybridization analysis suggest that somatic mutation events involving the variable region gene segments of the heavy chain play a role in the origin of the amino acid sequence diversity seen in this system.

Amino Acid Sequence↗
PubMed2003

The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations.

Two tribal groups from southern India--the Chenchus and Koyas--were analyzed for variation in mitochondrial DNA (mtDNA), the Y chromosome, and one autosomal locus and were compared with six caste groups from different parts of India, as well as with western and central Asians. In mtDNA phylogenetic analyses, the Chenchus and Koyas coalesce at Indian-specific branches of haplogroups M and N that cover populations of different social rank from all over the subcontinent. Coalescence times suggest early late Pleistocene settlement of southern Asia and suggest that there has not been total replacement of these settlers by later migrations. H, L, and R2 are the major Indian Y-chromosomal haplogroups that occur both in castes and in tribal populations and are rarely found outside the subcontinent. Haplogroup R1a, previously associated with the putative Indo-Aryan invasion, was found at its highest frequency in Punjab but also at a relatively high frequency (26%) in the Chenchu tribe. This finding, together with the higher R1a-associated short tandem repeat diversity in India and Iran compared with Europe and central Asia, suggests that southern and western Asia might be the source of this haplogroup. Haplotype frequencies of the MX1 locus of chromosome 21 distinguish Koyas and Chenchus, along with Indian caste groups, from European and eastern Asian populations. Taken together, these results show that Indian tribal and caste populations derive largely from the same genetic heritage of Pleistocene southern and western Asians and have received limited gene flow from external regions since the Holocene. The phylogeography of the primal mtDNA and Y-chromosome founders suggests that these southern Asian Pleistocene coastal settlers from Africa would have provided the inocula for the subsequent differentiation of the distinctive eastern and western Eurasian gene pools.

Asia, Central↗
PubMed2006

Analysis of microsatellite variation in Pinus radiata reveals effects of genetic drift but no recent bottlenecks.

Most conifer species occur in large continuous populations, but radiata pine, Pinus radiata, occurs only in five disjunctive natural populations in California and Mexico. The Mexican island populations were presumably colonized from the mainland millions of years ago. According to Axelrod (1981), the mainland populations are relicts of an earlier much wider distribution, reduced some 8,000 years ago, whereas according to Millar (1997, 2000), the patchy metapopulation-like structure is typical of the long-term population demography of the species. We used 19 highly polymorphic microsatellite loci to describe population structure and to search for signs of the dynamics of population demography over space and time. Frequencies of null alleles at microsatellite loci were estimated using an approach based on the probability of identity by descent. Microsatellite genetic diversities were high in all populations [expected heterozygosity (H(e)) = 0.68-0.77], but the island populations had significantly lower estimates. Variation between loci in genetic differentiation (F(ST)) was high, but no locus deviated statistically significantly from the rest at an experiment wide level of 0.05. Thus, all loci were included in subsequent analysis. The average differentiation was measured as F(ST) = 0.14 (SD 0.012), comparable with earlier allozyme results. The island populations were more diverged from the other populations and from an inferred common ancestral gene pool than the mainland ones. All populations showed a deficiency of expected heterozygosity given the number of alleles, the mainland populations more so than the island ones. The results thus do not support a recent important contraction in the mainland range of radiata pine.

California↗
PubMed2005

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

The Quebec population contains about six-million French Canadians, descended from the French settlers who colonized "Nouvelle-France" between 1608 and 1765. Although the relative genetic contribution of each of these founders is highly variable, altogether they account for the major part of the contemporary French-Canadian gene pool. This study was designed to analyze the role of this founder effect in the introduction and diffusion of the BRCA1 recurrent R1443X mutant allele. A highly conserved haplotype, observed in 18 French-Canadian families and generated using 17 microsatellite markers surrounding the BRCA1 locus, supports the fact that the R1443X mutation is a founder mutation in the Quebec population. We also performed haplotyping analysis of R1443X carriers on 19 other families from seven different nationalities; although the same alleles are shared for three markers surrounding the BRCA1 gene, distinct haplotypes were obtained in four families, suggesting multiple origins for the R1443X mutation. Ascending genealogies of the 18 French Canadian families and of controls were reconstructed on an average depth of 10 generations. We identified the founder couple with the highest probability of having introduced the mutation in the population. Based on the descending genealogy of this couple, we detected the presence of geographical concentration in the diffusion pattern of the mutation. This study demonstrates how molecular genetics and demogenetic analyses can complement each other to provide findings that could have an impact on public health. Moreover, this approach is certainly not unique to breast cancer genetics and could be used to understand other complex traits.

Alleles↗
PubMed1975

Enzyme polymorphism and species discrimination in fruit flies of the genus Dacus (Tephritidae).

