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1.
We conducted comprehensive sequence analysis of 5′ flanking regions of primate Alu elements. Information contents were computed and frequencies of 1024 pentanucleotides were measured to approximate the location
of a characteristic sequence and to specify its pattern(s), which may be involved in the integration of Alu elements into their host genomes. A large number of samples was used, the wide region of the 5′ end of Alu elements was analyzed, and comparisons were made among different subfamilies. Through our analyses, ``TTTTAAAAA' or ``(T)
m
(A)
n
' can be stated as a candidate for the characteristic sequence pattern, which resides around the region 5 to 20 base pairs
upstream of the 5′ end of Alu elements. This characteristic sequence pattern was more prominent in the sequences of younger Alus, which is a strong indication that the sequence pattern has a role at the time of Alu integration.
Received: 10 May 1999 / Accepted: 1 October 1999 相似文献
2.
The class I region of the major histocompatibility complex contains two subgenomic blocks (250–350 kb each), known as the
alpha and beta blocks. These blocks contain members of multicopy gene families including HLA class I, HERV-16 (previously
called P5 sequences), and PERB11 (MIC). We have previously shown that each block consists of imperfect duplicated segments
(duplicons) containing linked members of different gene families, retroelements and transposons that have coevolved as part
of two separate evolutionary events. Another region provisionally designated here as the kappa block is located between the
alpha and the beta blocks and contains HLA-E, -30, and -92, HERV-16 (P5.3), and PERB11.3 (MICC) within about 250 kb of sequence.
Using Alu elements to trace the evolutionary relationships between different class I duplicons, we have found that (a) the
kappa block contains paralogous (duplicated) Alu J sequences and other retroelement patterns more in common with the beta
than the alpha block; (b) the retroelement pattern associated with the HLA-E duplicon is different from all other HLA class
I duplicons, indicating a more complex evolution; (c) the HLA-92 duplicon, although substantially shorter, is closely related
in sequence to the HLA-B and -C duplicons; (d) two of the six paralogous Alu J elements within the HLA-B and -C duplicons
are associated with the HLA-X duplicon, confirming their evolutionary relationships within the beta block; and (e) the paralogous
Alu J elements within the alpha block are distinctly different from those identified within the beta and kappa blocks. The
sequence conservation and location of duplicated (paralogous) Alu J elements in the MHC class I region show that the beta
and kappa blocks have evolved separately from the alpha block beginning at a time before or during the evolution of Alu J
elements in primates.
Received: 22 September 1999 / Accepted: 24 January 2000 相似文献
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5.
Boris V. Skryabin Joachim Kremerskothen Dido Vassilacopoulou Todd R. Disotell Vladimir V. Kapitonov Jerzy Jurka Jürgen Brosius 《Journal of molecular evolution》1998,47(6):677-685
The gene encoding BC200 RNA arose from a monomeric Alu element. Subsequently, the RNA had been recruited or exapted into
a function of the nervous system. Here we confirm the presence of the BC200 gene in several primate species among the Anthropoidea.
The period following the divergence of New World monkeys and Old World monkeys from their common ancestor is characterized
by a significantly higher substitution rate in the examined 5′ flanking region than in the BC200 RNA coding region itself.
Furthermore, the conservation of CpG dimers in the RNA coding region (200 bp) is drastically increased compared to the 5′
flanking region (∼400 bp) over all 12 species examined. Finally, the brain-specific expression pattern of BC200 RNA and its
presence as a ribonucleoprotein particle (RNP) are conserved in Old World and New World monkeys. Our studies indicate that
the gene encoding BC200 RNA was created at least 35–55 million years ago and its presence, mode of expression, and association
with protein(s) as an RNP are under selective pressure.
Received: 1 December 1997 / Accepted: 3 June 1998 相似文献
6.
Moulton V Gardner PP Pointon RF Creamer LK Jameson GB Penny D 《Journal of molecular evolution》2000,51(4):416-421
Opinion is strongly divided on whether life arose on earth under hot or cold conditions, the hot-start and cold-start scenarios,
respectively. The origin of life close to deep thermal vents appears as the majority opinion among biologists, but there is
considerable biochemical evidence that high temperatures are incompatible with an RNA world. To be functional, RNA has to
fold into a three-dimensional structure. We report both theoretical and experimental results on RNA folding and show that
(as expected) hot conditions strongly reduce RNA folding. The theoretical results come from energy-minimization calculations
of the average extent of folding of RNA, mainly from 0–90°C, for both random sequences and tRNA sequences. The experimental
results are from circular-dichroism measurements of tRNA over a similar range of temperatures. The quantitative agreement
between calculations and experiment is remarkable, even to the shape of the curves indicating the cooperative nature of RNA
folding and unfolding. These results provide additional evidence for a lower temperature stage being necessary in the origin
of life.
