Dr Taru Tukiaineni seminar “X-kromosoomi inaktivatsioon – rakkudest, populatsioonidest ja mõjust fenotüübile” | Tartu Ülikool

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TÜ üksuste kontaktandmed

humanitaarteaduste ja kunstide valdkond
Faculty phone: 
737 5341
Faculty address: 
Jakobi 2, ruumid 116–121, 51014 Tartu
  • valdkonna dekanaat
    Faculty phone: 
    737 5341
    Faculty address: 
    Jakobi 2, ruumid 116–121, 51005 Tartu
  • ajaloo ja arheoloogia instituut
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    737 5651
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • eesti ja üldkeeleteaduse instituut
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    737 5221
    Faculty address: 
    Jakobi 2, IV korrus, 51005 Tartu
  • filosoofia ja semiootika instituut
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    737 5314
    Faculty address: 
    Jakobi 2, ruumid 309–352, 51005 Tartu
  • kultuuriteaduste instituut
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    Faculty address: 
    Ülikooli 16, 51003 Tartu
  • maailma keelte ja kultuuride kolledž
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    Lossi 3, 51003 Tartu
  • usuteaduskond
    Faculty phone: 
    737 5300
    Faculty address: 
    Ülikooli 18-310, 50090 Tartu
  • Viljandi kultuuriakadeemia
    Faculty phone: 
    435 5232
    Faculty address: 
    Posti 1, 71004 Viljandi
sotsiaalteaduste valdkond
Faculty phone: 
737 5957
Faculty address: 
Lossi 36, 51003 Tartu
  • valdkonna dekanaat
    Faculty phone: 
    737 5900
    Faculty address: 
    Lossi 36, 51003 Tartu
  • haridusteaduste instituut
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    737 6440
    Faculty address: 
    Salme 1a–29, 50103 Tartu
  • Johan Skytte poliitikauuringute instituut
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    737 5582
    Faculty address: 
    Lossi 36–301, 51003 Tartu
  • majandusteaduskond
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    737 6310
    Faculty address: 
    J. Liivi 4, 50409 Tartu
  • psühholoogia instituut
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    Faculty address: 
    Näituse 2, 50409 Tartu
  • õigusteaduskond
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  • ühiskonnateaduste instituut
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    Lossi 36, 51003 Tartu
  • Narva kolledž
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    Faculty address: 
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  • Pärnu kolledž
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    Faculty address: 
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meditsiiniteaduste valdkond
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737 5326
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Ravila 19, 50411 Tartu
  • valdkonna dekanaat
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    737 5326
    Faculty address: 
    Ravila 19, 50411 Tartu
  • bio- ja siirdemeditsiini instituut
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    Faculty address: 
    Biomeedikum, Ravila 19, 50411 Tartu
  • farmaatsia instituut
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    Nooruse 1, 50411 Tartu
  • hambaarstiteaduse instituut
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    Raekoja plats 6, 51003 Tartu
  • kliinilise meditsiini instituut
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    Faculty address: 
    L. Puusepa 8, 50406 Tartu
  • peremeditsiini ja rahvatervishoiu instituut
    Faculty phone: 
    737 4190
    Faculty address: 
    Ravila 19, 50411 Tartu
  • sporditeaduste ja füsioteraapia instituut
    Faculty phone: 
    737 5360
    Faculty address: 
    Jakobi 5–205, 51005 Tartu
loodus- ja täppisteaduste valdkond
Faculty phone: 
737 5820
Faculty address: 
Vanemuise 46–208, 51014 Tartu
  • valdkonna dekanaat
    Faculty phone: 
    737 5820
    Faculty address: 
    Vanemuise 46–208, 51005 Tartu
  • arvutiteaduse instituut
    Faculty phone: 
    737 5445
    Faculty address: 
    J. Liivi 2, 50409 Tartu
  • Eesti mereinstituut
    Faculty phone: 
    671 8902
    Faculty address: 
    Mäealuse 14, 12618 Tallinn
  • füüsika instituut
    Faculty address: 
    W. Ostwaldi 1, 50411 Tartu
  • keemia instituut
    Faculty phone: 
    737 5261
    Faculty address: 
    Ravila 14a, 50411 Tartu
  • matemaatika ja statistika instituut
    Faculty phone: 
    737 5860
    Faculty address: 
    J. Liivi 2, 50409 Tartu
  • molekulaar- ja rakubioloogia instituut
    Faculty phone: 
    737 5011
    Faculty address: 
    Riia 23, 23b–134, 51010 Tartu
  • Tartu observatoorium
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    737 4510
    Faculty address: 
    Observatooriumi 1, Tõravere, 61602 Tartumaa
  • tehnoloogiainstituut
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    737 4800
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • ökoloogia ja maateaduste instituut
    Faculty phone: 
    737 5835
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Asutused
  • raamatukogu
    Faculty phone: 
    737 5702
    Faculty address: 
    W. Struve 1, 50091 Tartu
  • teaduskool
    Faculty phone: 
    737 5581
    Faculty address: 
    Uppsala 10, 51003 Tartu
  • genoomika instituut
    Faculty phone: 
    737 4000
    Faculty address: 
    Riia 23b, 51010 Tartu
  • muuseum
    Faculty phone: 
    737 5674
    Faculty address: 
    Lossi 25, 51003 Tartu
  • loodusmuuseum ja botaanikaaed
    Faculty phone: 
    737 6076
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Tugiüksused
  • ettevõtlus- ja innovatsioonikeskus
    Faculty phone: 
    737 6339
    Faculty address: 
    Lossi 3, III korrus, 51003 Tartu
  • grandikeskus
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    737 6215
    Faculty address: 
    Lossi 3, III korrus, 51003 Tartu
  • hankeosakond
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    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • infotehnoloogia osakond
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    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • kantselei
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    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • kinnisvaraosakond
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    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • kirjastus
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    Faculty address: 
    W. Struve 1, 50091 Tartu
  • personaliosakond
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    737 5145
    Faculty address: 
    Ülikooli 18, ruumid 302 ja 304, 50090 Tartu
  • rahandusosakond
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    737 5125
    Faculty address: 
    Jakobi 4, 51005 Tartu
  • rektoraadi büroo
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    737 5600
    Faculty address: 
    Ülikooli 18, 51014 Tartu
  • siseauditi büroo
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    Ülikooli 17–103, 51005 Tartu
  • Tallinna esindus
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    737 6600
    Faculty address: 
    Teatri väljak 3, 10143 Tallinn
  • turundus- ja kommunikatsiooniosakond
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    737 5687
    Faculty address: 
    Ülikooli 18, ruumid 102, 104, 209, 210, 50090 Tartu
  • õppeosakond
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    737 5620
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • üliõpilasesindus
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    737 5400
    Faculty address: 
    Ülikooli 18b, 51005 Tartu
Muud üksused
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    737 5371
    Faculty address: 
    Ujula 4, 51008 Tartu
  • MTÜ Tartu Üliõpilasküla
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    740 9959
    Faculty address: 
    Narva mnt 25, 51013 Tartu
  • MTÜ Tartu Üliõpilasmaja
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    730 2400
    Faculty address: 
    Kalevi 24, Tartu
  • SA Tartu Ülikooli Kliinikum
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    Faculty address: 
    L. Puusepa 1a, 50406 Tartu
  • Tartu Ülikooli Sihtasutus
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    737 5852
    Faculty address: 
    Ülikooli 18a–106, Tartu

