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Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.
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Molecular evolution of FOXP2, a gene
involved in speech and language
Wolfgang Enard*, Molly Przeworski*, Simon E. Fisher, Cecilia S. L. Lai,
Victor Wiebe*, Takashi Kitano*, Anthony P. Monaco & Svante Pa
* Max Planck Institute for Evolutionary Anthropology, Inselstrasse 22,
D-04103 Leipzig, Germany
Wellcome Trust Centre for Human Genetics, University of Oxford,
Roosevelt Drive, Oxford OX3 7BN, UK
Language is a uniquely human trait likely to have been a
prerequisite for the development of human culture. The ability
to develop articulate speech relies on capabilities, such as fine
control of the larynx and mouth
, that are absent in chimpanzees
and other great apes. FOXP2 is the first gene relevant to the
human ability to develop language
. A point mutation in FOXP2
co-segregates with a disorder in a family in which half of the
members have severe articulation difficulties accompanied by
linguistic and grammatical impairment
. This gene is disrupted
by translocation in an unrelated individual who has a similar
disorder. Thus, two functional copies of FOXP2 seem to be
required for acquisition of normal spoken language. We
sequenced the complementary DNAs that encode the FOXP2
protein in the chimpanzee, gorilla, orang-utan, rhesus macaque
and mouse, and compared them with the human cDNA. We also
investigated intraspecific variation of the human FOXP2 gene.
Here we show that human FOXP2 contains changes in amino-
acid coding and a pattern of nucleotide polymorphism, which
strongly suggest that this gene has been the target of selection
during recent human evolution.
FOXP2 (forkhead box P2) is located on human chromosome
7q31, and its major splice form encodes a protein of 715 amino acids
belonging to the forkhead class of transcription factors
. It contains
a glutamine-rich region consisting of two adjacent polyglutamine
tracts, encoded by mixtures of CAG and CAA repeats. Such repeats
are known to have elevated mutation rates. In the case of FOXP2,
the lengths of the polyglutamine stretches differed for all taxa
studied. Variation in the second polyglutamine tract has been
observed in a small family affected with speech and language
impairment, but this did not co-segregate with disorder, suggesting
that minor changes in length may not significantly alter the function
of the protein
. If the polyglutamine stretches are disregarded, the
human FOXP2 protein differs at only three amino-acid positions
from its orthologue in the mouse (Fig. 1). When compared with a
collection of 1,880 human–rodent gene pairs
, FOXP2 is among the
5% most-conserved proteins. The chimpanzee, gorilla and rhesus
macaque FOXP2 proteins are all identical to each other and carry
only one difference from the mouse and two differences from the
human protein, whereas the orang-utan carries two differences
from the mouse and three from humans (Fig. 1). Thus, although
the FOXP2 protein is highly conserved, two of the three amino-acid
differences between humans and mice occurred on the human
lineage after the separation from the common ancestor with the
chimpanzee. These two amino-acid differences are both found in
exon 7 of the FOXP2 gene and are a threonine-to-asparagine and an
asparagine-to-serine change at positions 303 and 325, respectively.
Figure 2 shows the amino-acid changes, as well as the silent changes,
mapped to a phylogeny of the relevant primates.
We compared the FOXP2 protein structures predicted by a
variety of methods
for humans, chimpanzees, orang-utans and
mice. Whereas the chimpanzee and mouse structures were essen-
tially identical and the orang-utan showed only a minor change in
secondary structure, the human-specific change at position 325
creates a potential target site for phosphorylation by protein kinase
C together with a minor change in predicted secondary structure.
Several studies have shown that phosphorylation of forkhead
transcription factors can be an important mechanism mediating
transcriptional regulation
. Thus, although the FOXP2 protein is
extremely conserved among mammals, it acquired two amino-acid
changes on the human lineage, at least one of which may have
functional consequences. This is an intriguing finding, because
FOXP2 is the first gene known to be involved in the development
of speech and language.
To investigate whether the amino acids encoded in exon 7 are
polymorphic in humans, we sequenced this exon from 44 human
chromosomes originating from all major continents. In no case was
any amino-acid polymorphism found. Further, a study that ana-
lysed the complete coding region of FOXP2 in 91 unrelated
individuals of mainly European descent found no amino-acid
replacements except for one case of an insertion of two glutamine
codons in the second polyglutamine stretch
. Because the two
amino-acid variants specific to humans occur in 226 human
chromosomes, this suggests that they are fixed among humans.