Received: 1 March 2000 / Accepted: 14 June 2000 相似文献
7.
We have analyzed all currently sequenced eukaryotic proteins containing either a kinase module or a receiver module, corresponding
to those found in bacterial sensor kinases or response regulators, respectively, of the so-called two-component regulatory
systems. We demonstrate that the eukaryotic receiver modules belong to a single subfamily of the bacterial receiver modules.
Moreover, the cognate eukaryotic kinase modules exhibit a similar clustering pattern on the sensor kinase phylogenetic tree,
suggesting that they evolved in parallel with the receiver modules from a common ancestral source that bore both modules.
Multiple alignments of the sequences corresponding to these modules are presented and discussed, and eukaryotic-specific signature
sequences are derived.
Received: 18 October 1995 / Accepted: 16 December 1996 相似文献
8.
Retrovirus-like sequences and their solitary (solo) long terminal repeats (LTRs) are common repetitive elements in eukaryotic
genomes. We reported previously that the tandemly arrayed genes encoding U2 snRNA (the RNU2 locus) in humans and apes contain a solo LTR (U2-LTR) which was presumably generated by homologous recombination between
the two LTRs of an ancestral provirus that is retained in the orthologous baboon RNU2 locus. We have now sequenced the orthologous U2-LTRs in human, chimpanzee, gorilla, orangutan, and baboon and examined numerous
homologs of the U2-LTR that are dispersed throughout the human genome. Although these U2-LTR homologs have been collectively
referred to as LTR13 in the literature, they do not display sequence similarity to any known retroviral LTRs; however, the
structure of LTR13 closely resembles that of other retroviral LTRs with a putative promoter, polyadenylation signal, and a
tandemly repeated 53-bp enhancer-like element. Genomic blotting indicates that LTR13 is primate-specific; based on sequence
analysis, we estimate there are about 2,500 LTR13 elements in the human genome. Comparison of the primate U2-LTR sequences
suggests that the homologous recombination event that gave rise to the solo U2-LTR occurred soon after insertion of the ancestral
provirus into the ancestral U2 tandem array. Phylogenetic analysis of the LTR13 family confirms that it is diverse, but the
orthologous U2-LTRs form a coherent group in which chimpanzee is closest to the humans; orangutan is a clear outgroup of human,
chimpanzee, and gorilla; and baboon is a distant relative of human, chimpanzee, gorilla, and orangutan. We compare the LTR13
family with other known LTRs and consider whether these LTRs might play a role in concerted evolution of the primate RNU2 locus.
Received: 29 September 1997 / Accepted: 16 January 1998 相似文献
9.
We studied the evolutionary history of two homologous proteins of the human complement system, factor H (FH) and the α chain
of the C4b binding protein (C4bpα), and included in this study the related proteins from the barred sand bass (P. nebulifer) and the nematode C. elegans. Phylogenetic trees inferred from individual short consensus repeats (SCRs) and divergence among repeats from different genes
suggest that human FH has a much closer evolutionary relationship to putative complement components from P. nebulifer and C. elegans than does the C4bpα. This indicates that a member of the alternative pathway of the complement system (FH) has an ancient
origin, while a homologous member of the classical pathway (C4bpα) appeared later in evolutionary history as a result of gene
duplication. The ancient evolutionary position of FH is in agreement with the suggestion that the alternative pathway of the
complement system is older than the classical pathway. Phylogenetic analysis also shows that the sand bass cofactor protein
SBP1 and cofactor related protein SBCRP-1 have diverged very recently.
Received: 1 December 1997 / Accepted: 3 June 1998 相似文献
10.
Kazuhiko Takahashi Mutsumi Nishida Masahide Yuma Norihiro Okada 《Journal of molecular evolution》2001,53(4-5):496-507
Lake Malawi is home to more than 450 species of endemic cichlids, which provide a spectacular example of adaptive radiation.
