Minimum guidelines for the delivery of clinical genetics services. The Evaluation of Clinical Services Subcommittee, Great Lakes Regional Genetics Group.
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Genetic Counseling↗
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Results for “Great Lakes Regional Genetics Group”
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Minimum guidelines for the delivery of prenatal genetics services. The evaluation of clinical services subcommittee, Great Lakes Regional Genetics Group.
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Humans↗
Model consent forms for DNA linkage analysis and storage.
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Consent Forms↗
Effects of coancestry on accuracy of individual assignments to population of origin: examples using Great Lakes lake trout (Salvelinus namaycush).
Methods for assigning individuals to population of origin are widely used in ecological genetics, resources management, and forensics. Characteristics of genetic data obtained from putative source populations that enhance accuracy of assignment are well established. How non-independence within and among unknown individuals to be classified [i.e., gene correlations within individual (inbreeding) and gene correlations among individuals within group (coancestry)] affect assignment accuracy is poorly understood. We used empirical data for six microsatellite loci and offspring from full-sib crosses of hatchery strains of lake trout (Salvelinus namaycush; Salmonidae) representing known levels of coancestry (mean theta = 0.006 and 0.06) within families to investigate how gene correlations can affect assignment. Additional simulations were conducted to further investigating the influence of allelic diversity (2, 6 or 10 alleles per locus) and inbreeding (F = 0.00, 0.05, and 0.15) on assignment accuracy for cases of low and high inter-population variance in allele frequency (mean F (st) = 0.01 and 0.1, respectively). Inbreeding had no effect on accuracy of assignments. In contrast, variance in assignment accuracy across replicated simulations, and for each empirical case study increased with increasing coancestry, reflecting non-independence of probabilities of correct assignment among members of kin groups. Empirical estimates of assignment error rates should be interpreted with caution if appreciable levels of coancestry are suspected. Additional emphasis should be placed on sampling designs (spatially and temporally) that define or minimize the potential for sampling related individuals.
Animal Population Groups↗
A global view of genetic diversity in cultivated sorghums using a core collection.
We report here an analysis of the structure of genetic diversity in cultivated sorghums. A core collection of 210 landraces representative of race, latitude of origin, response to day length, and production system was analysed with 74 RFLP probes dispersed throughout the genome. Multivariate analyses showed the specificity of the subrace guinea margaritiferum, as well as the geographical and racial pattern of genetic diversity. Neighbour-joining analysis revealed a clear differentiation between northern and southern equatorial African accessions. The presence of Asian accessions in these 2 major geographical poles for sorghum evolution indicated two introductions of sorghum into Asia. Morphological race also influenced the pattern of sorghum genetic diversity. A single predominant race was identified in 8 of 10 clusters of accessions, i.e., 1 kafir, 1 durra, 4 guinea, and 2 caudatum clusters. Guinea sorghums, with the exception of accessions in the margaritiferum subrace, clustered in 3 geographical groups, i.e., western African, southern African, and Asian guinea clusters; the latter two appeared more closely related. Caudatum were mainly distributed in 2 clusters, the African Great Lakes caudatum cluster and those African caudatum originating from other African regions. This last differentiation appears related to contrasting photoperiod responses. These results aid in the optimization of sampling accessions for introgression in breeding programs.
Alleles↗
[Molecular genetic analysis of the biological properties of highly pathogenic influenza A/H5N1 virus strains isolated from wild birds and poultry during epizooty in Western Siberia (July 2005)].
The full-size genomes of 2 highly pathogenetic avian influenza (HPAI) virus strains isolated from a wild great-crested grebe (A/Grebe/Novosibirsk/29/05) and a domestic duck (A/Duck/Novosibirsk/56/05) in the tract of the Chany hollow, Barabino forest-steppe (Novosibirsk Region) during the epizootic outbreak in the summer of 2005. The reproductive properties of these strains successively increase in the series of cell lines BHK-2 --> LEH --> Vero-E6 --> MDCK --> PS. A/Grebe/Novosibirsk/29/05 and A/Duck/Novosibirsk/56/05 were shown to be genetically close in all genomic segments to both each other and a group of HPAI/H5N1 A/Qinghai 05 strains isolated from wild birds on the Kukunor Lake in the northwestern province of Tsinkhai, China, in May 2005. All the above strains have the HPAI/H5-specific amino acid sequence of a proteolytic cleavage site (PQGERRRKKRGLF) with Lys-627 in the protein PB2 (which is associated with increased virulence to mammalian cells), Glu-92 in the protein NS1 (that suppresses an antiviral response in the host), Ser-31 in M2 (that is a marker of rimantadine/amantadine sensitivity), 20-member amino acid deletion in the protein NA (positions 49-68) that is a marker of affiliation to the so-called genotype Z and of increased tropism to poultry.