The evolutionary lineages leading to humans and mice diverged
about 70 million years (Myr) ago
. Thus, during the roughly
130 Myr of evolution that separate the common ancestor of humans
and chimpanzees from the mouse, a single amino-acid change
occurred in the FOXP2 protein. By contrast, since the human and
chimpanzee lineages diverged about 4.6–6.2 Myr ago
, two fixed
amino-acid changes occurred on the human lineage whereas none
occurred on the chimpanzee and the other primate lineages, except
for one change on the orang-utan lineage. We used a likelihood
to test for constancy of the ratio of amino-acid replacements
over nucleotide changes that do not cause amino-acid changes
among the evolutionary lineages in Fig. 2. Whereas a significant
increase in this ratio was observed on the human lineage
(P , 0.001), no such increase was seen on any other lineage. This
finding is consistent with the action of positive selection on amino-
acid changes in the human lineage. However, the alternative
hypothesis of a relaxation of constraints on FOXP2 specific to the
human lineage cannot be excluded on the basis of these data alone.
If these two changes in amino-acid encoding (or some other
feature of the human FOXP2 gene) were positively selected recently
during human evolution, traces of a selective sweep should be
detectable in the pattern of variation found among humans
investigate this possibility, we sequenced a segment of 14,063 base
pairs (bp) covering introns 4, 5 and 6 of the FOXP2 gene in seven
individuals from Africa, four from Europe, one from South Amer-
ica, five from mainland Asia and three from Australia and Papua
This advance online publication (AOP) Nature paper should be cited as
Author(s) Nature advance online publication, 14 August 2002
(doi:10.1038/nature01025)”. Once the print version (identical to the AOP)
is published, the citation becomes Author(s) Nature volume, page (year);
advance online publication, 14 August 2002 (doi:10.1038/nature01025)”.
Table 1 Variation at the FOXP2 locus in humans
No. of chromosomes sequenced 40
Length covered (double stranded, all individuals) 14,063 bp
Divergence from the chimp sequence* 0.87%
No. of variable positions 47
Singletons (no. of variable sites occurring
at frequency 1 and 39)
(nucleotide diversity based on the no.
of polymorphic sites)
(mean nucleotide diversity) 0.03%
(nucleotide diversity with more weight given
to alleles at high frequency
D (P , 0.01)† 22.20
H (P , 0.05)‡ 212.24
*The corresponding value for the orang-utan is 2.5.
A negative D value indicates a relative excess of low-frequency alleles
A negative H value indicates a relative excess of high-frequency derived alleles
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New Guinea. In addition, we sequenced the same segment in a
chimpanzee from central Africa, a chimpanzee from western Africa
and an orang-utan (Table 1). One hallmark of a recent selective
sweep is that more low-frequency alleles should be observed than
expected under a neutral model of a random-mating population of
constant size. To test this prediction, we calculated Tajima’s D
. The value is 22.20 for our sample, indicating a sharp
excess of rare alleles. Under the standard neutral model outlined
above, the probability of such an excess by chance is 0.002.
Population growth can also lead to negative D values throughout
the genome. However, the value of D at FOXP2 is unusually low
compared with other loci. For example, among 313 human genes
sequenced in a sample of 164 chromosomes, only one has a more
negative value (22.25). A second prediction for a selective sweep at
a recombining locus is that more derived (that is, non-ancestral)
alleles at high frequency are expected than under the standard
neutral model, a feature reflected in a negative H value
. To estimate
H, we inferred the ancestral states of variable positions seen among
the humans by using the chimpanzee and orang-utan DNA
sequences. The H value of 212.24 deviates significantly from the
neutral expectation of zero (P ¼ 0.042) and would be even less likely
by chance under a model with population growth
. The strongly
negative D and H reflect an extreme skew in the frequency spectrum
of allelic variants at FOXP2 towards rare and high-frequency alleles.