To clarify the phylogenetic relationships among these fish, we examined the presence and absence of SINEs (short interspersed
repetitive elements) at orthologous loci. We identified six loci at which a SINE sequence had apparently been specifically
inserted by retroposition in the common ancestor of all the investigated species of endemic cichlids in Lake Malawi. At another
locus, unique sharing of a SINE sequence was evident among all the investigated species of endemic non-Mbuna cichlids with
the exception of Rhamphochromis sp. The relationships were in good agreement with those deduced in previous studies with various different markers, demonstrating
that the SINE method is useful for the elucidation of phylogenetic relationships among cichlids in Lake Malawi. We also characterized
a locus that exhibited transspecies polymorphism with respect to the presence or absence of the SINE sequence among non-Mbuna
species. This result suggests that incomplete lineage sorting and/or interspecific hybridization might have occurred or be
occurring among the species in this group, which might potentially cause misinterpretation of phylogenetic data, in particular
when a single-locus marker, such as a sequence in the mitochondrial DNA, is used for analysis.
Received: 15 December 2000 / Accepted: 30 January 2001 相似文献
11.
Kulski JK Martinez P Longman-Jacobsen N Wang W Williamson J Dawkins RL Shiina T Naruse T Inoko H 《Journal of molecular evolution》2001,53(2):114-123
The AluYb8 sequences are a subfamily of short interspersed Alu retroelements that have been amplified within the human genome during recent evolutionary time and are useful polymorphic
markers for studies on the origin of human populations. We have identified a new member of the Yb8 subfamily, AluyHG, located between the HLA-H and -G genes and 88-kb telomeric of the highly polymorphic HLA-A gene within the alpha block
of the major histocompatibility complex (MHC). The AluyHG element was characterised with a view to examining the association between AluyHG and HLA-A polymorphism and reconstructing the history of the MHC alpha block. A specific primer pair was designed for
a simple PCR assay to detect the absence or presence (dimorphism) of the AluyHG element within the DNA samples prepared from a panel of 46 homozygous cell-lines containing complete or recombinant ancestral
haplotypes (AH) of diverse ethnic origin and 92 Caucasoid and Asian subjects on which HLA-A typing was available. The AluyHG insertion was most strongly associated with HLA-A2 and, to a lesser degree with HLA-A1, -A3, -A11, and A-19. The gene
frequency of the AluyHG insertion for 146 Caucasians and 94 Chinese-Han was 0.30 and 0.32 and there was no significant difference between the
observed and expected frequencies. The results of the association studies and the phylogenetic analysis of HLA-A alleles suggest
that the AluyHG sequence was integrated within the progenitor of HLA-A2, but has been transferred by recombination to other human ancestral
populations. In this regard, the dimorphic AluyHG element is an important diagnostic marker for HLA association studies and could help in elucidating the evolution and
functions of the MHC alpha block and polymorphism within and between ancestral haplotypes.
Received: 7 December 2000 / Accepted: 28 February 2001 相似文献
12.
This study presents the first global, 1-Mbp-level analysis of patterns of nucleotide substitutions along the human lineage. The study is based on the analysis of a large amount of repetitive elements deposited into the human genome since the mammalian radiation, yielding a number of results that would have been difficult to obtain using the more conventional comparative method of analysis. This analysis revealed substantial and consistent variability of rates of substitution, with the variability ranging up to twofold among different regions. The rates of substitutions of C or G nucleotides with A or T nucleotides vary much more sharply than the reverse rates, suggesting that much of that variation is due to differences in mutation rates rather than in the probabilities of fixation of C/G vs. A/T nucleotides across the genome. For all types of substitution we observe substantially more hotspots than coldspots, with hotspots showing substantial clustering over tens of Mbp’s. Our analysis revealed that GC-content of surrounding sequences is the best predictor of the rates of substitution. The pattern of substitution appears very different near telomeres compared to the rest of the genome and cannot be explained by the genome-wide correlations of the substitution rates with GC content or exon density. The telomere pattern of substitution is consistent with natural selection or biased gene conversion acting to increase the GC-content of the sequences that are within 10–15 Mbp away from the telomere.Reviewing Editor: Dr. Jerzy Jurka
This revised version was published online in July 2005 with corrected page numbers. 相似文献
This revised version was published online in July 2005 with corrected page numbers. 相似文献
13.
Here we describe a new short retroposon family of rodents. Like the primate Alu element consisting of two similar monomers,
it is dimeric, but the left and right monomers are different and descend from B1 and ID short retroposons, respectively. Such
elements (B1-dID) were found in the genomes of Gliridae, Sciuridae, Castoridae, Caviidae, and Hystricidae. Nucleotide sequences
of this retroposon can be assigned to several structural variants. Phylogenetic analysis of B1-dID and related sequences suggests
a possible scenario of B1-dID evolution in the context of rodent evolution.