Dr Taru Tukiaineni seminar “X-kromosoomi inaktivatsioon – rakkudest, populatsioonidest ja mõjust fenotüübile”

Kuupäev: 
27.11.2019 - 12:00 kuni 13:00

Olete oodatud osa võtma Dr Taru Tukiaineni (Soome Molekulaarmeditsiini Instituut, Helsingi Ülikool, Soome Teaduste akadeemia) seminarist “X-kromosoomi inaktivatsioon – rakkudest, populatsioonidest ja mõjust fenotüübile” kolmapäeval, 27. novembril kell 12.00-13.00 Biomeedikumi auditooriumis 1006.

Abstract: “X chromosome inactivation – from cells to population and phenotypes”

X chromosome inactivation (XCI) serves to balance the X-chromosomal dosage between XX females and XY males by silencing the transcription from one of the two X chromosomes in female cells. The silencing by XCI is, however, largely incomplete, as first established more than a decade ago: up to one third of X chromosome genes escape from XCI, i.e., remain expressed from both X chromosomes in females to some degree. This incompleteness in XCI may be a contributor to male-female differences, yet given technological limitations and lack of suitable data sets, few comprehensive studies on XCI and its downstream effects in human samples have been conducted.

To systematically survey the extent and transcriptome impacts of XCI across human tissues, we have analyzed over 5,500 transcriptomes from the GTEx project set together with ~1000 single-cell transcriptomes, both combined with genomic sequence data. In line with previous work, we find that incomplete XCI affects at least 23% of X-chromosomal genes. Given the unprecedented resolution and breadth of our data, we further demonstrate that XCI is generally uniform across human tissues, but with notable examples of heterogeneity between tissues, individuals and cells, and provide insights into the sources of variability in XCI. Our data also shows that a large majority of escape genes show male-female expression differences detectable at population-level, thus highlighting the potential between-sex diversity introduced by incomplete XCI.

To complement these transcriptome discoveries, we have also undertaken genetic analyses in the UK Biobank data set to determine the impact incomplete XCI on complex trait genetic architecture. Male-female comparisons of genetic associations demonstrate that incomplete XCI is indeed reflected as subtle sex differences in X-chromosomal GWAS that can manifest as sex differences in phenotypic traits.

Overall, these investigations into human XCI, facilitated by the deployment of several complementary genomic approaches, helps to increase our understanding of the extent and impacts of the incompleteness of XCI.

Taru Tukiainen is an Academy Research Fellow and a group leader at the Institute for Molecular Medicine Finland (FIMM) and holds the title of docent in genomics at University of Helsinki. Taru received her D.Sc. (Tech.) degree in computational systems biology from Aalto University, Espoo, Finland, in 2012 for her research on the genetic underpinnings of metabolomics traits in Finnish population cohorts. In 2013-2015, Taru worked as a postdoctoral researcher with Daniel MacArthur at the Massachusetts General Hospital and the Broad Institute, where her work focused on the application of transcriptomics to understand the impacts of genetic variation and epigenetic phenomena. After returning to Finland, Taru completed the three-year Academy of Finland postdoctoral project at FIMM on the role of the X chromosome in human complex traits, prior to launching her own research group in 2018. Taru’s current research interest is in elaborating the biology of sex differences in health and disease using human genomics data sets and tools, with a particular focus on sex chromosomes and X-inactivation.

Selected publications related to the topic of the seminar:

  • Tukiainen T, et al. Landscape of X chromosome inactivation across human tissues. Nature 2017; 550(7675):244-248.
  • Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, et al; Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016;536(7616):285-91.
  • Tukiainen T, et al. Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation. PLoS Genet 2014; 10(2):e1004127.
  • Kettunen J*, Tukiainen T*,  et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat Genet 2012;44(3):269-76.
Korraldaja: 
Maris Laan
Toimumiskoht: 
Ravila 19-1006
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