Because we considered a worldwide sample of humans, population
structure might contribute to the negative D value. However, this
type of sampling scheme is highly unlikely to produce a significantly
negative H value. In contrast to demographic explanations, a
selective sweep affecting the FOXP2 gene can account for both
aspects of the frequency spectrum. We do not observe a reduced
diversity at human FOXP2 relative to its divergence from the
chimpanzee, as expected under a simple selective-sweep model.
However, the magnitude of the reduction in variability expected
after a selective sweep depends crucially on the rate of recombina-
tion. Estimates of recombination between intronic polymorphisms
taken from a study of FOXP2 (ref. 4) suggest that this region of the
gene experiences rates of genetic exchange roughly five times the
genome-wide average. If we assume that a selective sweep at a linked
site does account for the patterns of variability recovered at FOXP2,
it is noteworthy that the next gene is located 286 kilobases (kb) away
from the sequenced segment. A selective sweep is not expected to
lead to an excess of high-frequency derived alleles at sites that are
286 kb distant from the target of selection
. Thus, the best
candidates for the selected sites are the two amino-acid substi-
tutions specific to humans in exon 7.
Individuals with disruption of FOXP2 have multiple difficulties
with both expressive and receptive aspects of language and gram-
mar, and the nature of the core deficit remains a matter of debate
. Nevertheless, a predominant feature of the phenotype of affected
individuals is an impairment of selection and sequencing of fine
orofacial movements
, an ability that is typical of humans and not
present in the great apes. We speculate that some human-specific
Figure 1 Alignment of the amino-acid sequences inferred from the FOXP2 cDNA sequences. The polyglutamine stretches and the forkhead domain are shaded. Sites that differ from the
human sequence are boxed.
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feature of FOXP2, perhaps one or both of the amino-acid substi-
tutions in exon 7, affect a person’s ability to control orofacial
movements and thus to develop proficient spoken language. If
this speculation is true, then the time when such a FOXP2 variant
became fixed in the human population may be pertinent with
regard to the evolution of human language. We estimated this
time point using a likelihood approach. Under a model of a
randomly mating population of constant size, the most likely date
since the fixation of the beneficial allele is 0, with approximate 95%
confidence intervals of 0 and 120,000 years. Our point-estimate of 0
reflects the fact that high-frequency alleles rapidly drift to fixation,
so an excess is most likely immediately after a selective sweep.
However, if population growth soon succeeds the fixation of the
advantageous allele, the rate of drift will be decreased and high-
frequency alleles may persist longer in the population. Thus, the
inclusion of population growth may push this time estimate back by
at most the time since the onset of human population growth, some
10,000–100,000 years ago
. In any case, our method suggests that
the fixation occurred during the last 200,000 years of human history,
that is, concomitant with or subsequent to the emergence of
anatomically modern humans
. This is compatible with a model
in which the expansion of modern humans was driven by the
appearance of a more-proficient spoken language
. However, to
establish whether FOXP2 is indeed involved in basic aspects of
human culture, the normal functions of both the human and the
chimpanzee FOXP2 proteins need to be clarified. A
Isolation of cDNA sequences
For all analysed species, we amplified by polymerase chain reaction (PCR) and sequenced
overlapping fragments of the FOXP2 coding region from first-strand cDNA. Details are
available in Supplementary Information.
Genomic sequencing
Full details are available in Supplementary Information. In brief, we designed primers
from a human bacterial artificial chromosome (BAC) sequence (accession number
AC020606), PCR-amplified fragments of 6–14 kb, re-amplified 2.2-kb fragments from
these products that were then sequenced with internal primers. For each individual, each
nucleotide position was read from both strands. Sequence traces were manually analysed
for polymorphic positions using the program Seqman of the DNAStar package (see also
Supplementary Information).