Sympatric populations of D. tryoni and D. neohumeralis are difficult to completely distinguish taxonomically. Using five pigmentation characters, each of some taxonomic value, a small proportion of individuals cannot be assigned to either species nor definitely classified as hybrids. To aid in species discrimination and hybrid identification gene frequencies in natural populations were estimated at three polymorphic protein loci, an alcohol dehydrogenase (Adh), an octanol dehydrogenase (Odh) and an esterase (E-2). Samples of flies were taken from four sites spread over 1200 miles along the Australian eastern coast. Within each species allelic frequencies at each locus were largely the same at all localities. Consistent differences in gene frequencies between species occurred at all three loci, strongly supporting the hypothesis of two distinct gene pools. The Adh locus best discriminated between species with a unique allele occurring in D. neohumeralis at a frequency of 0-85. None of the loci showed complete differentiation and hence it was not possible to find a quick and easy method to distinguish the species nor to detect field hybrids. Directional selection of laboratory populations for a change in callus colour (the best pigmentation character for separating the species) indicated that at the Adh and E-2 loci frequencies of major alleles were not genetically associated with major genes for callus colour. Thus genotype determination at these loci when considered together with pigmentation characters may be valuable taxonomically for further distinguishing between the species.

Alcohol Oxidoreductases↗
PubMed2002

Genetic divergence and reproductive isolation in the Ochthebius (Calobius) complex (Coleoptera: Hydraenidae).

The reproductive isolation in hydrenid beetles of the Ochthebius complex was studied by analysing gene exchange in natural populations of O. quadricollis, Ochthebius sp. A and O. brevicollis steinbuehleri collected along the Mediterranean coasts. The ranges of these three species are largely allopatric, but sympatric areas were detected between contiguous taxa, ie, O. quadricollis and Ochthebius sp. A; Ochthebius sp. A and O. b. steinbuehleri. Three levels of reproductive isolation and genetic divergence were observed. One level involves extensive intraspecific genetic divergence within the biological species O. quadricollis, Ochthebius sp. A and O. brevicollis, associated with both physical barriers (eg, sea and sand stretches) and the low dispersal capacity of larvae and adults. The finding of transitional samples between the most differentiated population groups should indicate, however, that there is still some gene flow between the populations of the three taxa. Another level is found between Ochthebius sp. A and O. b. steinbuehleri, whose gene pools appear to be fairly distinct in spite of the fact that reproductive isolation is still incomplete: in their few syntopic sites, some F1 hybrids appeared indeed to have lower fitness, since backcrosses or recombinant genotypes were never observed. The final level in the evolution of reproductive isolation (full reproductive isolation) has been achieved by the species O. quadricollis and Ochthebius sp. A. No F1 or F(n) hybrids, nor backcrosses were found in their sympatric areas. The relative importance of ecological factors and evolutionary forces in the prevention of gene exchange between taxa are discussed.

Alleles↗
PubMed2006

Intracellular gene expression profile of Listeria monocytogenes.

Listeria monocytogenes is a gram-positive, food-borne microorganism responsible for invasive infections with a high overall mortality. L. monocytogenes is among the very few microorganisms that can induce uptake into the host cell and subsequently enter the host cell cytosol by breaching the vacuolar membrane. We infected the murine macrophage cell line P388D1 with L. monocytogenes strain EGD-e and examined the gene expression profile of L. monocytogenes inside the vacuolar and cytosolic environments of the host cell by using whole-genome microarray and mutant analyses. We found that approximately 17% of the total genome was mobilized to enable adaptation for intracellular growth. Intracellularly expressed genes showed responses typical of glucose limitation within bacteria, with a decrease in the amount of mRNA encoding enzymes in the central metabolism and a temporal induction of genes involved in alternative-carbon-source utilization pathways and their regulation. Adaptive intracellular gene expression involved genes that are associated with virulence, the general stress response, cell division, and changes in cell wall structure and included many genes with unknown functions. A total of 41 genes were species specific, being absent from the genome of the nonpathogenic Listeria innocua CLIP 11262 strain. We also detected 25 genes that were strain specific, i.e., absent from the genome of the previously sequenced L. monocytogenes F2365 serotype 4b strain, suggesting heterogeneity in the gene pool required for intracellular survival of L. monocytogenes in host cells. Overall, our study provides crucial insights into the strategy of intracellular survival and measures taken by L. monocytogenes to escape the host cell responses.

Animals↗
PubMed1999

Cytonuclear disequilibria in wild populations of rabbit (Oryctolagus cuniculus L.) suggest unequal allele turnover rates at the b locus (IGKC1).

