Genetic polymorphism of alpha-1-antitrypsin in macaque species

Thirty-two phenotypes of alpha-1-antitrypsin (al-AT) controlled by 18 codominant alleles of PI_mac locus were identified by isoelectric focusing in 1.121 macaques of nine species. In terms of al-AT polymorphism macaque species vary markedly from nearly monomorphic (Macaca mulatta, M. arctoides) to highly polymorphic (M. nemestrina, M. fascicularis). Only 4 of 18 PI_mac alleles are common for two or more macaque species, the rest of the alleles are species-specific.     

Serum albumin and erythrocyte adenosine deaminase polymorphisms in Asian macaques with special reference to taxonomic relationships amongMacaca assamensis,M. radiata,andM. mulatta

Serum albumin (Alb) and erythrocyte adenosine deaminase (ADA) polymorphisms in Asian macaques were investigated by means of starch gel electrophoresis. The materials comprise a total of 2,323 blood samples from eight species, namely,Macaca fuscata,M. mulatta,M. cyclopis,M. fascicularis,M. nemestrina,M. speciosa,M. radiata, andM. assamensis. It was observed that three Alb phenotypes were controlled by two codominant alleles, Alb _mac ^A and Alb _mac ^B and six ADA phenotypes by four codominant alleles, ADA _mac ¹ , ADA _mac ² , ADA _mac ³ , and ADA _mac ⁴ . The taxonomic relationships amongM. assamensis,M. radiata, andM. mulatta were analyzed by measuring theNei's (1975) genetic distance. The result supportedHill andBernstein's (1969) postulation thatM. assamensis was more closely related phylogenetically toM. radiata than toM. mulatta.     

Odontometric differences betweenCercopithecus aethiops populations: A simulation approach to estimating confidence limits for Penrose’s shape coefficient

A modified bootstrapping procedure is described by means of which standard errors and confidence limits may be determined for the Penrose shape coefficient. This method is then applied to odontometric data derived from four closely related groups of primates: Cercopithecus aethiops pygerythrus, C. a. sabaeus,St. Kitt’s green monkey (derived from C. a. sabaeus),and C. a. centralis.Although statistically significant distances were found to exist between these groups, one shape coefficient was significantly greater than the others: that between C. a. pygerythrusand C. a. centralis.Low levels of sexual dimorphism characterized the shape coefficients, with distances based on mandibular teeth being greater than those derived from maxillary teeth.     

Genetic Predisposition to Alcoholic Toxic Cirrhosis

Comprehensive analysis of the contribution of genetic factors into predisposition to alcoholic toxic cirrhosis (TC) was performed. The AB0, RH, HP, TF, GC, PI, ACP1, PGM1, ESD, GLO1, and GST1 genetic polymorphisms were compared in 34- to 59-year-old male TC patients and control donors of the same sex and age. The phenotypic frequencies in the TC group deviated from the theoretically expected values; the main difference was the excess of rare homozygotes for the lociGC, ACP1, ESD, and GLO1.In the TC patients, the observed heterozygosity (H _o) was considerably lower than the theoretically expected value (H _e). Wright's fixation index (F) in the TC patients was 30 times higher than in the control group (0.0888 and 0.0027, respectively). A considerable decrease in the ABO*0allele frequency at the expense of an increase in the ABO*Aallele frequencywas observed in the TC patients as compared to the control sample. The TF*C2allele frequencywas two times higher in the patients than in the control group (0.2571 and 0.1308, respectively). The frequencies ofPI*Zand PI*S, the PIalleles that are responsible for lower concentrations of proteinase inhibitor, were 12 and 6 times higher in the TC than in the control group. The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0allele, whereas the GST1*2frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following alleles of six independent loci: ABO*0, TF*C1, TF*C2, PI*M1, PI*Z, ACP1*C, PGM1*1+, PGM1*1–, PGM1*2–, GST1*0, andGST1*2. The haptoglobin level was significantly higher and the serum transferrin level was drastically lower in all phenotypic groups of TC patients than in control subjects. The concentrations of IgM and IgG depended on the HP, GC, and PI phenotypes. The total and direct reacting bilirubin concentrations depended on the red cell-enzyme phenotypes (ACP1, PGM1, and GLO1) in both TC and control groups.     

