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PubMed1990

Highly conserved upstream regions of the alpha 1-antitrypsin gene in two mouse species govern liver-specific expression by different mechanisms.

alpha 1-Antitrypsin (AT), the major elastase inhibitor in mammalian serum, is produced primarily in the liver. We have characterized AT gene structure and expression in the mouse species Mus caroli, which expresses high levels of AT in the kidneys as well as in the liver. Analysis of cDNA and genomic clones showed that the AT gene in M. caroli exhibits high sequence homology (greater than 90%) to the gene in laboratory mice (M. domesticus) throughout the coding and 5'-flanking regions. Despite this extensive sequence conservation, the functional organization of cis-acting regulatory elements governing liver-specific expression is strikingly different between these species. Transient-transfection assays showed that the proximal region of the M. caroli promoter (i.e., between -120 and -2 relative to the transcriptional start site) is 10-fold more active than the analogous region of M. domesticus in driving the expression of an indicator gene in cultured liver cells. The increased activity of the proximal region of the M. caroli AT promoter appears to be the result of one or both of the two base substitutions at positions -46 and -48. The weak proximal promoter in M. domesticus is compensated for by the presence of upstream, liver-specific enhancers between -199 and -520; the analogous region in M. caroli is inactive. Thus, during the course of evolution, the modest 7% sequence divergence that has occurred between the 5'-flanking regions of the AT genes in these two species has generated distinct, yet equally effective, modes of hepatocyte-specific expression.

Amino Acid Sequence↗
PubMed2003

Neuronal classes in the isocortex of a monotreme, the Australian echidna (Tachyglossus aculeatus).

We have used Valverde-Golgi and Golgi-Colonnier techniques to analyze cortical neuronal morphology in four regions (frontal cortex, primary motor cortex, primary somatosensory cortex, primary visual cortex) of the isocortex of the echidna (Tachyglossus aculeatus). Eight classes of neurons could be identified--pyramidal, spinous bipolar, aspinous bipolar, spinous bitufted, aspinous bitufted, spinous multipolar, aspinous multipolar and neurogliaform. All except the pyramidal neurons were morphologically similar to neuronal classes seen in eutherian and metatherian isocortex. Pyramidal neurons made up a small proportion of all cortical neurons encountered in our preparations of echidna cortex (34% in visual cortex, 35% in somatosensory cortex, 41% in frontal cortex and 49% in motor cortex) compared to both reported values in eutherian cortex and values we found in rat cortex impregnations prepared in an identical fashion to the echidna material (75% in rat motor and 78% in rat somatosensory cortex). Many pyramidal neurons in the echidna isocortex were atypical (30-42% depending on region) with inverted somata, short or branching apical dendrites and/or few basal dendrites, very different from the usual pyramidal neuron morphology in eutherian cortex. Dendritic spine density on apical and basal dendrites of echidna pyramidal neurons in somatosensory cortex and apical dendrites of motor cortex pyramidal neurons was also lower than that found in the rat. The present findings are consistent with both pyramidal neurons and the many diverse types of non-pyramidal neurons having already emerged as discrete morphological entities very early in mammalian cortical evolution, at the time of divergence of the therian and prototherian lineage.

Animals↗
PubMed2006

Inheritance of olfactory preferences I. Pheromone-mediated behavioral responses of Heliothis subflexa x Heliothis virescens hybrid male moths.

Shifts in male preference for qualitatively different pheromone blends appear to have played a fundamental role in the divergence of olfactory communication and evolution of moth species. As an initial step in documenting the genetic complexity underlying such shifts, we characterized the behavioral responses of hybrid male moths created by mating two heliothine moth species, Heliothis subflexa and Heliothis virescens. Between 67 and 96% of hybrid males flew upwind and contacted the pheromone source when presented with a blend consisting of (Z)-11-hexadecenal (Z11-16:Ald), (Z)-9-hexadecenal (Z9-16:Ald), and (Z)-11-hexadecenol (Z11-16:OH) in a 1:0.5:0.1 ratio that has previously been shown to be attractive to H. subflexa males. In addition, an H. virescens blend of Z11-16:Ald and (Z)-9-tetradecenal (Z9-14:Ald) enhanced by the addition of Z11-16:OH (in a 1:0.05:0.1 mixture) was attractive to hybrid males (26-64% source contact), but significantly fewer males reached the odor source compared to the blend containing Z9-16:Ald. A blend in which the dosage of Z9-14:Ald was doubled, however, was equally attractive (75-77% source contact) as the Z9-16:Ald-containing blend. Consecutive presentation of two blends revealed that individual hybrid males responded equally well to blends containing either Z9-14:Ald or Z9-16:Ald. Together these results suggest that in addition to Z11-16:Ald, hybrid males: (1) required either Z9-16:Ald (likeH. subflexamales) or Z9-14:Ald (like H. virescens males); (2) required the presence of Z11-16:OH (H. subflexa dominant); (3) were not adversely affected by the presence of Z11-16:Ac (H. subflexa dominant). The behavioral response phenotype of hybrid males was therefore influenced by genetic factors inherited from both parental species.