Amantadine↗
Context of maternal lineages in the Greater Southwest.
We present mitochondrial haplogroup characterizations of the prehistoric Anasazi of the United States (US) Southwest. These data are part of a long-term project to characterize ancient Great Basin and US Southwest samples for mitochondrial DNA (mtDNA) diversity. Three restriction site polymorphisms (RSPs) and one length polymorphism identify four common Native American matrilines (A, B, C, and D). The Anasazi (n = 27) are shown to have a moderate frequency of haplogroup A (22%), a high frequency of haplogroup B (56%), and a low frequency of C (15%). Haplogroup D has not yet been detected among the Anasazi. In comparison to modern Native American groups from the US Southwest, the Anasazi are shown to have a distribution of haplogroups similar to the frequency pattern exhibited by modern Pueblo groups. A principal component analysis also clusters the Anasazi with some modern (Pueblo) Southwestern populations, and away from other modern (Athapaskan speaking) Southwestern populations. The Anasazi are also shown to have a significantly different distribution of the four haplogroups as compared to the eastern Great Basin Great Salt Lake Fremont (n = 32), although both groups cluster together in a principal component analysis. The context of our data suggests substantial stability within the US Southwest, even in the face of the serious cultural and biological disruption caused by colonization of the region by European settlers. We conclude that although sample numbers are fairly low, ancient DNA (aDNA) data are useful for assessing long-term populational affinities and for discerning regional population structure.
DNA, Mitochondrial↗
Population structure, persistence, and seasonality of autochthonous Escherichia coli in temperate, coastal forest soil from a Great Lakes watershed.
The common occurrence of Escherichia coli in temperate soils has previously been reported, however, there are few studies to date to characterize its source, distribution, persistent capability and genetic diversity. In this study, undisturbed, forest soils within six randomly selected 0.5 m2 exclosure plots (covered by netting of 2.3 mm2 mesh size) were monitored from March to October 2003 for E. coli in order to describe its numerical and population characteristics. Culturable E. coli occurred in 88% of the samples collected, with overall mean counts of 16 MPN g(-1), ranging from < 1 to 1657 (n = 66). Escherichia coli counts did not correlate with substrate moisture content, air, or soil temperatures, suggesting that seasonality were not a strong factor in population density control. Mean E. coli counts in soil samples (n = 60) were significantly higher inside than immediately outside the exclosures; E. coli distribution within the exclosures was patchy. Repetitive extragenic palindromic polymerase chain reaction (Rep-PCR) demonstrated genetic heterogeneity of E. coli within and among exclosure sites, and the soil strains were genetically distinct from animal (E. coli) strains tested (i.e. gulls, terns, deer and most geese). These results suggest that E. coli can occur and persist for extended periods in undisturbed temperate forest soils independent of recent allochthonous input and season, and that the soil E. coli populations formed a cohesive phylogenetic group in comparison to the set of fecal strains with which they were compared. Thus, in assessing E. coli sources within a stream, it is important to differentiate background soil loadings from inputs derived from animal and human fecal contamination.
Animals↗
Nearly identical bacteriophage structural gene sequences are widely distributed in both marine and freshwater environments.
Primers were designed to amplify a 592-bp region within a conserved structural gene (g20) found in some cyanophages. The goal was to use this gene as a proxy to infer genetic richness in natural cyanophage communities and to determine if sequences were more similar in similar environments. Gene products were amplified from samples from the Gulf of Mexico, the Arctic, Southern, and Northeast and Southeast Pacific Oceans, an Arctic cyanobacterial mat, a catfish production pond, lakes in Canada and Germany, and a depth of ca. 3,246 m in the Chuckchi Sea. Amplicons were separated by denaturing gradient gel electrophoresis, and selected bands were sequenced. Phylogenetic analysis revealed four previously unknown groups of g20 clusters, two of which were entirely found in freshwater. Also, sequences with >99% identities were recovered from environments that differed greatly in temperature and salinity. For example, nearly identical sequences were recovered from the Gulf of Mexico, the Southern Pacific Ocean, an Arctic freshwater cyanobacterial mat, and Lake Constance, Germany. These results imply that closely related hosts and the viruses infecting them are distributed widely across environments or that horizontal gene exchange occurs among phage communities from very different environments. Moreover, the amplification of g20 products from deep in the cyanobacterium-sparse Chuckchi Sea suggests that this primer set targets bacteriophages other than those infecting cyanobacteria.