Short‐term physiological plasticity: Trade‐off between drought and recovery responses in three Mediterranean Cistus species

Short‐term physiological plasticity allows plants to thrive in highly variable environments such as the Mediterranean ecosystems. In such context, plants that maximize physiological performance under favorable conditions, such as Cistus spp., are generally reported to have a great cost in terms of plasticity (i.e., a high short‐term physiological plasticity) due to the severe reduction of physiological performance when stress factors occur. However, Cistus spp. also show a noticeable resilience ability in response to stress factors. We hypothesized that in Cistus species the short‐term physiological response to stress and that to subsequent recovery can show a positive trade‐off to offset the costs of the photosynthetic decline under drought. Gas exchange, chlorophyll fluorescence, and water relations were measured in C. salvifolius, C. monspeliensis, and C. creticus subsp. eriocephalus during an imposed experimental drought and subsequent recovery. Plants were grown outdoor in common garden conditions from seeds of different provenances. The short‐term physiological response to stress and that to recovery were quantified via phenotypic plasticity index (PI_stress and PI_recovery, respectively). A linear regression analysis was used to identify the hypothesized trade‐off PI_stress–PI_recovery. Accordingly, we found a positive trade‐off between PI_stress and PI_recovery, which was consistent across species and provenances. This result contributes in explaining the profit, more than the cost, of a higher physiological plasticity in response to short‐term stress imposition for Cistus spp because the costs of a higher PI_stress are payed back by an as much higher PI_recovery. The absence of leaf shedding during short‐term drought supports this view. The trade‐off well described the relative variations of gas exchange and water relation parameters. Moreover, the results were in accordance with the ecology of this species and provide the first evidence of a consistent trade‐off between the short‐term physiological responses to drought and recovery phases in Mediterranean species.     

ABO Blood groups in cebidae (Platyrrhini,Primates) from the Rio Jamari Region

Blood and saliva samples were collected from 84Aotus azarae boliviensis, 31Ateles paniscus chamek, 130Callicebus brunneus, 130Cebus apella, 117Pithecia irrorata irrorata, and 117Saimiri ustus. Saliva samples were investigated for human ABH antigens by the standard hemagglutination inhibition test. Two species,P. irrorata andC. brunneus showed monomorphism, presenting only the A blood group. Among the polymorphic species,A. paniscus andC. apella presented theO (30 and 3) and A (1 and 127) phenotypes, and the B (80) and AB (4) phenotypes were detected inA. azarae. S. ustus was the only species that presented all the four phenotypes. The observed distribution was as expected assuming Hardy-Weinberg equilibrium to be present in those species that could be tested. The ABH substances were titrated and a comparison among species was made. Serum samples were used to detect natural antibodies and the results showed some disagreement between serum and saliva phenotypes.     

Plasma protease inhibitor (PI) system in the laboratory opossum,Monodelphis domestica

Protease inhibitor (PI) polymorphism was observed in the laboratory opossum,Monodelphis domestica, by either one-dimensional acid polyacrylamide gel electrophoresis (PAGE; pH 4.6) or isoelectric focusing (pH 3.5-5.0) followed by immunoblotting with rabbit antiserum to human α₁-antitrypsin; but acid PAGE produced superior resolution of the PI proteins. Family studies demonstrated an inheritance of nine codominant autosomal alleles,PI ^D ,PI ^E ,PI ^F ,PI ^G ,PI ^H ,PI ^I ,PI ^J ,PI ^K , andPI ^M , and a population study revealed frequencies of 0.411, 0.010, 0.341, 0.034, 0.023, 0.071, 0.035, 0.020, and 0.055, respectively.     

Distribution of the electrophoretic variants of serum alpha1-antitrypsin in six species of the macaques

Individual variations of ₁-antitrypsin of the macaques were investigated by means of starch gel electrophoresis. The material comprised a total of 1,084 plasma samples taken from six species, namely,Macaca irus, mulatta, cyclopis, nemestrina, speciosa, andfuscata, including several geographical groups. At least ten phenotypes which were assumed in analogy to human Pi-system to be under genetic control of five codominant alleles tentatively denoted byPi _Mac ^{A, B, C, D, E} were identified. It was considered that these alleles are commonly possessed by different macaque species. A marked difference in the distribution of allele frequencies was found both within and between species groups. Several aspects of this new polymorphic variation in the macaques were discussed with special reference to the geographical distribution of the alleles and the origins of the Japanese macaque,M. fuscata. This study was carried out as part of the Special Project of the Japan-U.S. Cooperative Scientific Program: Blood Macromolecules and the Genetic Origins of the Japanese Macaques (Chief investigators:T. Miki andM. Goodman)     

Allozyme variation and phylogeny in annual species ofCicer (Leguminosae)

