Genes and Language Jackendoft fas, and Dawid Aaron. 190, Hesew of More Than Cool Reazon.\ Fed Guide to Poetic Metaphor, by. LakolfandM. Turner Languages 320-38. Lakoff. George, 1982 “The contemporary theory of metaphor” In “Metaphor and Though, A Orton, 202-5. Cambridge Cambridge University res. Labo) Georg, and Mark Johnson, 1980. Metaphors Wi Live By Chicago: University of Chicago Press $1999, Phiosopy inthe Fess The Embodied Mind and ts Challenge to Weston Thought Nev York: ask Books, Lakof George nd Mark Pune 1989, re Tam Coot Reason Fed ‘Guide to Poetic Metaphor. Chicago University Chicago Press. Murph, Gregory. 1886. “On metaphoric representation." Copiton 173-204, Musot, Andreas, 2008, “Metaphor and _conceptial evo tion” Metaphors 7 53-75, Available online at p/w metaphor de. ‘ter, Jseph, 200, Metaphor in Conte: Cambridge, MAY BIT Press GENES AND LANGUAGE Why Should One Expect Genes to Play an Important Role in Language? Unlike offspring of any other species, ordinary human children routinely acquire complex language, characterized by open: ended vocabularies and productive syntax. This eannot be a result of input alone because juveniles of other closely related pnmate species, such as chimpanzees, do not develop human: like Tanguages even with extensive tutelage (Terrace, Petito, etal. 1980) From the perspective of biology, the question fs not ‘whether genes play resin language but haw (Fisherand Marcus 2008). Clearly, the words and grammar that are specific any par ticular language are leaened through exposure (© appropeiate models. Nevertheless, the peculiar human capacity to acquire and use language depends on a rich misture of neural systems ‘that must be biologically constrained. These include mecha- nisms Mat need to simultaneously coordinate s¥NTACTIC, SEMANTIC, PHONOLOGICAL, and PRAGMATIC representations With one another, with motor and sensory systems, and vith both speaker's and listener's knowledge ofthe world. The func ‘ional properties of the relevant neural systemsare largely deter ‘mined by the cellular architecture of dhe human brain, sshich 'sitself the product af ongoing interactions between genes and ‘he environment (Marcus 2004). Genes coneibute tothe birt, ‘gration, differentiaion, patterning, and connectivity of new tons during embryogenesis and development, and they con ‘ine to contribute to online functions inthe mature brain, for ‘saimple, by mediating changes in the strengths of eonnections beaveen neurons, Iislikely hat hundzeds oreven thousands of ens pat neural systems that underlie language, some in ways that may be tailored to linguistic functions, athers (Ike housekeeping fenes that govern the basic metabolic processes a al ells) hat eat are not, As yet, itis unknown how many of the genes inthe human fenome are closely ted o language, but studies of developmen: ‘al smdromes that primarily distupt speech and/or language stills ive strong reason tobelieve that stick genes are thereto be ate in the development and maintenance of the found (Fisher, Li, eta. 2003). Speech and language disorders are repeatedly observed to cluster in families, and twin studies Indicate that they are highty herble (Bishop 2001). In recent ‘years, geneticists have successfully ocated chromosomal sites Within the human genome that are likely to harbor genetic risk factors involved in developmental language disorders (e.g The SU Consortium 2002). Moreover, they have even been able to eto in on aspeciic gene, FONP2, thats implicated in one par Uicular disorder affecting speech and language (La, Fisher, eta, 2001), FOXP2: What Is It and How Was It Discovered? “The FOXP2 gone, found an human chromosome 7. codes for a special type of regulatory protein. technically known asa fork hhead-box (or FOX) transcription factor. his class of proteins hnelps govern when and where genes are expressed {switehed on and off) during embryogenesis, in postnatal development, and fn the manure organist (Leman, Sowden, etal, 2003), Fach FOX protein contains a special structure, calle a forkead- box domain, which enablesitobind tothe DNA ofa target gene and fect how much ofthe product ofthat target gene is made in the cell. Transcription factors ike these may afoct many dows ‘stream targetsin chorus and, thus, present central components ‘of gene regulatory networks that are important for implementing developmental programs, allowing cells to respond to sigaals, ‘and soon, The discovery of the human FOXP2 gene originated in stud ies ofa large three- generational family (dhe XE-family) suffering, from a rare form of speech and language impairment (Hurst, Baraitser, etal 1990; Gopnik and Crago 1991). The disorder is characterized primeeily by severe difficulties in the learning and