Bacteriophages↗
Classification and phylogenetic relationships of African tilapiine fishes inferred from mitochondrial DNA sequences.
African cichlid fishes are composed of two major lineages, the haplochromines and the tilapiines. Whereas the phylogenetic relationships of the haplochromines have been studied extensively, primarily because of their spectacular adaptive radiations in the Great Lakes of East Africa, little is known about the relationships among the tilapiine species, despite the fact that they have become an important component of African, indeed world, aquaculture. To remedy this situation, molecular phylogenetic analysis of tilapiine fishes was undertaken. A segment of mitochondrial DNA encompassing the terminal part of the tRNA(Pro) gene and the most variable part of the control region was amplified by the polymerase chain reaction with DNA samples isolated from 42 tilapiine species, and the amplification products were subjected to heteroduplex analysis and sequencing. Phylogenetic trees based on 68 sequences revealed the existence of 11 sequence groups and 11 single-sequence branches. The groups, designated Ti1 through Ti11, were distinguished by specific combinations of diagnostic substitutions, formation of monophyletic clusters, and separation by genetic distances in excess of 0.04. Although the relationships among the groups could not be resolved, the sequences separated Oreochromis and Sarotherodon from Tilapia, as defined by Trewavas. The Oreochromis sequences clustered with the Sarotherodon sequences and thus supported the hypothesis that the mouthbrooding behavior of the tilapiine fishes evolved only once from the substrate-spawning behavior. Since on phylogenetic trees the O. alcalicus (sub)species were always separated from O. amphimelas by other Oreochromis species, it was concluded that the adaptation to life in water with a high salt concentration and high pH values evolved independently at least twice in the tilapiine fishes. The tilapiines diverged from the haplochromines more than 8 million years ago; most of the intragroup divergences among the tilapiines took place an estimated 1.1 to 6 million years ago.
Animals↗
Comparative study of two protein-coding regions of mitochondrial DNA from three endemic sculpins (Cottoidei) of Lake Baikal.
Two protein-coding regions (cytochrome b, ATPase 8, and part of ATPase 6) from mitochondrial DNA of Cottus kessleri, Cottocomephorus grewingki, and Cottocomephorus inermis--Baikalian endemic sculpins--were amplified via polymerase chain reaction, and sequenced. Two novel primers--L8352 (5'-TAAAGATTGGTGAC TCCCAACCACC) and H8773 (5'-GTAGGGAGT AAGCCCAATATGTT)--were used for the latter region. Phylogenies suggested by sequence divergence of the genes of ATPases appeared to be different from those computed from data for cytochrome b. The time of species branching was estimated as 1-2 million years (Myr) on the basis of merged sequences. Hence, members of the Baikalian cottoid species flock are much more distant from each other than members of the cichlid fish flocks of the great lakes of Africa (0.2 Myr). Topology of the phylogenetic tree does not contradict the relationships derived from morphological data. However, genetic distances suggest that C. grewingki and C. inermis are not sister species, contrary to general belief.
Adenosine Triphosphatases↗
Biological relationships among the Iroquois.
The intrusive cultural and linguistic position of Iroquoian-speaking peoples among Algonquian speakers of the lower Great Lakes region has sparked much debate concerning their cultural and biological origins. Previous physical anthropological studies, largely limited to typological or univariate osteometric analyses, have produced equivocal and contradictory results, offering little insight into the question of origins. This study addresses the question of Iroquois origins by examining biological relationships in the lower Great Lakes region using a multivariate analysis of anthropometric data. The study uses 12 body and head measurements taken on 843 individuals from 7 Iroquoian and 4 Algonquian groups. The data were examined using biodistances, canonical variate analysis, and a model of differential gene flow. The results indicate a possible biological distinction between Iroquoians and Algonquians, suggesting different biological origins. Gene flow in prehistoric and historical times may have mitigated much of this differentiation. The Onondaga most closely approximate the ancestral Iroquoian phenotype and are phenotypic outliers, probably because of reproductive isolation from the Algonquians. The Onondaga have unexpectedly high mean phenotypic variance with respect to distance from the phenotypic centroid, suggesting a greater than average degree of external gene flow. Because no viable source for external genes can be determined, however, the Onondaga's high mean variance may be better explained through patterns of nonrandom mating and reproductive isolation.
Anthropometry↗
Dogrib Indians of the Northwest Territories, Canada: genetic diversity and genetic relationship among subarctic Indians.