Allozymic variation at 30 isozyme loci was examined electrophoretically in nine annual and one perennial species ofCicer. While most of the accessions examined were monomorphic, species can be differentiated on the basis of their enzyme phenotypes. Several groups of species were identified based upon genetic distance values. For example,C. arietinum, C. reticulatum, andC. echinospermum shared the same alleles for most of the loci exmained. PerennialC. anatolicum is also closely related to this group. Similarly,C. judaicum, C. bijugum, andC. pinnatifidum formed another group. Two annual species,C. chorassanicum andC. yamashitae clustered together, whereasC. cuneatum was the most distantly related species. Correlations were found between genetic distances and geographic distribution. Results from enzyme electrophoresis tend to support the previously reported taxonomic treatments based upon crossability and morphological similarity. However,C. yamashitae, which has been classified in the second crossability group, is quite distinct genetically and morphologically from the remaining species of the group. An isozyme gene duplication observed in the genus suggested the monophyletic origin of the species examined in the present study.     

Kangiella shandongensis sp. nov., a novel species isolated from saltern in Yantai,China

A Gram-stain-negative, wheat, rod-shaped, non-motile, non-spore forming, and facultatively anaerobic bacterium strain, designated as PI^T, was isolated from saline silt samples collected in saltern in Yantai, Shandong, China. Growth was observed within the ranges 4–45 °C (optimally at 33 °C), pH 6.0–9.0 (optimally at pH 7.0) and 1.0–11.0% NaCl (optimally at 3.0%, w/v). Strain PI^T showed highest 16S rRNA gene sequence similarity to Kangiella sediminilitoris BB-Mw22^T (98.3%) and Kangiella taiwanensis KT1^T (98.3%). The major cellular fatty acids (>?10% of the total fatty acids) were iso-C_15:0 (52.7%) and summed featured 9 (iso-C_17:1ω9c/C_16:0 10-methyl, 11.8%). The major polar lipids identified were diphosphatidylglycerol, phosphatidylethanolamine, phosphatidylmonomethylethanolamine and phosphatidylglycerol. The major respiratory isoprenoid quinone was Q-8. The G?+?C content of the genomic DNA was 45.8%. Average Nucleotide Identity values between whole genome sequences of strain PI^T and next related type strains supported the novel species status. Based on physiological, biochemical, chemotaxonomic characteristics and genomic analysis, strain PI^T is considered to represent a novel species within the genus Kangiella, for which the name Kangiella shandongensis sp. nov. is proposed. The type strain is PI^T (=?KCTC 82509 ^T?=?MCCC 1K04352^T).

     

PI (α1-antitrypsin) subtypes: Frequency of PI*M4 in several populations

Summary Sera from different populations (Dutch, Northern and Southern Italians and Spaniards) were screened for PI (₁-antitrypsin) types and subtypes. A polyacrylamide isoelectric focusing method was applied, which consisted of the combined use of an ultra-thin highly cross-linked gel, restricted pH range carrier ampholytes and a separator. This technique enabled easy typing and subtyping of all known PI phenotypes including PI*M subtypes. The frequency of the new PI*M4 allele was lowest of all PI*M alleles (0.0476 in The Netherlands, 0.0371 in Northern Italy, 0.0308 in Southern Italy and 0.0146 in Spain).     

Phylogeny and divergence of basal angiosperms inferred from<Emphasis Type="Italic"> APETALA3</Emphasis>- and<Emphasis Type="Italic"> PISTILLATA</Emphasis>-like MADS-box genes

The B-class MADS-box genes composed of APETALA3 (AP3) and PISTILLATA (PI) lineages play an important role in petal and stamen identity in previously studied flowering plants. We investigated the diversification of the AP3-like and PI-like MADS-box genes of eight species in five basal angiosperm families: Amborella trichopoda (Amborellaceae); Brasenia schreberi and Cabomba caroliniana (Cabombaceae); Euryale ferox, Nuphar japonicum, and Nymphaea tetragona (Nymphaeaceae); Illicium anisatum (Illiciaceae); and Kadsura japonica (Schisandraceae). Sequence analysis showed that a four amino acid deletion in the K domain, which was found in all previously reported angiosperm PI genes, exists in a PI homologue of Schisandraceae, but not in six PI homologues of the Amborellaceae, Cabombaceae, and Nymphaeaceae, suggesting that the Amborellaceae, Cabombaceae, and Nymphaeaceae are basalmost lineages in angiosperms. The results of molecular phylogenetic analyses were not inconsistent with this hypothesis. The AP3 and PI homologues from Amborella share a sequence of five amino acids in the 5 region of exon 7. Using the linearized tree and likelihood methods, the divergence time between the AP3 and PI lineages was estimated as somewhere between immediately after to several tens of millions of years after the split between angiosperms and extant gymnosperms. Estimates of the age of the most recent common ancestor of all extant angiosperms range from ~140–210 Ma, depending on the trees used and assumptions made.     

