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Evolution of three parent genes and their retrogene copies in Drosophila species. 果蝇三种亲本基因的进化及其逆转录。
Pub Date : 2013-01-01 Epub Date: 2013-06-05 DOI: 10.1155/2013/693085
Ryan S O'Neill, Denise V Clark

Retrogenes form a class of gene duplicate lacking the regulatory sequences found outside of the mRNA-coding regions of the parent gene. It is not clear how a retrogene's lack of parental regulatory sequences affects the evolution of the gene pair. To explore the evolution of parent genes and retrogenes, we investigated three such gene pairs in the family Drosophilidae; in Drosophila melanogaster, these gene pairs are CG8331 and CG4960, CG17734 and CG11825, and Sep2 and Sep5. We investigated the embryonic expression patterns of these gene pairs across multiple Drosophila species. Expression patterns of the parent genes and their single copy orthologs are relatively conserved across species, whether or not a species has a retrogene copy, although there is some variation in CG8331 and CG17734. In contrast, expression patterns of the retrogene orthologs have diversified. We used the genome sequences of 20 Drosophila species to investigate coding sequence evolution. The coding sequences of the three gene pairs appear to be evolving predominantly under negative selection; however, the parent genes and retrogenes show some distinct differences in amino acid sequence. Therefore, in general, retrogene expression patterns and coding sequences are distinct compared to their parents and, in some cases, retrogene expression patterns diversify.

逆转录基因形成一类缺乏在亲本基因mrna编码区外发现的调控序列的基因副本。目前尚不清楚逆转录基因缺乏亲代调控序列如何影响基因对的进化。为了探讨亲本基因和逆转录基因的进化,我们研究了果蝇科3对逆转录基因;在黑腹果蝇中,这些基因对分别是CG8331和CG4960、CG17734和CG11825、Sep2和Sep5。我们研究了这些基因对在多个果蝇物种中的胚胎表达模式。尽管在CG8331和CG17734中存在一定的差异,但亲本基因及其单拷贝同源基因的表达模式在物种间相对保守,无论物种是否具有逆转录拷贝。相反,逆转录同源基因的表达模式则呈现多样化。我们利用20种果蝇的基因组序列研究了编码序列的进化。三个基因对的编码序列在负选择条件下表现出明显的进化优势;然而,亲本基因和逆转录基因在氨基酸序列上有明显的差异。因此,总的来说,逆转录基因的表达模式和编码序列与它们的亲本不同,在某些情况下,逆转录基因的表达模式多样化。
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引用次数: 3
Drosophila melanogaster Selection for Survival after Infection with Bacillus cereus Spores: Evolutionary Genetic and Phenotypic Investigations of Respiration and Movement. 黑腹果蝇在蜡样芽孢杆菌感染后的生存选择:呼吸和运动的进化遗传和表型研究。
Pub Date : 2013-01-01 Epub Date: 2013-03-21 DOI: 10.1155/2013/576452
Junjie Ma, Andrew K Benson, Stephen D Kachman, Deidra J Jacobsen, Lawrence G Harshman

Laboratory populations of D. melanogaster have been subjected to selection for survival after live spores of B. cereus were introduced as a pathogenic agent. The present study was designed to investigate correlated traits: respiration as a metabolic trait and movement as a behavioral trait. An underlying hypothesis was that the evolution of increased survival after B. cereus infection exerts a metabolic cost associated with elevated immunity and this would be detected by increased respiration rates. There was support for this hypothesis in the male response to selection, but not for selected-line females. Two phenotypic effects were also observed in the study. Females especially showed a marked increase in respiration after mating compared to the other assay stages regardless of whether respiration was measured per fly or adjusted by lean mass or dry weight. Given that mating stimulates egg production, it is feasible that elevated metabolism was needed to provision oocytes with yolk. Females also moved less than males, perhaps due to behaviors related to oviposition whereas elevated male activity might be due to behaviors associated with seeking females and courtship. Relatively low movement of females indicated that their elevated respiration after mating was not due to a change in locomotion.