Animal Communication↗
PubMed1995

DWnt-4, a novel Drosophila Wnt gene acts downstream of homeotic complex genes in the visceral mesoderm.

Wnt genes encode putative cell signalling proteins which play crucial roles during development. From a library of DNA fragments associated, in vivo, with Ultrabithorax proteins, we isolated a novel Drosophila Wnt gene, DWnt-4. Neither a paralog nor an ortholog of the gene exist in the current repertoire of full-length Wnt sequences. DWnt-4 maps close (30 kb) to wingless, suggesting that the two Wnt genes derive from a duplication that occurred early in evolution, since they are significantly diverged in sequence and structure. Developmental expression of DWnt-4 partially overlaps that of wingless. The gene is transcribed following a segment polarity-like pattern in the posterior-most cells of each parasegment of the ectoderm, and at two locations that correspond to parasegments 4 and 8 of the visceral mesoderm. The control of DWnt-4 expression in the visceral mesoderm involves a network of regulatory molecules that includes Ultrabithorax and other proteins from the homeotic complex (HOM-C), as well as the TGF-beta decapentaplegic gene product.

Animals↗
PubMed2003

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics.

The soil nematodes Caenorhabditis briggsae and Caenorhabditis elegans diverged from a common ancestor roughly 100 million years ago and yet are almost indistinguishable by eye. They have the same chromosome number and genome sizes, and they occupy the same ecological niche. To explore the basis for this striking conservation of structure and function, we have sequenced the C. briggsae genome to a high-quality draft stage and compared it to the finished C. elegans sequence. We predict approximately 19,500 protein-coding genes in the C. briggsae genome, roughly the same as in C. elegans. Of these, 12,200 have clear C. elegans orthologs, a further 6,500 have one or more clearly detectable C. elegans homologs, and approximately 800 C. briggsae genes have no detectable matches in C. elegans. Almost all of the noncoding RNAs (ncRNAs) known are shared between the two species. The two genomes exhibit extensive colinearity, and the rate of divergence appears to be higher in the chromosomal arms than in the centers. Operons, a distinctive feature of C. elegans, are highly conserved in C. briggsae, with the arrangement of genes being preserved in 96% of cases. The difference in size between the C. briggsae (estimated at approximately 104 Mbp) and C. elegans (100.3 Mbp) genomes is almost entirely due to repetitive sequence, which accounts for 22.4% of the C. briggsae genome in contrast to 16.5% of the C. elegans genome. Few, if any, repeat families are shared, suggesting that most were acquired after the two species diverged or are undergoing rapid evolution. Coclustering the C. elegans and C. briggsae proteins reveals 2,169 protein families of two or more members. Most of these are shared between the two species, but some appear to be expanding or contracting, and there seem to be as many as several hundred novel C. briggsae gene families. The C. briggsae draft sequence will greatly improve the annotation of the C. elegans genome. Based on similarity to C. briggsae, we found strong evidence for 1,300 new C. elegans genes. In addition, comparisons of the two genomes will help to understand the evolutionary forces that mold nematode genomes.

Animals↗
PubMed2006

Unusual intron conservation near tissue-regulated exons found by splicing microarrays.

Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays designed to capture splicing information across the mouse genome. In a set of 22 adult tissues, we observe differential expression of RNA containing at least two alternative splice junctions for about 40% of the 6,216 alternative events we could detect. Statistical comparisons identify 171 cassette exons whose inclusion or skipping is different in brain relative to other tissues and another 28 exons whose splicing is different in muscle. A subset of these exons is associated with unusual blocks of intron sequence whose conservation in vertebrates rivals that of protein-coding exons. By focusing on sets of exons with similar regulatory patterns, we have identified new sequence motifs implicated in brain and muscle splicing regulation. Of note is a motif that is strikingly similar to the branchpoint consensus but is located downstream of the 5' splice site of exons included in muscle. Analysis of three paralogous membrane-associated guanylate kinase genes reveals that each contains a paralogous tissue-regulated exon with a similar tissue inclusion pattern. While the intron sequences flanking these exons remain highly conserved among mammalian orthologs, the paralogous flanking intron sequences have diverged considerably, suggesting unusually complex evolution of the regulation of alternative splicing in multigene families.

Adaptor Proteins, Signal Transducing↗
PubMed2005

Molecular population genetics of accessory gland protein genes and testis-expressed genes in Drosophila mojavensis and D. arizonae.

Molecular population genetic investigation of Drosophila male reproductive genes has focused primarily on melanogaster subgroup accessory gland protein genes (Acp's). Consistent with observations from male reproductive genes of numerous taxa, Acp's evolve more rapidly than nonreproductive genes. However, within the Drosophila genus, large data sets from additional types of male reproductive genes and from different species groups are lacking. Here we report findings from a molecular population genetics analysis of male reproductive genes of the repleta group species, Drosophila arizonae and D. mojavensis. We find that Acp's have dramatically higher average pairwise Ka/Ks (0.93) than testis-enriched genes (0.19) and previously reported melanogaster subgroup Acp's (0.42). Overall, 10 of 19 Acp's have Ka/Ks > 1 either in nonpolarized analyses or in at least one lineage of polarized analyses. Of the nine Acp's for which outgroup data were available, average Ka/Ks was considerably higher in D. mojavensis (2.08) than in D. arizonae (0.87). Contrasts of polymorphism and divergence suggest that adaptive protein evolution at Acp's is more common in D. mojavensis than in D. arizonae.

Animals↗
PubMed2000

Strategies for searching sequence databases.

We provide a detailed overview of the choices inherent in performing a sequence database search, including the choice of algorithm, substitution matrix and gap model. Each of these choices has implications that can be described as restrictions on the underlying model of sequence evolution, the expected degree of divergence between the query sequence and the database sequences (if one uses an evolutionary based matrix), as well as the sensitivity and selectivity of the search. We conclude with a series of recommendations for researchers performing these searches based on our experience and literature studies.

Algorithms↗
PubMed1999

[Characteristics of the cDNA of the Schizosaccharomyces pombe rpa43+ gene: structural similarity of the Rpa43 subunit of RNA-polymerase I with the Rpc25 subunit of RNA-polymerase III].

We isolated and characterized full-length cDNA of the rpa43+ gene encoding one of subunits of the nuclear RNA polymerase I of Schizosaccharomyces pombe. The gene contains two introns and is located on chromosome II. Comparison of the primary structure of the subunit Rpa43 of Sz. pombe (173 aa; M 19,385 Da; pl 5.36), deduced from the cDNA obtained, with the amino acid sequences of subunits A43 from Saccharomyces cerevisiae and Drosophila melanogaster demonstrates a high divergence of this protein in evolution. A comparison of the Rpa43 with other proteins from the SwissProt database revealed a similarity of this subunit to subunit Rpc25 of RNA polymerase III, which, as was shown previously, is structurally similar to subunit Rpb7 of RNA polymerase II. Thus, including the Rpa43<-->Rpc25<-->Rpb7 family, nuclear RNA polymerases I-III contain at least 11 identical and/or similar subunits. This fact illustrates a pronounced resemblance of the organization of all three enzymes of the eukaryotic transcription apparatus. Moreover, at least ten out of these eleven families of eukaryotic RNA polymerase subunits have homologues in the 13-subunit archaeal RNA polymerase.

Amino Acid Sequence↗
PubMed1987

Operations upon the biliary tract during transplantation of the liver.

Operation upon the biliary tract is a discipline within transplantation of the liver. There exists a background of basic science information concerning anatomy and physiology, an historical evolution of surgical techniques, a divergence of contemporary opinion regarding preferred approaches and a body of well described complications. The complication rate, once more than one-half with substantial contribution to mortality rates, now ranges from approximately 15 to 25 per cent. Current practice in most institutions is to use choledochocholedochostomy with T-tube stent when a recipient duct is present and Roux-en-Y choledochojejunostomy with internal stent when a suitable recipient duct is absent. Hepatic arterial thrombosis is an important cause of complications of the biliary tract. The overlap of symptoms and signs of rejection with those of biliary sepsis and other complications of the biliary tract underscores the need for algorithmic use of diagnostic modalities in the post-transplant period.