Starch-gel electrophoretic variants of erythrocyte 6-phosphogluconate dehydrogenase in asian macaques

Five alleles with eight electrophoretic phenotypes of 6-phosphogluconate dehydrogenase were found in 1,195 blood samples from fourteen populations of nine macaque species.Macaca fascicularis from Malaya showed the most polymorphism, with three Pgd alleles resulting in five phenotypes.Macaca mulatta, M. speciosa, M. nemestrina, andM. cyclopis had two alleles each (although the last two species showed a high percentage of homozygosity). The remaining four species (M. fuscata, M. radiata, M. maura, andM. nigra) were homozygous for the Pgd^a allele. The predominance of Pgd^a was observed in all macaque species, exceptM. speciosa which showed a high (57%) frequency of Pgd^d. The distinctive position ofM. speciosa with regard to 6PGD variants parallels observations that indicate that this species carries transferrin and carbonic anhydrase I alleles in different frequencies from those of the other macaque species. Other similarities between the patterns of transferrin and 6PGD variations include a tendency toward homozygosity at the Pgd locus in the insular macaque forms. However, in this case only the Pgd^a allele is involved, while some variation was found in the transferrin alleles fixed by the founder effect in the insular macaques.This research was supported by NSF grants GF 253, GB 7426, and GB 15060 of the U.S.-Japan Cooperative Science and Systematic Biology Programs.     

The Russian Gene Pool: Gene Geography of Serum Gene Markers (HP,GC,PI,and TF)

The study continues the series of works on the Russian gene pool. Gene geographic analysis of four serum gene markers best studied in the Russian population (HP, GC, PI, and TF) has been performed. Gene-geographic electronic maps have been constructed for 14 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of five alleles (HP*1, GC*2, GC*1S, PI*M2, and TF*C2) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.     

Blood markers and genetic evolution in Cercopithecinae

Serum proteins and RBC enzymes were surveyed in 16 species (183 animals) of African guenons (tribe Cercopithecini) in order to determine their genetic polymorphism and to establish dendrograms on the basis of their allele frequencies. The molecular data obtained were compared with those of mangabeys (16 animals tested) and discussed in the light of our results inPapio andMacaca. The species surveyed wereCercopithecus neglectus, C. hamlyni, C. l'hoesti (C. l'h. l'hoesti, C. l'h. preussi, andC. l'h. solatus), C. nictitans, C. mitis (C. m. kolbi, C. m. albotorquatus, C. m. stuhlmanni, andC. m. albogularis), C. cephus, C. ascanius, C. erythrotis, C. petaurista, C. mona, C. pogonias, C. wolfi, andC. aethiops, Miopithecus talapoin, Allenopithecus nigroviridis andErythrocebus patas, Lophocebus albigena, andCercocebus torquatus. Eleven loci (ten systems) were studied in red blood cell enzymes and the Gc, Gm, Km, and Bm systems in DBP and immunoglobulin serum proteins. Most of the loci were polymorphic. Similar and different polymorphisms occur in closely related species or subspecies, particularly inCercopithecus. Guenons have phenotypes clearly distinct from mangabeys.     

Genetic and molecular analysis of the dpy-14 region in Caenorhabditis elegans.

Summary Essential genes have been identified in the 1.5 map unit (m.u.)dpy-14-unc-29 region of chromosome I inCaenorhabditis elegans. Previous work defined nine genes with visible mutant phenotypes and nine genes with lethal mutant phenotypes. In this study, we have identified an additional 28 essential genes with 97 lethal mutations. The mutations were mapped using eleven duplication breakpoints, eight deficiencies and three-factor recombination experiments. Genes required for the early stages of development were common, with 24 of the 37 essential genes having mutant phenotypes arresting at an early larval stage. Most mutants of a gene have the same time of arrest; only four of the 20 essential genes with multiple alleles have alleles with different phenotypes. From the analysis of complementing alleles oflet-389, alleles with the same time-of-arrest phenotype were classified as either hypomorphic or amorphic. Mutants oflet-605, let-534 andunc-37 have both uncoordinated and lethal phenotypes, suggesting that these genes are required for the coordination of movement and for viability. The physical and genetic maps in thedpy-14 region were linked by positioning two N2/BO polymorphisms with respect to duplications in the region, and by localizing the right breakpoint of the deficiencyhDf8 on the physical map. Using cross-species hybridization toC. briggsae, ten regions of homology have been identified, eight of which are known to be coding regions, based on Northern analysis and/or the isolation of cDNA clones.     