Data analysis
We aligned sequences with the help of the program ClustalW
and calculated most
statistics with DnaSP 3.51 (ref. 24). P values for D and H were obtained by coalescent
simulations implemented for a fixed number of segregating sites, and assuming no
recombination. If we take into account recombination within the 14 kb, the P values
decrease (for example, P , 0.01 for H and P , 10
for D if one assumes an effective
population size of 10
and a recombination rate of 5 centimorgans (cM) per Mb). Because
the chimpanzee and orang-utan do not differ at any polymorphic position compared with
humans, we assumed no back mutations when estimating the P value for H. The likelihood
ratio tests for non-silent and silent substitutions were performed using the PAML
as described
(see Supplementary Information). We predicted the structure of
human, chimpanzee, mouse and orang-utan FOXP2 using the program PredictProtein
, which includes
prediction of sites of protein kinase C phosphorylation by PROSITE
. The orang-utan-
specific alanine-to-valine change at position 6 results in the prediction of a
-sheet at
positions 8–10 in the orang-utan, and the human-specific change at position 325 results in
the prediction of a
-sheet in positions 323–326. However, these are not reliable and may
not be relevant. We used the University of California at Santa Cruz Human Genome
Project Working Draft, 22 December 2001 assembly (, to
estimate distances to the closest genes. The middle of the sequenced region is 220 kb away
from the known 5
end and 54 kb away from the 3
end of FOXP2, respectively. The next
gene (supported by the cDNA sequence with GenBank accession number AF054589) is
located 286 kb distant in the 3
Modelling the selective sweep
A summary likelihood method (compare with ref. 27) was used to estimate the time, T,
since the fixation of the beneficial allele in the population. The polymorphism data was
summarized as v
(ref. 17) and p (ref. 28). We then ran coalescent simulations of a
selective sweep with recombination as in ref. 13. These simulations assume that we have
polymorphism data for a neutral locus, at some distance from a selected site, and that
selection acted on a newly arising variant. The likelihood of T is estimated as the
proportion of n simulated data sets, where jv
2 v
j , 1 and jp
2 p
j , 1
(here, n ¼ 3 £ 10
and 1 ¼ 0.2). The likelihood of T was evaluated over a grid of points
spaced every 1,000 generations. We then chose the T value that maximizes the probability
of obtaining the observed (v
, p) values. In addition to T, several additional parameters
are in this selective sweep model: the distance to the selected site, the effective population
size of humans, the strength of selection, the mutation rate and the recombination rate. It
is not computationally feasible to co-estimate all of these parameters, and we proceeded by
assuming that the values of most nuisance parameters are known exactly. We hypothesized
that one of the substitutions on the human lineage was the selected site and used a point
estimate of the population mutation rate (assuming 5 Myr to the common ancestor of a
human and chimpanzee DNA sequence). We modelled uncertainty in the recombination
rate per megabase by choosing the rate for each simulation from a
distribution with
parameters (5, 1); the mean was set to the recombination rate estimated from two
polymorphic markers in introns 2 and 16, respectively, of the FOXP2 gene
. The effective
population size was taken to be 10
, on the basis of estimates for other loci
. We tried three
different values for the selection coefficient: s ¼ 5%, 1% and 0.5%. For these parameters,
an s of 1% resulted in the highest likelihoods, so we reported the results for s ¼ 1%. If we
use the chi-squared approximation with one degree of freedom for the log-likelihood ratio
statistic 2lnðLikð
TÞ=LikðTÞÞ, we obtain an approximate 95% confidence interval for T of
[0, 4,000 generations]. However, this approximation may not be appropriate in this
context. Thus, we also ran 100 simulations to examine the distribution of T
when the true
T is equal to our maximum likelihood estimate of T ¼ 0 (here, n ¼ 5 £ 10
and 1 ¼ 0.2).
These simulations suggested an approximate 95% confidence interval of [0, 6,000
generations]. We assumed a generation time of 20 years for converting T into years.
Received 11 November 2001; accepted 29 July 2002; doi:10.1038/nature01025.
Published online 14 August 2002.
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Supplementary Information accompanies the paper on Natures website
We thank F. Heissig for help with the cDNA sequencing; A. von Haeseler, G. Weiss and
S. Zo
llner for help with the data analysis on an earlier version of the manuscript;
J. Wickings at the Centre International de Recherches Medicales for DNA samples of
central chimpanzees; and the Bundesminsterium fu
r Bildung und Forschung, the Max
Planck Society and the Wellcome Trust for financial support. M.P. was supported by a
National Science Foundation postdoctoral research fellowship in bioinformatics. S.E.F. is a
Royal Society Research Fellow and A.P.M. is a Wellcome Trust Principal Research Fellow.