Biliary Tract Surgical Procedures↗
PubMed1985

Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones.

We have isolated essentially full-length cDNA clones for human ferritin H and L chains from a human liver cDNA library. This allows the first comparison of H and L nucleotide and amino acid sequences from the same species as well as ferritin L cDNA sequences from different species. We conclude that human H and L ferritins are related proteins which diverged about the time of evolution of birds and mammals. We also deduce the secondary structure of the H and L subunits and compare this with the known structure of horse spleen ferritin. We find that residues involved in subunit interaction in shell assembly are highly conserved in H and L sequences. However, we find several interesting differences in H subunits at the amino acid residues involved in iron transport and deposition. These substitutions could account for known differences in the uptake, storage, and release of iron from isoferritins of different subunit composition.

Amino Acid Sequence↗
PubMed1983

Organization, structure, and expression of the goat globin genes.

Several hemoglobin switches occur during the development of the goat, making this a useful animal for the study of globin gene expression. In order to help understand the basis for these switches, we have isolated the beta-globin genes of the goat by recombinant DNA technology and characterized these genes with respect to linkage, nucleotide sequence, and expression. The linkage arrangement so far established is epsilon I-epsilon II-psi beta X-beta C-epsilon III-epsilon IV-psi beta Z-beta A-epsilon V. It is proposed that epsilon V is followed by epsilon VI-psi beta-gamma, but so far this linkage has not been established. Several conclusions can be drawn from our findings to date. First, the beta- and gamma-globin genes of the goat have a very different evolutionary history from the beta- and gamma-globin genes of humans. While the beta and gamma genes of the human can be traced to a duplication of the ancestral epsilon/beta-globin gene before the mammalian radiation, the goat beta and gamma genes have arisen much later, and are probably the results of a duplication of a four-gene set, namely the epsilon-epsilon-psi beta-beta primordial linkage group. The beta C gene probably arose from a similar, even later duplication of the non-gamma quadruplet. Because the beta C, beta A, and gamma genes of the goat have diverged much more recently in evolution, they are much more homologous than the equivalent genes in other species. In fact, there are large regions of these genes that share identical sequences. This is meaningful in that regions of sequence identity define areas that cannot be involved in the developmental regulation of these genes.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed2005

Natural selection during functional divergence to LMP7 and proteasome subunit X (PSMB5) following gene duplication.

The LMP7 and PSMB5 genes were created through an ancient gene duplication event of their ancestral locus. These proteins contain an active site of proteolysis, and LMP7 replaces PSMB5 as a component of the 20S proteasome after stimulation of cells by interferon-gamma. Replacement of PSMB5 by LMP7 changes the profile of the products of 20S proteasome processing, predisposing digested peptides for transport to and display by the immune system. The purpose of this study is to investigate evolutionary forces influencing functional divergence between LMP7 and PSMB5 following duplication. Levels of synonymous and nonsynonymous substitution rates are estimated to infer differences in levels of natural selection. Estimates of substitution rates indicate that natural selection elevated rates of nonsynonymous substitution in LMP7 following gene duplication, whereas PSMB5 experienced an increase in substitution rate that was not likely due to diversifying natural selection following duplication. Following initial divergence, nearly neutral mutations have dominated gene evolution in both lineages. The LMP7 gene locus provides a rare example of a protein with specialized function arising from duplication and divergence of a housekeeping protein by way of natural selection.

Animals↗
PubMed1986

Photosynthetic phagotrophy of Chrysophyceae: evolutionary aspects.

Phagotrophy must have arisen fundamentally in all eukaryotes. Chrysophyceae, which exhibit both phagocytosis and photosynthesis, are an interesting subject for evolutionary study. On the basis of a handful of articles, we boldly assumed that Ochromonas and Uroglena are in an intermediate stage of evolution towards animal cells and will evolve a divergent dichotomy in future.

Biological Evolution↗
PubMed2006

Genetic population structure and call variation in a passerine bird, the satin bowerbird, Ptilonorhynchus violaceus.