DNA sequence comparisons suggest that evolutionary rates at the rabbit IGKC1 locus can differ among allelic lineages. Here we address the question of whether population turnover rates can vary among IGKC1 alleles. We studied the distribution of sixteen IGKC1 (or b-locus) allotypes in areas comprising the aboriginal species range (Iberian peninsula). Rabbits in this area belong to one of two distantly related mitochondrial lineages (mtDNA types) A and B. In the more recent distribution area of the species, all rabbits belong to the mtDNA type B lineage, and IGKC1 alleles b4 and b5 comprise over 90% of the gene pool. These two alleles are also predominant in areas of mtDNA type B prevalence within the Iberian range. However, in areas of mtDNA type A prevalence, the b4 and b5 allotypes are rare or absent; they apparently have been replaced by serologically related, but distinct, 'endemic' variants. The cytonuclear disequilibria were highly significant, also within the subsample consisting of populations from Spain. These observations suggest that allelic persistence times for the predominant IGKC1 lineages could be shorter than the divergence time of the major mtDNA lineages A and B. In contrast, the relative gene frequencies of the IGKC1 allele b9 were similar among the type A and type B rabbits; it was present in most populations at low frequency. In consequence, persistence times of the b9 allele appear to be longer than the divergence time of lineages A and B. The data reported here are in agreement with the DNA sequence data, providing further proof that the molecular clock can run at different rates among allelic lineages at the rabbit IGKC1 locus.

Alleles↗
PubMed1971

Esterase polymorphism in the butterfly Hemiargus isola: stability in a variable environment.

A dimeric esterase of a lycaenid butterfly shows rich, electrophoretically-detectable variation in natural populations in Texas. This isozyme variation is controlled by multiple alleles at an autosomal locus (Es-d). In each population sampled there are 9-14 alleles, two of which (Es-d(100) and Es-d(80)) predominate and form about 84% of the gene pool. Against the background of numerous rarer alleles, their frequencies are notably stable (about 65% and 19%, respectively) in ecologically variable space and time. Although adults (especially females) are capable of genetically effective dispersal, environmental heterogeneity within each locality is thought to be the prime factor maintaining the polymorphism.

Alleles↗
PubMed1997

Fanconi anemia: genetic testing in Ashkenazi Jews.

Fanconi anemia (FA) is an autosomal recessive disorder characterized clinically by progressive pancytopenia, diverse congenital abnormalities, and a predisposition to malignancy, particularly acute myelogenous leukemia (AML). Hypersensitivity of FA cells to the clastogenic effect of crosslinking agents such as diepoxybutane (DEB) is used as a diagnostic criterion, because phenotypic heterogeneity makes clinical diagnosis difficult. Studies of genetic heterogeneity have shown that there are at least five different complementation groups, FA-A through FA-E. Overall, FA-A is the most prevalent group, accounting for 60%-65% of all FA. The FAA gene, which maps to chromosome 16q24.3, was recently isolated and methods for molecular diagnosis of FA-A are currently being developed. The first FA gene to be isolated (FAC) maps to chromosome 9q22.3; FA-C accounts for 10%-15% of FA. A variety of mutations and polymorphisms have been described in FAC. The most common of these is IVS4 +4 A-->T, which is the only FAC mutation found in Ashkenazi Jewish FA patients and their families. This mutation has not been found in any affected individual of non-Jewish ancestry. The carrier frequency of the IVS4 mutation was found to be 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%) in an Ashkenazi Jewish population, whereas no carriers were identified in an Iraqi Jewish population, which represents the original gene pool of the Jews. We have developed amplification refractory mutation system (ARMS) assays for FAC mutations, which provide a means of rapid, nonradioactive genetic testing. These assays have been used to assign FA patients to Group C, to provide rapid carrier testing and prenatal diagnosis for FA-C families.

Child, Preschool↗
PubMed2005

A reconsideration of the domestication geography of tetraploid wheats.

The domestication of tetraploid wheats started from their wild progenitor Triticum dicoccoides. In this paper, the geographical distribution of this progenitor is revised to include more sampling locations. The paper is based on a collection of wild and domesticated lines (226 accessions in total) analyzed by AFLP at 169 polymorphic loci. The collection includes the 69 wild lines considered by Mori et al. (2003) in their study on chloroplast DNA haplotypes of T. dicoccoides. The goal of the experiment was to reconsider which location thought to have generated the domesticated germplasm has the highest chance of being the actual site from which wild progenitors were sampled during domestication. Phylogenetic analysis of the nuclear AFLP databases indicates that two different genetic taxa of T. dicoccoides exist, the western one, colonizing Israel, Syria, Lebanon and Jordan, and the central-eastern one, which has been frequently sampled in Turkey and rarely in Iran and Iraq. It is the central-eastern race that played the role of the progenitor of the domesticated germplasm. This is supported by the cumulative results of the AFLP data from the collections of Ozkan et al. (2002) and of Mori et al. (2003), which indicate that the Turkish Karacadag population, intermixed with some Iraq-Iran lines, has a tree topology consistent with that of the progenitor of domesticated genotypes. The Turkish Kartal population belongs genetically to the central-eastern T. dicoccoides race but at the nuclear DNA level is less related to the domesticated gene pool. A general agreement between published work on tetraploid wheat domestication emerges from these results. A disagreement is nevertheless evident at the local geographical scale; the chloroplast DNA data indicate the Kartal mountains while AFLP fingerprinting points to the Karacadag Range as the putative site of tetraploid wheat domestication.