production of sequences of mouth movements that age neces sary fr fluent speech, usally referred to as developmental vr bal dyspraxia or cldood aprasa of speech (Vargha-Khaden, Watkins, et al 1998). Affected individuals simultaneously dis play problems in a wide range of language-related bile, in hoth oral and writen domains, with impact on receptive os well as expressive skills (Watkins, Bronkers et al 2002: Vargha hadem, Gadian, et. 2008), all 15 ofthe affected people nthe KE family have inherited a mutation altering single nucleotide leuterin the DNA code ofthe FOXP2 gene (Lal Fisher etal 2001), ‘This change affects the structure of the encoded FOXP2 protein and prevents it from functioning propery (Veenes, Nicod, et al 2006) Although the mutation in question s private to the KE fai diferent mutations disrupting FOXP2 function have heen dis covered in other famille, showing comparable problems wit speech and language acquisition (MacDermot, Bonora, et al 2005), In all cases identified thus fa, the mutations have beer heterozygous; that is. people with the disorder have @ mua- don in only one copy of FOXP2, wu (Humans are diploid organisms, carrying aso copies of every ‘gene, one inherited from the father. the othe fo ‘with few exceptions sach as the genes on the sex cheomo- somes.) Ih cent eases of FOXP2- related disorder suggest tha affected people hhave reduced amounts of working FONP2 protein brain cuits tha are important for speech anel language. Therefore, the the other copy is intact. the mother, ‘consistent observations of heterozygosity in lle 3aGenes and Language ‘amount (dosage) of FOXP2 may'be aeritca factor in the proper dovelopment of speech and language skills Does That Make FOXP2 the “Language Gene"? No. Although studies of people carrying damaged versions of FOXP2 ate consistent with a tole (or roles) in the development and/or processing of language. itis already apparent from genetic studies that no single gene is exclusively responsible for this distinctive human trait. Indeed, FOXP2 is implicated (thus far) only in one rate form of disorder, and not mutated in people lagnosed with more common variants of SPECIFIC LANGUAGE rupainstet (SLI) (Newbury, Bonors, etal 2002) Instead, most developmental language disorders are likely o be mulifacto ‘al: the product ofmulliple genetic risk actors theiinceractions ‘with one another and interactions with the environment (Fisher, Lal eta 2003) Its also worth noting that mutation of FOXP2 Impaits noronlv aspects of speech and language but also aspects ‘of nonlingaistic orofacial motor conteol (Watkins, Dronkers, et al, 2002; Vangha-Khadem, Gaulan, etal 205). More broadly, given what we know about the fundamen tals of geneties, developmental biology, and neuroscience, iis highly unlikely that there isa single human-specific gene whose sole purgose isto endow our species with the capacity to acquire langage, individual genes do not specily particular behavioral ‘outputs oraspects of cognitive function, Rather, they contain the codes tor assembling individual molecules that act in highly xeraetive fashion with other molecules in order to build and ‘maintain a working human besin (Marcus 2008). Often, a gene ‘vill have a primary function that is very clearly defined at che cellular level - for example, by encoding an enzyme, structural protein, jon channel, signaling molecule, oF receptor ~ but the ‘pathways that link the gene to higher-order bran funetion will nevertheless be comple, indirect, and dificult to disentangle (Fisher 2006), ‘he “language gene” shorthand is also misleading because ‘most if not all, of the genes that are involved in language are likely to play other roles, elsewhere inthe brain and/or in other tissues ofthe body. The expression of FOXP? is nor confined t0 classical language-telated regions of the cortex, or even to the brain, Instead, it extends wo additional brain structures, stich fs the BASAL GANGLIA, THALAMUS, and CERERELLUM (L Gorell, etal, 2003), and 1 other partsof the body (eg, the lungs [Shu, Yangetal. 