Geographic variation in vocalizations is widespread in passerine birds, but its origins and maintenance remain unclear. One hypothesis to explain this variation is that it is associated with geographic isolation among populations and therefore should follow a vicariant pattern similar to that typically found in neutral genetic markers. Alternatively, if environmental selection strongly influences vocalizations, then genetic divergence and vocal divergence may be disassociated. This study compared genetic divergence derived from 11 microsatellite markers with a metric of phenotypic divergence derived from male bower advertisement calls. Data were obtained from 16 populations throughout the entire distribution of the satin bowerbird, an Australian wet-forest-restricted passerine. There was no relationship between call divergence and genetic divergence, similar to most other studies on birds with learned vocalizations. Genetic divergence followed a vicariant model of evolution, with the differentiation of isolated populations and isolation-by-distance among continuous populations. Previous work on Ptilonorhynchus violaceus has shown that advertisement call structure is strongly influenced by the acoustic environment of different habitats. Divergence in vocalizations among genetically related populations in different habitats indicates that satin bowerbirds match their vocalizations to the environment in which they live, despite the homogenizing influence of gene flow. In combination with convergence of vocalizations among genetically divergent populations occurring in the same habitat, this shows the overriding importance that habitat-related selection can have on the establishment and maintenance of variation in vocalizations.

Animals↗
PubMedDate not supplied

Neuroglobin and cytoglobin: genes, proteins and evolution.

Hemoglobin and myoglobin are oxygen transport and storage proteins of most vertebrates. Neuroglobin (Ngb) and cytoglobin (Cygb)--two recent additions to the vertebrate globin superfamily--have still disputed functions. Combining the data from all available resources, we investigate the evolution of these novel globins. Both Ngb and Cygb show little sequence variation in vertebrate evolution, suggesting conserved structures and functions, and an important role in the animal's metabolism. Exon-intron patterns remained unchanged in Ngb and Cygb, with the exception of the addition of a 3' exon to Cygb early in mammalian evolution. In phylogenetic analyses, Ngb forms a common branch with globin X, another recently identified globin with undefined function in lower vertebrates, and with some invertebrate nerve globins. This shows an early divergence of this branch in animal evolution. Cygb is related to myoglobin, and associated with an eye-specific globin from birds. The pattern of globin evolution shows that proteins with clear respiratory roles evolved independently from intracellular globins with uncertain functions. This result suggests either multiple independent functional changes or a yet undefined respiratory role of tissue globins like Ngb and Cygb.

Amino Acid Sequence↗
PubMed1998

A role of Ultrabithorax in morphological differences between Drosophila species.

The mechanisms underlying the evolution of morphology are poorly understood. Distantly related taxa sometimes exhibit correlations between morphological differences and patterns of gene expression, but such comparisons cannot establish how mechanisms evolve to generate diverse morphologies. Answers to these questions require resolution of the nature of developmental evolution within and between closely related species. Here I show how the detailed regulation of the Hox gene Ultrabithorax patterns trichomes on the posterior femur of the second leg in Drosophila melanogaster, and that evolution of Ultrabithorax has contributed to divergence of this feature among closely related species. The cis-regulatory regions of Ultrabithorax, and not the protein itself, appear to have evolved. This study provides experimental evidence that cis-regulatory evolution is one way in which conserved proteins have promoted morphological diversity.

Alleles↗
PubMed2003

Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family.

L1P_MA2 is a primate-specific subfamily of L1 retrotransposons. The consensus sequence of this element differs from the canonical L1 consensus by the presence of a 3800-bp region in 5' (L1M1_5). Part of this region has been proposed to be involved in a dystrophin mutation affecting the correct splicing of the gene and causing an X-linked dilated cardiomyopathy. In consideration of the potential involvement in splicing regulation of this element and also because of its atypical structure, we investigated its evolutionary history by analyzing the inter- and intraspecific divergence of L1P_MA2 sequences in various species of primates. The resulting phylogenetic trees show long terminal branches and short basal internodes, as expected for a rapid event of diversification that occurred in the past. The phylogenetic analysis and the intraspecific divergence estimates revealed a pattern of evolution for this element similar in all primates with the exception of lemurs, thus suggesting that the major wave of expansion of L1P_MA2 in primate genomes occurred after the divergence between Prosimiae and Anthropoidea. These results clearly indicate that a phylogenetic approach is more appropriate than methods based on sequence data from a single species, when investigating time and mode of evolution of retro-elements.

Animals↗