在将蜡样芽孢杆菌的活孢子作为致病菌引入后,实验室种群的黑腹裂腹菌经受了生存选择。本研究旨在研究相关特征:呼吸作为一种代谢特征和运动作为一种行为特征。一个潜在的假设是,蜡样芽孢杆菌感染后存活率增加的进化会产生与免疫升高相关的代谢成本,这将通过呼吸速率的增加来检测。这一假设在雄性对选择的反应中得到了支持,但在被选择的雌性中却没有得到支持。在研究中还观察到两种表型效应。与其他试验阶段相比,雌性在交配后的呼吸明显增加,无论呼吸是按每只苍蝇测量还是按瘦体重或干体重调整。考虑到交配刺激卵子产生,可能需要提高代谢来为卵母细胞提供蛋黄。雌性的活动也比雄性少,可能是由于与产卵有关的行为,而雄性活动的增加可能是由于与寻找雌性和求爱有关的行为。雌性相对较低的运动表明它们交配后呼吸的增加不是由于运动的改变。
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引用次数: 6
Indian craniometric variability and affinities. 印度人头颅测量的变异性和亲缘性。
Pub Date : 2013-01-01 Epub Date: 2013-12-24 DOI: 10.1155/2013/836738
Pathmanathan Raghavan, David Bulbeck, Gayathiri Pathmanathan, Suresh Kanta Rathee

Recently published craniometric and genetic studies indicate a predominantly indigenous ancestry of Indian populations. We address this issue with a fuller coverage of Indian craniometrics than any done before. We analyse metrical variability within Indian series, Indians' sexual dimorphism, differences between northern and southern Indians, index-based differences of Indian males from other series, and Indians' multivariate affinities. The relationship between a variable's magnitude and its variability is log-linear. This relationship is strengthened by excluding cranial fractions and series with a sample size less than 30. Male crania are typically larger than female crania, but there are also shape differences. Northern Indians differ from southern Indians in various features including narrower orbits and less pronounced medial protrusion of the orbits. Indians resemble Veddas in having small crania and similar cranial shape. Indians' wider geographic affinities lie with "Caucasoid" populations to the northwest, particularly affecting northern Indians. The latter finding is confirmed from shape-based Mahalanobis-D distances calculated for the best sampled male and female series. Demonstration of a distinctive South Asian craniometric profile and the intermediate status of northern Indians between southern Indians and populations northwest of India confirm the predominantly indigenous ancestry of northern and especially southern Indians.

最近发表的头颅测量学和遗传学研究表明,印第安人的祖先主要是土著人。针对这一问题,我们对印度人头颅测量学进行了比以往更全面的研究。我们分析了印度系列中的度量差异、印度人的性二态性、印度北部和南部之间的差异、印度男性与其他系列中基于指数的差异以及印度人的多元亲缘关系。变量的大小与其变异性之间是对数线性关系。排除颅骨部分和样本量少于 30 个的系列后,这种关系得到加强。男性颅骨通常比女性颅骨大,但也存在形状差异。北部印第安人与南部印第安人在各种特征上存在差异,包括眼眶较窄,眼眶内侧突出不明显。印度人与维达人相似,颅骨较小,颅骨形状相似。印度人与西北部的 "高加索人 "有更广泛的地理亲缘关系,尤其是北方印度人。后一个发现从基于形状的 Mahalanobis-D 距离计算得出的最佳男性和女性样本系列中得到了证实。南亚独特的颅骨测量特征和印度北部人介于印度南部人和印度西北部人之间的地位证实了印度北部人,尤其是印度南部人的祖先主要是土著人。
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引用次数: 0
Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles. 对来自 HapMap 项目的更大 SNP 数据集的分析证实,现代人的 ABO 血型基因 A 等位基因是 B 和 O 等位基因重组的后代。
Pub Date : 2013-01-01 Epub Date: 2013-10-29 DOI: 10.1155/2013/406209
Masaya Itou, Mitsuharu Sato, Takashi Kitano

The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6. Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6. However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles. In the previous study, a restricted dataset from only two populations was used. In this study, therefore, we used a large single nucleotide polymorphism (SNP) dataset from the HapMap Project. The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele. Its recombination point was assumed to be located just behind Δ261 in exon 6.