Phenotypes and gene frequencies of genes at the ABO, Rhesus, MNSs, Diego, Duffy, Kell, Kp, Kidd and P blood group systems are presented for three villages of Dogrib Indians. This population resides between Great Slave and Great Bear Lakes in the Northwest Territories of Canada. Until recently they pursued an exclusively hunting-gathering-fishing lifestyle in the subarctic forest. Maximum European admixture in the Dogrib is 8.7%. Nei's coefficient of gene diversity, GST is 0.0121. Blood group data from other Athapaskan-speaking Indians were also examined. GST for Kutchin villages is approximately 1.1%. GST obtained over five tribes of Northern Athapaskans is 0.0264, a figure slightly lower than that found in comparable groups of Mexican Indians. Overall genetic differentiation (HT) in Northern Athapaskans was greater than in the Mexicans, presumably because of high, though nonquantifiable European admixture in some of the tribes. The bulk of the genetic variability in Athapaskans exists within tribes, and then within villages of the same tribe. Genetic distance analysis with Nei's standard distance D shows that Dogrib and Kutchin Indians are very close. Geographic proximity has no significant influence on inter-tribal gene flow, but is significantly associated with intra-tribal gene flow.
Adult↗
Phylogeography of Rice yellow mottle virus in Africa.
The sequences of the coat protein gene of a representative sample of 40 isolates of Rice yellow mottle virus (RYMV) from 11 African countries were analysed. The overall level of nucleotide diversity was high (approximately 14%). Great geographical distances between the sites where isolates were collected were consistently associated with high genetic distances. In contrast, a wide range of genetic distances occurred among isolates spread over short geographical distances. There was no evidence of long-range dispersal. RYMV diversity in relation to land area was eight times greater in East Africa than in West/Central Africa. West/Central African isolates with up to 9 % divergence belonged to a monophyletic group, whereas the East African isolates with up to 13 % divergence fell into distantly related groups. In East Africa, each Tanzanian strain had a specific and restricted geographical range, whereas West/Central African strains had large and partially overlapping geographical distributions. Overall, our results suggest an earlier RYMV diversification in East Africa and a later radiation in West/Central Africa. The West African situation was consistent with virus adaptation to savanna, forest and other ecological conditions. In contrast East Africa, as exemplified by the Tanzanian situation, with numerous physical barriers (mountain chains, sea channel, lakes), suggested that RYMV strains resulted from divergence under isolated conditions. For RYMV and for two other viruses, phylogenetic relationships were established between isolates from Madagascar and isolates from the Lake Victoria region.
Africa↗
Persistence of neutral polymorphisms in Lake Victoria cichlid fish.
Phylogenetic trees for groups of closely related species often have different topologies, depending on the genes used. One explanation for the discordant topologies is the persistence of polymorphisms through the speciation phase, followed by differential fixation of alleles in the resulting species. The existence of transspecies polymorphisms has been documented for alleles maintained by balancing selection but not for neutral alleles. In the present study, transspecific persistence of neutral polymorphisms was tested in the endemic haplochromine species flock of Lake Victoria cichlid fish. Putative noncoding region polymorphisms were identified at four randomly selected nuclear loci and tested on a collection of 12 Lake Victoria species and their putative riverine ancestors. At all loci, the same polymorphism was found to be present in nearly all the tested species, both lacustrine and riverine. Different polymorphisms at these loci were found in cichlids of other East African lakes (Malawi and Tanganyika). The Lake Victoria polymorphisms must have therefore arisen after the flocks now inhabiting the three great lakes diverged from one another, but before the riverine ancestors of the Lake Victoria flock colonized the Lake. Calculations based on the mtDNA clock suggest that the polymorphisms have persisted for about 1.4 million years. To maintain neutral polymorphisms for such a long time, the population size must have remained large throughout the entire period.
Actins↗
Identifying potential indicators of conservation value using natural heritage occurrence data.