Competing interests statement
The authors declare that they have no competing financial interests.
Correspondence and requests for materials should be addressed to S.P.
(e-mail: FOXP2 cDNA sequences of the mouse, rhesus macaque,
orang-utan, gorilla, chimpanzee and human have GenBank accession numbers AY079003,
AF512950, AF512949, AF512948, AF512947 and AF337817, respectively. Accession numbers for
genomic sequences for the twenty humans, two chimpanzees and one orang-utan are
AF515031–AF515050, AF515051–AF515052 and AF515053, respectively.
letters to nature advance online publication
NATURE | 14 AUGUST 2002 | doi:10.1038/nature01025 |
© 2002

Supplementary resources (28)

... Тогда удалось прийти к заключению, что в этом «виноват» некий доминантно-наследуемый ген . Спустя полтора десятка лет этот ген был установлен и выяснилось, что он относится к семейству транскрипционных факторов forkhead helix (FOX) и получил название FOXP2 [Lai et al., 2002]. У больных представителей KE family в 14 экзоне данного гена была найдена критичая мутация p.R553H (замена аргинина на гистидин). ...
... Нарушение речи у членов семьи проявлялось и в гетерозиготном 18 состоянии, что свидетельствует о так называемой гаплонедостаточности и говорит о необходимости наличия двух полноценных копий этого гена, чтобы не происходило проявления данной патологии. Секвенирование гена FOXP2 позволило установить его структуру [Enard et al., 2002], приведенную на рис. 3. Примерно в то же время были выявлены еще несколько человек с нарушениями речи из других семей, у которых также имелись различные нарушения гена FOXP2, отличающиеся от мутации p.R553H . ...
... Было обнаружено, что белок FoxP2 очень консервативен и отличается у разных организмов преимущественно единичными заменами аминокислот. Так, белок FOXP2 человека отличается от аналогичного у ближайшего ныне живущего нашего родственникашимпанзе, всего двумя аминокислотами в 7 экзоне в положениях 303 и 325p.N303T и p.S325N, а также отсутствием одного остатка глутамина в Poly Q домене [Enard et al., 2002]. Прочие высшие приматы имеют те же замены аминокислот, что и у шимпанзе, при этом лишь у орангутанга обнаружена дополнительная замена p.A6V [Zhang et al., 2002]. ...
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The reasons for the mysterious disappearance of Neanderthals about 40 thousand years ago, which occurred shortly after the appearance on their territory of people of the modern anatomical type - Cro-Magnons, occupy the minds of many generations of paleoanthropologists. The extinction of the Neanderthals lasted for 2-5 thousand years, depending on the habitat, which can be considered a fairly fast process, since before that they successfully lived in Western Europe for about 300 thousand years in the absence of any competition from other hominins. Several factors contributed to the extinction of the Neanderthals. The main one was demographic, which led to a sharp decline in the population, the cause of which was the superiority of the Cro-Magnons in intelligence and, possibly, their possession of articulate speech, which contributed to better organization in obtaining food. In addition, the Neanderthals' massive physique required more food, with Neanderthals and Cro-Magnons competing for the same resources and territories. It can be assumed that after the appearance of the Cro-Magnons, the Neanderthals lived from hand to mouth, which reduced their birth rate and increased mortality, and at a younger age compared to the Cro-Magnons. Climatic changes (Ice Age) affected, most likely, to a small extent, since the Neanderthals died out in the southern territories of their residence, where a sharp cooling did not occur. As one of the possible reasons for the extinction of the Neanderthals, one cannot exclude infections brought by the Cro-Magnons from Africa, to which the first were unstable. The article also discusses the social aspect: the predecessors of the Neanderthals were probably the first wave of people from Africa who came to the territory of present-day Western Europe about 600 thousand years ago; the second wave can be considered the Cro-Magnons, who followed the same path from Africa through the Near and Middle East. In the coming third millennium of the new era, Western Europe is already facing the third wave of migrants - Afrasians, following almost the same path. It can be assumed that due to the better birth rate among the latter and a number of other circumstances, in a few generations the autochthonous population of Europe will be replaced by newcomers, including through assimilation.