人类 ABO 血型基因由三个主要等位基因(A、B 和 O)组成,它们编码一种糖基转移酶。A 等位基因和 B 等位基因在第 7 号外显子上有两个关键氨基酸的差异,而主要的 O 等位基因在第 6 号外显子上有一个单核苷酸缺失(Δ261)。以往的进化研究表明,A 等位基因是最古老的,B 等位基因从 A 等位基因分化而来,在第 7 号外显子中有两个关键氨基酸的替换,而主要的 O 等位基因从 A 等位基因分化而来,在第 6 号外显子中有 Δ261。然而,最近的一项系统发生网络分析研究表明,人类的 A 等位基因是通过 B 等位基因和 O 等位基因之间的重组产生的。在之前的研究中,我们只使用了两个种群的有限数据集。因此,在本研究中,我们使用了来自 HapMap 项目的大型单核苷酸多态性(SNP)数据集。结果表明,A101-A201-O09单倍群是介于B和O单倍型之间的重组系,包含B等位基因完整的第6外显子和主要O等位基因第7外显子中的两个关键A型位点。其重组点被假定位于外显子 6 中Δ261 的后面。
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引用次数: 0
A Survey of Eyespot Sexual Dimorphism across Nymphalid Butterflies. 雌雄蛱蝶眼斑性别二态性的调查。
Pub Date : 2013-01-01 Epub Date: 2013-12-05 DOI: 10.1155/2013/926702
Christopher K Tokita, Jeffrey C Oliver, Antónia Monteiro

Differences between sexes of the same species are widespread and are variable in nature. While it is often assumed that males are more ornamented than females, in the nymphalid butterfly genus Bicyclus, females have, on average, more eyespot wing color patterns than males. Here we extend these studies by surveying eyespot pattern sexual dimorphism across the Nymphalidae family of butterflies. Eyespot presence or absence was scored from a total of 38 wing compartments for two males and two females of each of 450 nymphalid species belonging to 399 different genera. Differences in eyespot number between sexes of each species were tallied for each wing surface (e.g., dorsal and ventral) of forewings and hindwings. In roughly 44% of the species with eyespots, females had more eyespots than males, in 34%, males had more eyespots than females, and, in the remaining 22% of the species, there was monomorphism in eyespot number. Dorsal and forewing surfaces were less patterned, but proportionally more dimorphic, than ventral and hindwing surfaces, respectively. In addition, wing compartments that frequently displayed eyespots were among the least sexually dimorphic. This survey suggests that dimorphism arises predominantly in "hidden" or "private" surfaces of a butterfly's wing, as previously demonstrated for the genus Bicyclus.

同一物种的两性差异是普遍存在的,并且在自然界中是可变的。虽然人们通常认为雄性比雌性更有装饰,但在双头蛱蝶属中,雌性的翅膀上平均有比雄性更多的眼点颜色图案。在这里,我们通过调查蛱蝶科蝴蝶的眼斑图案性别二态性来扩展这些研究。对属于399个不同属的450种雌雄雌雄各2种的38个翅室进行了眼斑存在或缺失的评分。统计了各物种在前翅和后翅各翅面(如背侧和腹侧)眼斑数的性别差异。有眼斑的种属中,约44%的种属雌性眼斑多于雄性,34%的种属雄性眼斑多于雌性,其余22%的种属眼斑数量呈单态分布。背翼和前翼表面图案较少,但比例上比腹翼和后翼表面更二形。此外,经常显示眼点的翼室是性别二型性最少的。这项调查表明,二态性主要出现在蝴蝶翅膀的“隐藏”或“私人”表面,正如之前在双环蝶属中所证明的那样。
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引用次数: 11
Conservation/Mutation in the splice sites of cytokine receptor genes of mouse and human. 小鼠和人细胞因子受体基因剪接位点的保守/突变。
Pub Date : 2013-01-01 Epub Date: 2013-12-17 DOI: 10.1155/2013/818954
Rosa Calvello, Antonia Cianciulli, Maria Antonietta Panaro