Primate red cell enzymes: glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase

Glucose-6-phosphate dehydrogenase (E. C.: 1.1.1.49) phenotypes and 6-phosphogluconate dehydrogenase (E. C.: 1.1.1.44) phenotypes were determined by starch-gel electrophoresis of red cell hemolysates of Galago crassicaudatus subspp., Propithecus verreauxi, Lemur spp., Hapalemur griseus, and Macaca mulatta. A single glucose-6-phosphate dehydrogenase (G6PD) phenotype was found in each species. A single 6-phosphogluconate dehydrogenase (6PGD) phenotype was found in Lemur spp., Hapalemur griseus, and Galago crassicaudatus argentatus. In a group of six Propithecus verreauxi, three 6PGD phenotypes, PGD A, PGD AB, and PGD B, were found. Three phenotypes, PGD A, PGD AB, and PGD B, were found in 38 G. c. crassicaudatus. The three phenotypes in each species are apparently the products of two codominant autosomal alleles, PGD^A and PGD^B. The frequency of PGD^A in G. c. crassicaudatus is 0.263. A population of 260 free-ranging macaques displays a polymorphism at the 6PGD locus. Three phenotypes, PGD A, PGD AB, and PGD B, were found. These also appear to be controlled by two codominant autosomal alleles, PGD^A and PGD^B the frequency of PGD^A = 0.913. Additional analysis of three well-defined troops within the macaque population indicated that there are no significant differences between the troops or within the population at the 6PGD locus.     

Polymorphism of the sixth component of complement (C6) in the dog

Isoelectric focusing was used to identify five alleles at the locus determining the production of the sixth component of complement (C6) in the dog. Four of these alleles,C6 ¹, C6², C6⁴,andC6 ⁵,were studied in family pedigrees and shown to be inherited in a codominant autosomal fashion. All alleles except forC6 ⁴occurred commonly in the multiple breeds tested. This investigation was supported by Grant HL 17265 awarded by the National Institute of Heart, Lung, and Blood Diseases, DHEW, and by Grants CA 18105 and CA 31787 awarded by the National Cancer Institute.     

A phylogenetic analysis of anaerobic eubacteria capable of synthesizing acetate from carbon dioxide

Acetobacterium woodii, Acetogenium kivui, Clostridium aceticum, C. acidiurici, C. cylindrosporum, C. formicoaceticum, C. thermoaceticum, Eubacterium limosum, andPeptococcus glycinophilus were characterized by oligonucleotide cataloging of their 16S ribosomal RNA to determine whether the ability to synthesize acetate from CO₂ is a phylogenetic trait. The ability to synthesize acetate from CO₂ apparently is not a valid phylogenetic marker. TheEubacterium andPeptococcus species examined here are less related to other species in their genera than they are to different species ofClostridium. TheEubacterium species examined here show little relatedness to the genusPropionibacterium. The acetogenic eubacteria belong to the phylogenetic group defined basically by the Gram-positive sporeforming anaerobes.     

Genetic control of leucine aminopeptidase and esterase isozymes in the interspecific cross Cucurbita ecuadorensis x C. maxima

Starch gel electrophoretic analyses of crude seed extracts of Cucurbita ecuadorensis, C. maxima, their F₁ and F₂, and three of the four possible interspecific backcrosses reveal that the genus is polymorphic for alpha-naphthyl acetate esterases (Est) and leucine aminopeptidase (LAP). The two electrophoretic forms of both Est and LAP are controlled by codominant alleles. The two loci do not exhibit linkage. Neither the LAP nor the Est phenotypes exhibit a significant deviation from the expected 1:1 ratio in interspecific backcrosses when the donor parent alleles are transmitted through female gametes, but there is a significant deviation for Est when transmission is through male gametes. Differential gametic selection involving the Est-1 locus suggests structural differences between the genomes of the parental species for the chromosomal region in which this locus occurs. No structural differences are indicated between the parental genomes for the chromosome region bearing the Lap-1 locus.