Received: 30 August 1999 / Accepted: 20 March 2000 相似文献
14.
Evolution of secondary structure in the family of 7SL-like RNAs 总被引:8,自引:0,他引:8
Primate and rodent genomes are populated with hundreds of thousands copies of Alu and B1 elements dispersed by retroposition, i.e., by genomic reintegration of their reverse transcribed RNAs. These, as well as primate BC200 and rodent 4.5S RNAs, are ancestrally related to the terminal portions of 7SL RNA sequence. The secondary structure of 7SL RNA (an integral component of the signal recognition particle) is conserved from prokaryotes to distant eukaryotic species. Yet only in primates and rodents did this molecule give rise to retroposing Alu and B1 RNAs and to apparently functional BC200 and 4.5S RNAs. To understand this transition and the underlying molecular events, we examined, by comparative analysis, the evolution of RNA structure in this family of molecules derived from 7SL RNA.RNA sequences of different simian (mostly human) and prosimian Alu subfamilies as well as rodent B1 repeats were derived from their genomic consensus sequences taken from the literature and our unpublished results (prosimian and New World Monkey). RNA secondary structures were determined by enzymatic studies (new data on 4.5S RNA are presented) and/or energy minimization analyses followed by phylogenetic comparison. Although, with the exception of 4.5S RNA, all 7SL-derived RNA species maintain the cruciform structure of their progenitor, the details of 7SL RNA folding domains are modified to a different extent in various RNA groups. Novel motifs found in retropositionally active RNAs are conserved among Alu and B1 subfamilies in different genomes. In RNAs that do not proliferate by retroposition these motifs are modified further. This indicates structural adaptation of 7SL-like RNA molecules to novel functions, presumably mediated by specific interactions with proteins; these functions were either useful for the host or served the selfish propagation of RNA templates within the host genome.Abbreviations FAM
fossil Alu element
- FLAM
free left Alu monomer
- FRAM
free right Alu monomer
- L-Alu
left Alu subunit
- R-Alu
right Alu subunit
Correspondence to: D. LabudaDedicated to Dr. Robert Cedergren on the occasion of his 25th anniversary at the University of Montreal 相似文献
15.
Short Retroposons of the B2 Superfamily: Evolution and Application for the Study of Rodent Phylogeny
Short retroposons can be used as natural phylogenetic markers. By means of hybridization and PCR analysis, we demonstrate
that B2 retroposon copies are present only in the three rodent families: Muridae, Cricetidae, and Spalacidae. This observation
highlights the close phylogenetic relation between these families. Two novel B2-related retroposon families, named DIP and
MEN elements, are described. DIP elements are found only in the genomes of jerboas (family Dipodidae) and birch mice (family
Zapodidae), demonstrating the close relationship between these rodents. MEN element copies were isolated from the squirrel,
Menetes berdmorei, but were not detected in three other species from the family Sciuridae. The MEN element has an unusual dimeric structure:
the left and right monomers are B2- and B1-related sequences, respectively. Comparison of the B2, DIP, MEN, and 4.5S1 RNA elements revealed an 80-bp core sequence located at the beginning of the B2 superfamily retroposons. This observation
suggests that these retroposon families descended from a common progenitor. A likely candidate for this direct progenitor
could be the ID retroposon.
Received: 20 December 1996 / Accepted: 17 June 1997 相似文献
16.
Zoltán Szabó Simona A. Levi-Minzi Angela M. Christiano Carole Struminger Mark Stoneking Mark A. Batzer Charles D. Boyd 《Journal of molecular evolution》1999,49(5):664-671
Previous evidence has demonstrated the absence of exons 34 and 35 within the 3′ end of the human tropoelastin (ELN) gene.
These exons encode conserved polypeptide domains within tropoelastin and are found in the ELN gene in vertebrate species ranging
from chickens to rats to cows. We have analyzed the ELN gene in a variety of primate species to determine whether the absence
of exons 34 and 35 in humans either is due to allelic variation within the human population or is a general characteristic
of the Primates order. An analysis of the 3′ end of the ELN gene in several nonhuman primates and in 546 chromosomes from
humans of varying ethnic background demonstrated a sequential loss of exons 34 and 35 during primate evolution. The loss of
exon 35 occurred at least 35–45 million years ago, when Catarrhines diverged from Platyrrhines (New World monkeys). Exon 34 loss, in contrast, occurred only about 6–8 million years ago, when Homo separated from the common ancestor shared with chimpanzees and gorillas. Loss of both exons was probably facilitated by Alu-mediated
recombination events and possibly conferred a functional evolutionary advantage in elastic tissue.