Conservation/mutation in the intronic initial and terminal hexanucleotides was studied in 26 orthologous cytokine receptor genes of Mouse and Human. Introns began and ended with the canonical dinucleotides GT and AG, respectively. Identical configurations were found in 57% of the 5' hexanucleotides and 28% of the 3' hexanucleotides. The actual conservation percentages of the individual variable nucleotides at each position in the hexanucleotides were determined, and the theoretical rates of conservation of groups of three nucleotides were calculated under the hypothesis of a mutual evolutionary independence of the neighboring nucleotides (random association). Analysis of the actual conservation of groups of variable nucleotides showed that, at 5', GTGAGx was significantly more expressed and GTAAGx was significantly less expressed, as compared to the random association. At 3', TTTxAG and xTGCAG were overexpressed as compared to a random association. Study of Mouse and Human transcript variants involving the splice sites showed that most variants were not inherited from the common ancestor but emerged during the process of speciation. In some variants the silencing of a terminal hexanucleotide determined skipping of the downstream exon; in other variants the constitutive splicing hexanucleotide was replaced by another potential, in-frame, splicing hexanucleotide, leading to alterations of exon lengths.

研究了小鼠和人26个同源细胞因子受体基因的内含子起始和末端己核苷酸的保守/突变。内含子分别以典型二核苷酸GT和AG开始和结束。在57%的5'己核苷酸和28%的3'己核苷酸中发现了相同的构型。确定了六核苷酸中每个位置的单个可变核苷酸的实际守恒率,并在相邻核苷酸相互进化独立(随机关联)的假设下计算了三个核苷酸组的理论守恒率。对可变核苷酸组的实际保守性分析表明,与随机关联相比,在5'处,GTGAGx的表达量显著增加,GTAAGx的表达量显著减少。在3'时,TTTxAG和xTGCAG与随机关联相比过表达。对涉及剪接位点的小鼠和人类转录变异体的研究表明,大多数变异体不是从共同祖先遗传而来,而是在物种形成过程中出现的。在一些变体中,末端六核苷酸的沉默决定了下游外显子的跳跃;在其他变异中,本构剪接己核苷酸被另一个潜在的框架内剪接己核苷酸取代,导致外显子长度的改变。
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引用次数: 6
Sex-biased networks and nodes of sexually antagonistic conflict in Drosophila. 果蝇性别偏见网络和性对抗冲突节点。
Pub Date : 2013-01-01 Epub Date: 2013-01-22 DOI: 10.1155/2013/545392
Matthew E B Hansen, Rob J Kulathinal

Sexual antagonism, or conflict, can occur when males and females harbor opposing reproductive strategies. The large fraction of sex-biased genes in genomes present considerable opportunities for conflict to occur, suggesting that sexual antagonism may potentially be a general phenomenon at the molecular level. Here, we employ a novel strategy to identify potential nodes of sexual conflict in Drosophila melanogaster by coupling male, female, and sex-unbiased networks derived from genome-wide expression data with available genetic and protein interaction data. We find that sex-biased networks comprise a large fraction (~1/3) of the total interaction network with the male network possessing nearly twice the number of nodes (genes) relative to the female network. However, there are far less edges or interaction partners among male relative to female subnetworks as seen in their power law distributions. We further identified 598 sex-unbiased genes that can act as indirect nodes of interlocus sexual conflict as well as 271 direct nodal pairs of potential conflict between male- and female-biased genes. The pervasiveness of such potentially conflicting nodes may explain the rapid evolution of sex-biased as well as non-sex-biased genes via this molecular mechanism of sexual selection even among taxa such as Drosophila that are nominally sexually dimorphic.