... 1955), biólogo y genetista sueco hijo del bioquímico Sune Bergström -Premio Nobel de Fisiología o Medicina en 1982 por su trabajo con Prostaglandinas-y de Karin Pääbo, química estonia. Las investigaciones moleculares del galardonado han permitido postular desde un gen asociado a la capacidad de hablar en los humanos, el gen FoxP2 (Enard et al, 2002), hasta el grado de parentesco de ramas divergentes en los homínidos al comparar genomas considerados "completos" de neandertales (Green et al, 2010) y denisovanos (Meyer et al, 2012) con el genoma del Homo sapiens que representa hoy, de manera preliminar, a toda la humanidad (Figura 1). ...
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El comité del Premio Nobel anunció el pasado lunes 3 de octubre que el científico ganador de este galardón en el presente año de 2022 fue Svante Päabo (n. 1955), biólogo y genetista sueco hijo del bioquímico Sune Bergström —Premio Nobel de Fisiología o Medicina en 1982 por su trabajo con Prostaglandinas— y de Karin Pääbo, química estonia. Las investigaciones moleculares del galardonado han permitido postular desde un gen asociado a la capacidad de hablar en los humanos, el gen FoxP2 (Enard et al, 2002), hasta el grado de parentesco de ramas divergentes en los homínidos al comparar genomas considerados “completos” de neandertales (Green et al, 2010) y denisovanos (Meyer et al, 2012) con el genoma del Homo sapiens que representa hoy, de manera preliminar, a toda la humanidad.
... In this case, these earlier hominins may not have possessed the capacity to hear a holistic utterance as anything other than an undifferentiated sonic continuity. Implicated in the neurobiology of the perception and production of speech in modern humans, the Forkhead box P2 (FOXP2) gene may have played a role in musilinguistic stream-segmentation (Enard et al., 2002;S. B. Carroll, 2003). ...
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Music in Evolution and Evolution in Music by Steven Jan is a comprehensive account of the relationships between evolutionary theory and music. Examining the ‘evolutionary algorithm’ that drives biological and musical-cultural evolution, the book provides a distinctive commentary on how musicality and music can shed light on our understanding of Darwin’s famous theory, and vice-versa. Comprised of seven chapters, with several musical examples, figures and definitions of terms, this original and accessible book is a valuable resource for anyone interested in the relationships between music and evolutionary thought. Jan guides the reader through key evolutionary ideas and the development of human musicality, before exploring cultural evolution, evolutionary ideas in musical scholarship, animal vocalisations, music generated through technology, and the nature of consciousness as an evolutionary phenomenon. A unique examination of how evolutionary thought intersects with music, Music in Evolution and Evolution in Music is essential to our understanding of how and why music arose in our species and why it is such a significant presence in our lives.
... The problem may be caused by a defect in the formation of the speech centers of the brain while a fetus is still in the uterus. Given that this was the first gene shown to have any role in language development, the evolutionary geneticists tried to sequence it in a number of mammal species (Enard et al. 2002). In the millions of years since mice and apes had a common ancestor, there has been only one amino acid change. ...
... One obvious difference between modern human and nonhuman cognition is language. The origin of language is one of the great puzzles of evolutionary science [116,117], with many proposing that fully syntactical language emerged exclusively in Homo sapiens [118][119][120]. Whenever and however it first evolved, one likely pressure for the increasing sophistication of language was the need to communicate about actual and possible events distant from the speaker in space and time [121,122]. ...