Received: 6 July 1998 / Accepted: 18 February 1999 相似文献
17.
We compared the codon usage of sequences of transposable elements (TEs) with that of host genes from the species Drosophila melanogaster, Arabidopsis thaliana, Caenorhabditis elegans, Saccharomyces cerevisiae, and Homo sapiens. Factorial correspondence analysis showed that, regardless of the base composition of the genome, the TEs differed from the
genes of their host species by their AT-richness. In all species, the percentage of A + T on the third codon position of the
TEs was higher than that on the first codon position and lower than that in the noncoding DNA of the genomes. This indicates
that the codon choice is not simply the outcome of mutational bias but is also subject to selection constraints. A tendency
toward higher A + T on the third position than on the first position was also found in the host genes of A. thaliana, C. elegans, and S. cerevisiae but not in those of D. melanogaster and H. sapiens. This strongly suggests that the AT choice is a host-independent characteristic common to all TEs. The codon usage of TEs
generally appeared to be different from the mean of the host genes. In the AT-rich genomes of Arabidopsis thaliana, Caenorhabditis elegans, and Saccharomyces cerevisiae, the codon usage bias of TEs was similar to that of weakly expressed genes. In the GC-rich genome of D. melanogaster, however, the bias in codon usage of the TEs clearly differed from that of weakly expressed genes. These findings suggest
that selection acts on TEs and that TEs may display specific behavior within the host genomes.
Received: 2 May 2001 / Accepted: 29 October 2001 相似文献
18.
Wei Huang Benny H.-J. Chang Xun Gu David Hewett-Emmett W.-H. Li 《Journal of molecular evolution》1997,44(4):463-465
To study sex differences in mutation rate in primates, we sequenced the third introns of the AMGX and AMGY genes from humans,
orangutans, and squirrel monkeys and estimated that the male-to-female ratio of mutation rate is α= 5.14 with the 95% confidence
interval (2.42, 16.6). Combining this data set and the data sets from ZFX/ZFY and SMCX/SMCY introns, we obtained an estimate
of α= 5.06 with the 95% confidence interval reduced to (3.24, 8.79). The α value is significantly higher in higher primates
than in rodents.
Received: 19 August 1996 / Accepted: 22 November 1996 相似文献
19.
Anton Karabinos Debashish Bhattacharya Hartmut D. Kratzin Norbert Hilschmann 《Journal of molecular evolution》1998,46(3):327-333
The human protein NEFA binds calcium, contains a leucine zipper repeat that does not form a homodimer, and is proposed (along
with the homologous Nuc protein) to have a common evolutionary history with an EF-hand ancestor. We have isolated and characterized
the N-terminal domain of NEFA that contains a signal sequence inferred from both endoproteinase Asp-N (Asp-N) and tryptic
digests. Analysis of this N-terminal sequence shows significant similarity to the conserved multiple domains of the mitochondrial
carrier family (MCF) proteins. The leader sequence of Nuc is, however, most similar to the signal sequences of membrane and/or
secreted proteins (e.g., mouse insulin-like growth factor receptor). We suggest that the divergent NEFA and Nuc N-terminal
sequences may have independent origins and that the common high hydrophobicity governs their targeting to the ER. These results
provide insights into signal sequence evolution and the multiple origins of protein targeting.
Received: 20 February 1997 / Accepted: 28 July 1997 相似文献
20.
Carmen Di Franco Alessandro Terrinoni Patrizio Dimitri Nikolaj Junakovic 《Journal of molecular evolution》1997,45(3):247-252
The elements of the Bari 1, hobo, and pogo transposon families that are located in euchromatin, heterochromatin, and on the Y chromosome have been identified, and their
stability has been assessed by Southern blot analysis. The fraction of heterochromatic elements appears to be distinctive
of all transposon families tested, except for Bari 1. Evidence for instability of heterochromatic elements is described. The
analysis of unstable elements in different Drosophila stocks suggests that the host genome contributes to the stability/instability of transposon families.
Received: 21 August 1996 / Accepted: 24 March 1997 相似文献