当雄性和雌性拥有相反的生殖策略时,就会发生性对抗或冲突。基因组中很大一部分性别偏倚基因为发生冲突提供了相当大的机会,这表明性别拮抗可能是分子水平上的普遍现象。在这里,我们采用了一种新的策略,通过将来自全基因组表达数据的雄性、雌性和性别无偏网络与可用的遗传和蛋白质相互作用数据相结合,来识别黑腹果蝇性别冲突的潜在节点。我们发现,性别偏见网络占总互动网络的很大一部分(约1/3),男性网络拥有的节点(基因)数量几乎是女性网络的两倍。然而,从幂律分布中可以看出,相对于女性子网,男性子网的边缘或互动伙伴要少得多。我们进一步确定了598个性别无偏的基因可以作为基因座间性冲突的间接节点,以及271个男性和女性偏见基因之间潜在冲突的直接节点对。这种潜在冲突节点的普遍存在可以解释性别偏向和非性别偏向基因通过这种性选择的分子机制的快速进化,甚至在像果蝇这样名义上是两性二型的分类群中也是如此。
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引用次数: 6
Erratum to "new insights into ligand-receptor pairing and coevolution of relaxin family peptides and their receptors in teleosts". 对“硬骨鱼松弛素家族肽及其受体的配体-受体配对和共同进化的新见解”的勘误。
Pub Date : 2013-01-01 Epub Date: 2013-04-24 DOI: 10.1155/2013/807326
Sara Good, Sergey Yegorov, Joran Martijn, Jens Franck, Jan Bogerd
Relaxin-like peptides (RLN/INSL) play diverse roles in reproductive and neuroendocrine processes in placental mammals and are functionally associated with two distinct types of receptors (RXFP) for each respective function. The diversification of RLN/INSL and RXFP gene families in vertebrates was predominantly driven by whole genome duplications (2R and 3R). Teleosts preferentially retained duplicates of genes putatively involved in neuroendocrine regulation, harboring a total of 10-11 receptors and 6 ligand genes, while most mammals have equal numbers of ligands and receptors. To date, the ligand-receptor relationships of teleost Rln/Insl peptides and their receptors have largely remained unexplored. Here, we use selection analyses based on sequence data from 5 teleosts and qPCR expression data from zebrafish to explore possible ligand-receptor pairings in teleosts. We find support for the hypothesis that, with the exception of RLN, which has undergone strong positive selection in mammalian lineages, the ligand and receptor genes shared between mammals and teleosts appear to have similar pairings. On the other hand, the teleostspecific receptors show evidence of subfunctionalization. Overall, this study underscores the complexity of RLN/INSL and RXFP ligand-receptor interactions in teleosts and establishes theoretical background for further experimental work in nonmammals.
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引用次数: 8
No experimental evidence for sneaking in a west african cichlid fish with extremely long sperm. 没有实验证据证明能偷偷带进一种有着超长精子的西非鲷鱼。
Pub Date : 2013-01-01 Epub Date: 2013-12-10 DOI: 10.1155/2013/714304
Kathrin Langen, Timo Thünken, Theo C M Bakker

Alternative reproductive tactics are widespread in fishes, increasing the potential for sperm competition. Sperm competition has enormous impact on both variation in sperm numbers and sperm size. In cichlids, the sperm competition risk is very divergent and longer sperm are usually interpreted as adaptation to sperm competition. Here we examined whether sneaking tactics exist in Pelvicachromis taeniatus, a socially monogamous cichlid with biparental brood care from West Africa. The small testis indicates low gonadal investment which is typical for genetically monogamous species. In contrast, sperm length with up to 85  μ m is extraordinarily long. We examined the reproductive behaviour of ten groups with a male-biased sex ratio under semi-natural conditions via continuous video recording. We recorded spawning site preferences and correlates of reproductive success and conducted paternity tests using microsatellites. Safe breeding sites that could be successfully defended were preferred. All offspring could be assigned to their parents and no multiple paternities were detected. Body size of spawning pairs predicted their spawning probability and offspring hatching rate suggesting benefits from mating with large individuals. Our study suggests low risk of sperm competition under the given conditions in P. taeniatus and thus first evidence for genetic monogamy in a substrate breeding cichlid.