2001): it also has close counterparts in all verte brates, as discussed in the section on evolution In sum, FOXP2 ‘an property be a called “a ene thar patiejpates in language Ihut not “the language gene” of even a gene that participates exclusively guage. How Representative ls FOXP2? Are Other Genes Involved in ‘Language Likely to Act in Similar Ways? leis dificule to say for sue; thus far, the FOXP2 gene represents theonlyknown example where point mutations have bees linked tw adevelopmental disorder which primarily affects speech and language, However, since disruptions of FONP2are found inonly 4 very small subset of people with language-rlated disorders (Newbury, Bonora, etal. 2002; MacDermot, Bono, etal 2005), itis clear thar dhere must be other genetic effects that remain 10 he discovered 32 Genetic studies of typical forms of specific language impair- ment have identified other genomic regions that ate likely to be relevant to language, and researchers are focusing consider able attention on chose chromosomal ste in the hope of pin ning down particular genes (eg, The SLI Consortium 2002). For developmental dyslexia, « disorder primacily characterized by reading disability but underpinned by subtle persistent deficits in language processing, it has been possible © home in on sev «eral candidate genes (DYNICI, KIAA0319, DCDC2, and ROBO!) “These genes dir from FOXP2 in that there have been no spe: cific causal mutations identified - instead, is thought thatthe Increased risk of dyslexia stems from as-yet unknown variants in the regulatory parts of those genes that govern their expression (Fisher 2006). Nevertheles, there are some striking parallels ‘with FOXP2: each ofthe djsexia candidate genes shows wide: spread expression paterns in multiple ercults in che bran, and teach is active in additional tissues, not only the brain, None of| the genesis unique to humans; for example, highly similar ver sions ofeach are found both in other primatesand in dents. At thisstage, theres litle understanding of why alterations in these igenes should have relatively specific effects on reading abilities, although their basic neurobiological functions are beginning be defined three of the genes (DYXIC1, KIAA019, and DCDC2) shave been linked 1 neuronal migration, and the fourth (ROBO!) codes for a receptor protein involved in signal transduction, ‘which helps regulate axon/dendrite guidance, At the time of writing, there are indications that alterations Jn gene dosage may emerge asa general theme underlying overt speech/language deficits, For example, it has been recent shown that duplications of a specie region on chromosome 7 {faraway from the site ofthe FOXP2 gene) ean cause speech deficits (Somerville, Meri, etal, 205). What is especialy inter- esting about this findings the fact thatthe relevant par of chro _mosome 7, which contains several different genes, corresponds tw the egion that is mast commonly deleted in cases of Williams syndrome, awell-studied cisorderin which languageskillscan be relatively well preserved as compared to ther abilities In her ‘words, while deletion of thar part ofchromosome7 (Le. reduced ‘ene dosage) tends to spare language, duplication ofthis same ‘set of genes (increased gene dosage) leads to speech dscuptions Similarly, there is evidence co suggest that the numberof func tional copies ofa chromosome 22 gene called SHANKS, recent implicated in autism spectrum disorders, may be critical for speech development (Durand, Betancur, ea 2007). Language, like many aspects of biology; is ikely co depend on a precise ba: ance among many different molecules. ‘What Can Genes Tell Us about the Evolution of Language? Genes like species, are the product of the process that Darwin called “descent with modification Each gene hasan evolution fry history, with is current function & modification of eat funetions. To the extent that the language system is she prot ofdescent with modi language can be expected to have counterparts in nonlingulstt species. Assuch, comparisons ofgene sequences and expression patterns in ferent species can help cast ight on language e¥0 lution, identifying which ofthe relevant neurogenetic pathways are shared with other species and which have been modified son. most genes that are asoctated withGenes ar Language fon the lineage chat led (o modern humans (Fisher and Marcus 2006). FOXP2 aguin appears representativein this regard. Following, the discovery of the gene, molecular studies have shown that itis presenti sinllar form in many vertebrates, including mammels, birds, reptiles, and fish, where tis expressed in corresponding regions of the brain to those observed in humans (eviewed by \Vargha-Khadem, Gadian, tal. 2005; Fisher and Marcus 2006), On the basis of such data. icappears that FOXP2is evolutionarily autclent, shared by many vertebrate spocts, regardless of specch and language ability, where it may have conserved functions in| brain cicuits involved in sensorimotor integration and motor- skill learning (Fisher and Marcus 2006) For example, the stria- ‘um in the BASAL GANGLIA Is a conserved site of high FOXP2 expression, which shows reduced gray matter densityin humans carrying FOXP2 mutations (Vargha-Khadem, Gadian, et al 2005). is intriguing that in songbirds, changes in expression of the gene in striatal Area X ~a key nucleus of the brain system ‘involved in songleamning appear to relate to alterationsin