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Humans possess the remarkable capacity to imagine possible worlds and to demarcate possibilities and impossibilities in reasoning. We can think about what might happen in the future and consider what the present would look like had the past turned out differently. We reason about cause and effect, weigh up alternative courses of action and regret our mistakes. In this theme issue, leading experts from across the life sciences provide ground-breaking insights into the proximate questions of how thinking about possibilities works and develops, and the ultimate questions of its adaptive functions and evolutionary history. Together, the contributions delineate neurophysiological, cognitive and social mechanisms involved in mentally simulating possible states of reality; and point to conceptual changes in the understanding of singular and multiple possibilities during human development. The contributions also demonstrate how thinking about possibilities can augment learning, decision-making and judgement, and highlight aspects of the capacity that appear to be shared with non-human animals and aspects that may be uniquely human. Throughout the issue, it becomes clear that many developmental milestones achieved during childhood, and many of the most significant evolutionary and cultural triumphs of the human species, can only be understood with reference to increasingly complex reasoning about possibilities. This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
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2022年诺贝尔生理学或医学奖的获奖者是著名生物学家、进化遗传学家斯万特•帕博(Svante Pääbo)。他通过研究已灭绝古人类的基因组,对探索人类演化作出了巨大贡献。文章介绍帕博及其团队关于尼安德特人和丹尼索瓦人的研究和发现,以及古DNA领域近30年的发展和最新成果。
Situated at the intersection of natural science and philosophy, Our Genes explores historical practices, investigates current trends, and imagines future work in genetic research to answer persistent, political questions about human diversity. Readers are guided through fascinating thought experiments, complex measures and metrics, fundamental evolutionary patterns, and in-depth treatment of exciting case studies. The work culminates in a philosophical rationale, based on scientific evidence, for a moderate position about the explanatory power of genes that is often left unarticulated. Simply put, human evolutionary genomics - our genes - can tell us much about who we are as individuals and as collectives. However, while they convey scientific certainty in the popular imagination, genes cannot answer some of our most important questions. Alternating between an up-close and a zoomed-out focus on genes and genomes, individuals and collectives, species and populations, Our Genes argues that the answers we seek point to rich, necessary work ahead.
The way language as a human faculty has evolved is a question that preoccupies researchers from a wide spread of disciplines. In this book, a team of writers has been brought together to examine the evolution of language from a variety of such standpoints, including language's genetic basis, the anthropological context of its appearance, its formal structure, its relation to systems of cognition and thought, as well as its possible evolutionary antecedents. The book includes Hauser, Chomsky, and Fitch's seminal and provocative essay on the subject, 'The Faculty of Language,' and charts the progress of research in this active and highly controversial field since its publication in 2002. This timely volume will be welcomed by researchers and students in a number of disciplines, including linguistics, evolutionary biology, psychology, and cognitive science.
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Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity(1). Although studies of twins consistently indicate that a significant genetic component is involved(1-3), most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait(4). Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5). We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval(6). Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.
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The PROSITE database consists of biologically significant patterns and profiles formulated in such a way that with appropriate computational tools it can help to determine to which known family of protein (if any) a new sequence belongs, or which known domain(s) it contains.
Positive selection can be inferred from its effect on linked neutral variation. In the restrictive case when there is no recombination, all linked variation is removed. If recombination is present but rare, both deterministic and stochastic models of positive selection show that linked variation hitchhikes to either low or high frequencies. While the frequency distribution of variation can be influenced by a number of evolutionary processes, an excess of derived variants at high frequency is a unique pattern produced by hitchhiking (derived refers to the nonancestral state as determined from an outgroup). We adopt a statistic, H, to measure an excess of high compared to intermediate frequency variants. Only a few high-frequency variants are needed to detect hitchhiking since not many are expected under neutrality. This is of particular utility in regions of low recombination where there is not much variation and in regions of normal or high recombination, where the hitchhiking effect can be limited to a small (<1 kb) region. Application of the H test to published surveys of Drosophila variation reveals an excess of high frequency variants that are likely to have been influenced by positive selection.
The functions of many open reading frames (ORFs) identified in genome-sequencing projects are unknown. New, whole-genome approaches are required to systematically determine their function. A total of 6925 Saccharomyces cerevisiae strains were constructed, by a high-throughput strategy, each with a precise deletion of one of 2026 ORFs (more than one-third of the ORFs in the genome). Of the deleted ORFs, 17 percent were essential for viability in rich medium. The phenotypes of more than 500 deletion strains were assayed in parallel. Of the deletion strains, 40 percent showed quantitative growth defects in either rich or minimal medium.
Iron–sulfur (Fe–S) cluster-containing proteins perform important tasks in catalysis, electron transfer and regulation of gene expression. In eukaryotes, mitochondria are the primary site of cluster formation of most Fe–S proteins. Assembly of the Fe–S clusters is mediated by the iron–sulphate cluster assembly (ISC) machinery consisting of some ten proteins.