Conservation planning based on the occurrence of rare species has been criticized as being too limited in scope to conserve biodiversity as a whole. Conversely, planning based on indicator taxa may lack sufficient focus to conserve those species in greatest need of conservation. An alternative approach is to identify a variety of species at risk that are associated with areas of conservation value, which is defined based on species-independent characteristics. We identified potential indicators of conservation value using occurrence data on species at risk and independent information on conservation value that incorporated indices of ecosystem integrity. We propose a taxonomically diverse group of indicator species that are strongly associated with areas of exceptional ecosystem integrity, to serve as a focus for further research and in planning for biodiversity conservation. We identify potential indicator species by defining a null model in which species at risk are equally associated with areas of high ecosystem integrity, then by conducting randomization tests to identify noncompliant species in the state of Michigan, USA. Areas of high ecosystem integrity are selected using criteria to flag (1) secure biotic communities with structural integrity and few exotic species, (2) natural areas subjected to expert review, (3) contiguous relict areas of forest interior, (4) contiguous areas of unmodified wetland, and (5) all these areas combined. We determine the spatial occurrence of species at risk using data from Michigan's statewide Natural Heritage database. The potential indicators include plants, insects, and birds. Their species identity and distribution of occurrences varies with the five scenarios, and together the species broadly cover the entire state. These species at risk, many of which occur throughout the Great Lakes region, may be used to identify additional areas potentially high in conservation value and to monitor their conservation. The ecological criteria and numerical methods we employ may be broadly applicable as Heritage Program databases in North America and parts of Latin America grow to become representative of species distributions.
Animals↗
Chitinase genes in lake sediments of Ardley Island, Antarctica.
A sediment core spanning approximately 1,600 years was collected from a lake on Ardley Island, Antarctica. The sediment core had been greatly influenced by penguin guano. Using molecular methods, the chitinolytic bacterial community along the sediment core was studied over its entire length. Primers targeting conserved sequences of the catalytic domains of family 18 subgroup A chitinases detected group A chitinases from a wide taxonomic range of bacteria. Using quantitative competitive PCR (QC-PCR), chitinase gene copies in each 1-cm section of the whole sediment column were quantified. QC-PCR determination of the chitinase gene copies indicated significant correlation with phosphorus and total organic carbon concentration, suggesting a historical connection between chitinase gene copies and the amount of penguin guano input into the lake sediment. Most of the chitinase genes cloned from the historic sediment core were novel. Analysis of the chitinase gene diversity in selected sediment layers and in the fresh penguin deposits indicated frequent shifts in the chitinolytic bacterial community over time. Sequence analysis of the 16S rRNA genes of chitinolytic bacteria isolated from the lake sediment revealed that the isolates belonged to Janthinobacterium species, Stenotrophomonas species of gamma-Proteobacteria, Cytophaga species of the Cytophaga-Flexibacter-Bacteroides group, and Streptomyces and Norcardiopsis species of Actinobacteria. Chitinase gene fragments were cloned and sequenced from these cultivated chitinolytic bacteria. The phylogeny of the chitinase genes obtained from the isolates did not correspond well to that of the isolates, suggesting acquisition via horizontal gene transfer.
Antarctic Regions↗
Intercontinental karyotypic differentiation of Chironomus entis Shobanov, a Holarctic member of the C. plumosus group (Diptera, Chironomidae).
Analysis of banding sequences of polytene chromosomes in Palearctic (Russian) and Nearctic (North American) Chironomus entis shows strong karyotype divergence between populations on the two continents. Four out of seven chromosomal arms in the North American C. entis karyotype are characterized by sequences found only in the Nearctic. In total, 44 banding sequences are now known for this species across the Holarctic, including 22 exclusively Palearctic, 6 Holarctic, and 16 exclusively Nearctic sequences. The degree of cytogenetic differentiation between Palearctic and Nearctic C. entis populations is an order of magnitude greater than differentiation among populations within either continent, but is only one third as great as the cytogenetic distance between the sibling species C. entis and C. plumosus. C. entis is the only sibling species of C. plumosus uncovered during cytological identification of Chironomus species from more than 50 North American lakes, indicating that the plumosus sibling-species group is much smaller in the Nearctic than in the Palearctic, where a dozen sibling species are known. Cytogenetic distance values calculated between Nearctic and Palearctic representatives of both C. entis and its sibling species C. plumosus are similar, but result from different patterns of karyotype divergence. New World C. entis is distinguished from Old World populations by the 16 uniquely Nearctic sequences, four of which occur in the homozygous state. In contrast, North American C. plumosus has fewer uniquely Nearctic sequences, and only one that occurs as a homozygote. However, four chromosomal arms in C. plumosus that are polymorphic in the Palearctic show fixation, or near fixation, of Holarctic sequences in the Nearctic C. plumosus karyotype. Thus, both the fixation of Holarctic sequences, and the occurrence or fixation of distinctly Nearctic sequences, contribute significantly to karyotype divergence. Patterns of karyotype divergence in Palearctic and Nearctic populations of different Holarctic chironomid species are discussed relative to intercontinental cytogenetic differentiation in other dipterans.
Animals↗