vocal plasticity (see Whit, Fisher, etal. 2006) Despite such notable conservations across distantly eelated Species, a comparison of the locus in different primates has {demonstrated that there was accelerated change in the FOXP2 protein sequence during human evolution, most likely due Positive selection (Enard, Praeworskl etal, 2002), Mathematical snalyses of genomic sequences from diverse human populations Suggest thatthe version of FONP2 none ubiquitous in modem humans arose within the last 200,000 years, concordant with se: tral archaeological estimates of the time of emergence of pro ficient spoken language (bid). We may never know for certain why these modifications spread throughout the population, but it seems plausible chat they proliferated due to some advantage “nherent in enhanced vocal communication, perhaps achieved hough modifeation of pathways already Inyolved in. motor: skill learn, Sil, Uhis does not mean that changes in FOXP2 ‘were the sole reason for the appearance of speech and language, ‘venif they did represent an important factor inthe evolution of ‘human communieation. What's on the Horizon? Technological advances prove one reason for optim. Techniques for characterizing genes and genames are quikly ‘ecoming more rapid, costeffetive, and efficent ~ which can “nly speed up ongoing searches for genes involved in speech and language For example, ithasrecenily become pssiblet sil taneously screen hundreds of thousands of genetic markers in People with disorder of intrest and compare the data to those ane rom contol se of unaected individuals, Given an Adequate sample size hiskind of approachcould uncover sublle ated with developmental at Sag disorders Before long, wil even e feasible to sequence ‘he entire genome of every person participating in a stds. We night also expect to see developments in the ways we ean image ‘ene expression partes inthe human bran, withthe hope that itmay one day be possible observe on-line changes in gene ‘expression in neural etcults dng language processing il it isa clear thre will ned major conceptual advances inorder "ommake sense of the vast quis of sequence and expression ie ditferences that are co daa that wil soon emerge, both in werms of sheer data analsis and in terms of relating these data to linguistic functions ‘Another exciting prospect is the use of genetic manipula tion in order to find out more about the functions of genes that are involved language, for example, by examining the function ‘of nonhuman counterparts t0 those genes (White, Fisker et a, 2006), In this way, individual genes may provide the fist molec larentry points into neural pathwaysinvolved in husman commu nieation, and a direct way to understand how the nsin processes ‘of descent and modification led to the remarkable and uniquely ‘human faculty for eomples language. Gary F, Marcus and Simon E,Fsher \WORKS CITED AND SUGGESTIONS FOR FURTHER READING Bishop, D.V. 2001 “Genetic and ensronmentl sss for specie fn tage impairment in chidee.” Philos Tans R Soe Land B Bil Sc 396.1407: 388-40 Durand, CM. .Betancur, t 207, “Morais inthe gon enciing the symapie scatflding protein SHANKS ae associa wih ats spectrum disorders” Nat Genet 381:25 7. nae, WM, Preewors, et ah, 2002, “Molecular elution of FONP2 gene nvolvdin speech and Language” Nur 98.840: 889-72 Fisher, 2006 “Tangedvebs: Tracingtheconnectionsberween gems and cognition.” Cognition 10122:270-7 she, 5.5 Lal eta. 2008 “Deciphering se genetichassofspete| and engage disorders” Amy Rev Neos 2657-20 Fisher SE and G, Mateus 206, The elven ape: Gees. Drains a ‘the evolution of language Nunure Reviews Geenes7 920. [Gopnik St and M. 8. Crago 1991. "Pama aggregation of develop ‘etal language dsorder”Cogntion 38.1: 13 Must ALM. Barat et al. 1980. "An extended fis with a dons analy inhetited speech disorder" Dev Med Chie 3252 Lai 8,6 EBs etal. 2001.79 fnkhes- dain gone ate severe speech and language disorder” Nae 13.85 1a CS. . Gevzli etal. 205. °FONP? expression during brat deh ‘pment colaedes wt adult stes of pathology in aseeve speech and language dsr” Ain 126 Part 11 2455-2 elena, 0-1. 