Cluster Analysis↗
PubMed2005

Comparative transcriptional profiling of two contrasting rice genotypes under salinity stress during the vegetative growth stage.

Rice (Oryza sativa), a salt-sensitive species, has considerable genetic variation for salt tolerance within the cultivated gene pool. Two indica rice genotypes, FL478, a recombinant inbred line derived from a population developed for salinity tolerance studies, and IR29, the sensitive parent of the population, were selected for this study. We used the Affymetrix rice genome array containing 55,515 probe sets to explore the transcriptome of the salt-tolerant and salt-sensitive genotypes under control and salinity-stressed conditions during vegetative growth. Response of the sensitive genotype IR29 is characterized by induction of a relatively large number of probe sets compared to tolerant FL478. Salinity stress induced a number of genes involved in the flavonoid biosynthesis pathway in IR29 but not in FL478. Cell wall-related genes were responsive in both genotypes, suggesting cell wall restructuring is a general adaptive mechanism during salinity stress, although the two genotypes also had some differences. Additionally, the expression of genes mapping to the Saltol region of chromosome 1 were examined in both genotypes. Single-feature polymorphism analysis of expression data revealed that IR29 was the source of the Saltol region in FL478, contrary to expectation. This study provides a genome-wide transcriptional analysis of two well-characterized, genetically related rice genotypes differing in salinity tolerance during a gradually imposed salinity stress under greenhouse conditions.

Base Sequence↗
PubMed2002

Genetic basis of tuberculosis susceptibility in India.

Tuberculosis is a complex disease resulting from the responses of immunological, genetic and environmental factors to the chronic infectious agent, Mycobacterium tuberculosis. Several genetic factors have been implicated in host disease susceptibility and the prevalence of a disease in a population may be equal to the product of the frequencies of the susceptible alleles present in the population living in an endemic area. The endogamous, sympatrically isolated gene pools, exposed to the highly infectious environmental load of India, is an ideal model to study tuberculosis susceptibility. Our recent studies in this endemic region have reiterated the association of HLA-DRB1*02 and its subtype DRB1*1501 with tuberculosis susceptibility and have identified an IL-10 associated disease susceptibility in HLAnon-DRB1*02, BCG scar negative individuals and a skewed usage of TCR Vb in BCG scar negative, HLA high risk allele carrying individuals. This indicates that there may be several pathways leading to disease. Tuberculosis susceptibility is not thus a one-gene one product manifestation but multifactorial and epistatic influences of various factors finally lead to the disease. We review the factors that has been explored under Indian context in tuberculosis susceptibility.

Alleles↗
PubMed2001

Dissecting a population genome for targeted screening of disease mutations.

Compared to mixed populations, population isolates such as Finland show distinct differences in the prevalence of disease mutations. However, little information exists of the differences on the prevalence of different disease alleles in regional populations with different history of multiple bottlenecks. We constructed a DNA-array and monitored the prevalence of 31 rare and common disease mutations underlying 27 clinical phenotypes in a large population-based study sample. Over 64 000 genotypes were assigned in 2151 samples from four geographical areas representing early and late settlement regions of Finland. Each sample was analyzed in duplicate and a total of 142 000 array-derived genotyping calls were made. On average one in three individuals was found to be a carrier of one of the 31 monitored mutations. This should remove fears of the stigmatizing effect of a carrier-screening program monitoring multiple diseases. Regional differences were found in the prevalence of mutations, providing molecular evidence for the deviating population histories of regional subisolates. The mutations introduced early into the population revealed relatively even distribution in different subregions. More recently introduced rare mutations showed local clustering of disease alleles, indicating the persistence of population subisolates and the effect of multiple bottlenecks in molding the population gene pool. Regional differences were observed also for common disease alleles. Such precise information of the carrier frequencies could form the basis for targeted genetic screens in this population. Our approach describes a general paradigm for large-scale carrier-screening programs also in other populations.

Alleles↗