可选择的生殖策略在鱼类中广泛存在,增加了精子竞争的可能性。精子竞争对精子数量和大小的变化都有巨大的影响。在慈鲷中,精子竞争的风险是非常分散的,较长的精子通常被解释为对精子竞争的适应。在这里,我们研究了潜入策略是否存在于Pelvicachromis taeniatus中,这是一种来自西非的社会一夫一妻制的双父母育儿鱼。小睾丸表明低性腺投入,这是典型的基因一夫一妻制物种。相比之下,精子的长度高达85 μ m,这是非常长的。我们通过连续录像研究了半自然条件下10个性别比例为男性偏倚的群体的生殖行为。我们记录了产卵地点的偏好和繁殖成功的相关性,并使用微卫星进行了亲子鉴定。可以成功防御的安全繁殖地点是首选。所有子代均可归母,未发现多父性。产卵对的体型预测了它们的产卵概率和后代的孵化率,这表明与体型较大的个体交配有好处。我们的研究表明,在特定条件下,带绦虫的精子竞争风险较低,从而首次证明了在一种底物繁殖的鱼中存在遗传一夫一妻制。
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引用次数: 11
RNA-Mediated Gene Duplication and Retroposons: Retrogenes, LINEs, SINEs, and Sequence Specificity. rna介导的基因复制和逆转录子:逆转录基因、细胞系、正弦和序列特异性。
Pub Date : 2013-01-01 Epub Date: 2013-08-01 DOI: 10.1155/2013/424726
Kazuhiko Ohshima

A substantial number of "retrogenes" that are derived from the mRNA of various intron-containing genes have been reported. A class of mammalian retroposons, long interspersed element-1 (LINE1, L1), has been shown to be involved in the reverse transcription of retrogenes (or processed pseudogenes) and non-autonomous short interspersed elements (SINEs). The 3'-end sequences of various SINEs originated from a corresponding LINE. As the 3'-untranslated regions of several LINEs are essential for retroposition, these LINEs presumably require "stringent" recognition of the 3'-end sequence of the RNA template. However, the 3'-ends of mammalian L1s do not exhibit any similarity to SINEs, except for the presence of 3'-poly(A) repeats. Since the 3'-poly(A) repeats of L1 and Alu SINE are critical for their retroposition, L1 probably recognizes the poly(A) repeats, thereby mobilizing not only Alu SINE but also cytosolic mRNA. Many flowering plants only harbor L1-clade LINEs and a significant number of SINEs with poly(A) repeats, but no homology to the LINEs. Moreover, processed pseudogenes have also been found in flowering plants. I propose that the ancestral L1-clade LINE in the common ancestor of green plants may have recognized a specific RNA template, with stringent recognition then becoming relaxed during the course of plant evolution.

大量的“逆转录基因”来源于各种含内含子基因的mRNA已被报道。一类哺乳动物反转录子,长穿插元件-1 (LINE1, L1),已被证明参与逆转录基因(或加工假基因)和非自主短穿插元件(SINEs)的反转录。各种正弦序列的3′端序列来源于相应的LINE。由于一些line的3'非翻译区对于逆转录是必不可少的,这些line可能需要“严格”识别RNA模板的3'端序列。然而,哺乳动物L1s的3'端除了存在3'-poly(A)重复序列外,与sin没有任何相似之处。由于L1和Alu SINE的3'-poly(A)重复序列对它们的逆转录至关重要,L1可能识别了poly(A)重复序列,从而不仅动员了Alu SINE,还动员了胞质mRNA。许多开花植物只含有l1枝系和大量具有poly(a)重复序列的sin,但与这些系没有同源性。此外,在开花植物中也发现了加工过的假基因。笔者提出,绿色植物共同祖先的L1-clade LINE可能识别了一个特定的RNA模板,在植物进化过程中,严格的识别变得宽松。
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引用次数: 24
期刊
International journal of evolutionary biology
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