1-C. Sowden, et 2003. "Fowsin developmentand ds ese,” Fonds Gane! 196: 28-44. MacDeemot KD. E Honora ea 2005. “densication of FON cation a5 noel cause of developmental speech and Language det "Am Mure Gene 766107400 Mateus GF. 2008. Te Birth of he Mind: How Fy Xun of Gene ‘hears he Completes of aman Though evs York, asi Books ‘Newbury D.F, E-Ronora eta. 2202." FONP2 nut aaa ey gone for aun or spect anguageimpaienent Flam Get Shu, W. Vang. ea 2001, “Charateszaton of 4 ew subfamily of singel Tokead (Fo) gees tha ate eee in dhe ag and ‘eta transcriptional peers.” Biol Chem 27629; 488-6 SU Consortium, The. 20." genomeside sca entessw9 none 702 344-98, Somerville, Ml CB. Meri et a 205 Severe express language ely elt to duplication ode lias Been focus” 8 Fg Me 9836: 1694-70 Teeraee, HLA Pt, a 1980,“ the gramnatie ‘of ape” tn Chen's Language 2 KE. Neb, ork Gaver. Vargs- Khadr, FD, G. Gad, eal 2005,FONPY and the noe anatomy of speech ange” Na Herron 2 1-8 3aGesture Varghu-Khadem, f. Kk, Watkins, eta 1998, “Neural bass of an Terie speech un large csorder.” Proc Nad! dead Sei US Vertes $C, 1 Nico a. 2006, “Functional genetic anny of mata "ons imlite na human speech anlage disorder” Hum Mel Watkins KE. NF. Droners tal. 2002, “ehaviouratanasis of a Ines! speech and language disorder Compaen with aquired aphain" Br 128 (Pant) 12-6 White, She SE. Fisher, eta, 2006, “Singing sce, songhirds, and ‘more: Models for FONP? Function and dystuction In human speech find ange” Neuro /2641 10976-8. GESTURE no Meas, jusirtable mental gestures. (cemark an 10 Lionel Tiling New York Times, Jane21, 2006 AL) What Is Gesture? Lionel Teiling in this non-mott, invokes an allto0-common view gesture The very phrase “hand waving” suggest trivial But let us imagine Tiling’s own gesture. It would have been (we «an predict) shat Cornelia Miller has called the "palm up open (PLIOH), the hand seeming to hold a "discursive object." holding, in fac, Triling’swew. These kinds of gestures have been linkedvo the conduit metaphor -the metaphor whereby language hand’ ‘orcognition is container holding some content. The PUOH isalsoone ofa species ofgesturetermed by Kendon. -gesticulation.” one of several Kinds of gesture he distinguished and that I arranged on *Kendon’s Continuum’ Gesticulation > Speseh-Linked + Pantomime > Emblems > ven though gestculation is only one point on the continuum, in stortlling. living space descriptions (Gneluding prepared lecture she overshelming gesture rype itis the academic discourse ‘and conversations gesticulation's 99 percent ofall gestures - and sure offeing the greatest penetration into language itself As one moves from gesticulation to SIGN LANGUAGE, 10 reciprocal changes take pla Firs, the degree to which speech is an obligatory accompaniment of gesture decreases. Second, the degree to which gesture shows the properties ofa language increases. Gesticolationsare obligatory accompanied by speech bur have properties unlike language. Speech-linked gestures, sich as “the parents were fine bur the Kids were [finger across throat sp are also obligatory performed with speech but relate to asa linguistic segment - sequentially, rather than concur: rently anid ina specific Hinguistic slot (stanlng in forthe com plement ofthe ver, for example). Pantomime, or dumb show by definition is not accompanied by speech. Emblems such as the “OK” sign have independent status as symbole forms. Signs in American Sign Language rnoraecompanied by spe SL) and athe sign languages are ch and while simultaneously speaking and signing ispossble for ASL English bilingual, thisisnot typi cal and the languages themselves have the essendal properties ofall languages. Clearly, therefore, speech and gesticulations (but not the ‘other points along Kendon’s Continuum) combine properties 308 Figure 1. Gestre combining entity, upward mavemet, and interior in ‘ane symbol (Computer any Fey Po) Table 1. Gesture speech binding eit interupton Domain Phenomenon Dalya autor tenabock Does rot spt epeech geste syeony. Suteing strstr ses est tutnng stern cancels ongoing stokes. Binaness Gestures oro when speaking ater tina Hoon 98 sien, Faney Speech and gesture ae compen o simple ie ander. Iniomaton exchange ‘Information seen in gesture eal 2s speech, and woe ve, that ane unalike, and this combination of unalikes occupies the same psychological instant a fact of importance forereating magery-language dialectic. 1 use gesture, rather than gesicula tion, ia the remainder ofthis entry The gesturefst theory of language origin holds that dhe fist form of language consisted largely of gestures, 10 be later su planted by speech - an idea going back o xienne de Condillae ‘he eighteenth century. Gesture frst has atracted much inteestin recent years. A dificult, however, is that it "predicts dhe wom ‘gestures, The intial gestures would have been speechless panto mimes, nonverbal actions with narrative potential, but noe the liculations that posedalectc oppositions to anguage at thetar en ‘of Kendon’s Continuum, Pantomime may indeed have heen pe sent bt, 80, dd not lea to the EVOLUTION of spe and gst units (growth points). Such units would Ukely have had their 080 adaptive value, An implication is that diferent evolutionary (2 jectores landed a diferent points along the contin, elected today in eiferent forms and ining patterns with speech,