Large study by Estonian researchers identified new genetic link to male infertility | University of Tartu

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Faculty of Arts and Humanities
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Jakobi 2, rooms 116–121, 51005 Tartu
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    Ülikooli 18–310, 50090 Tartu
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    J. Liivi 4, 50409, Tartu
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    Posti 1, 71004 Viljandi
Faculty of Social Sciences
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+372 737 5957
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Lossi 36, 51003 Tartu
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    + 372 737 5900
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    Lossi 36, 51003 Tartu
  • Institute of Education
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    Salme 1a–29, 50103 Tartu
  • Johan Skytte Institute of Political Studies
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    +372 737 5582
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    Lossi 36–301, 51003 Tartu
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    Narva mnt 18, 51009 Tartu
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    Näituse 2, 50409 Tartu
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    Näituse 20–324, 50409 Tartu
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    Lossi 36, 51003 Tartu
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    Raekoja plats 2, 20307 Narva
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    Ringi 35, 80012 Pärnu
Faculty of Medicine
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Ravila 19, 50411 Tartu
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    Biomeedikum, Ravila 19, 50411 Tartu
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    L. Puusepa 8, 50406 Tartu
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    Ravila 19, 50411 Tartu
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    +372 737 5360
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    Jakobi 5–205, 51005 Tartu
Faculty of Science and Technology
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+372 737 5820
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Vanemuise 46–208, 51014 Tartu
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    Narva mnt 18, 51009 Tartu
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    Mäealuse 14, 12618 Tallinn
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    W. Ostwaldi 1, 50411 Tartu
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    Ravila 14a, 50411 Tartu
  • Institute of Genomics
    Faculty phone: 
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    Riia 23b, 51010 Tartu
  • Institute of Mathematics and Statistics
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    Narva mnt 18, 51009 Tartu
  • Institute of Molecular and Cell Biology
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    Riia 23, 23b–134, 51010 Tartu
  • Tartu Observatory
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    Observatooriumi 1, Tõravere, 61602 Tartumaa
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    Vanemuise 46, 51003 Tartu
Institutions
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    Faculty phone: 
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    W. Struve 1, 50091 Tartu
  • Youth Academy
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    Uppsala 10, 51003 Tartu
  • Museum
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    Lossi 25, 51003 Tartu
  • University of Tartu Natural History Museum and Botanical Garden
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Support Units
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    W. Struve 1, 50091 Tartu
Other Units
  • University of Tartu Academic Sports Club
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    Ujula 4, 51008 Tartu
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    Kalevi 24, 51010 Tartu
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    L. Puusepa 1a, 50406 Tartu
  • University of Tartu Foundation
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    Ülikooli 18, 50090 Tartu
  • View all other units

Contacts of UT units

Faculty of Arts and Humanities
Faculty phone: 
+372 737 5341
Faculty address: 
Jakobi 2, rooms 116–121, 51005 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5341
    Faculty address: 
    Jakobi 2, rooms 116–121, 51005 Tartu
  • Institute of History and Archaeology
    Faculty phone: 
    +372 737 5651
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Estonian and General Linguistics
    Faculty phone: 
    +372 737 5221
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Philosophy and Semiotics
    Faculty phone: 
    +372 737 5314
    Faculty address: 
    Jakobi 2, rooms 309–352, 51005 Tartu
  • Institute of Cultural Research
    Faculty phone: 
    (+372) 737 5223
    Faculty address: 
    Ülikooli 16, 51003 Tartu
  • School of Theology and Religious Studies
    Faculty phone: 
    +372 737 5301
    Faculty address: 
    Ülikooli 18–310, 50090 Tartu
  • College of Foreign Languages and Cultures
    Faculty address: 
    J. Liivi 4, 50409, Tartu
  • Viljandi Culture Academy
    Faculty phone: 
    +372 435 5232
    Faculty address: 
    Posti 1, 71004 Viljandi
Faculty of Social Sciences
Faculty phone: 
+372 737 5957
Faculty address: 
Lossi 36, 51003 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5900
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Institute of Education
    Faculty phone: 
    +372 737 6440
    Faculty address: 
    Salme 1a–29, 50103 Tartu
  • Johan Skytte Institute of Political Studies
    Faculty phone: 
    +372 737 5582
    Faculty address: 
    Lossi 36–301, 51003 Tartu
  • School of Economics and Business Administration
    Faculty phone: 
    +372 737 6310
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Institute of Psychology
    Faculty phone: 
    +372 737 5902
    Faculty address: 
    Näituse 2, 50409 Tartu
  • School of Law
    Faculty phone: 
    +372 737 5390
    Faculty address: 
    Näituse 20–324, 50409 Tartu
  • Institute of Social Studies
    Faculty phone: 
    +372 737 5188
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Narva College
    Faculty phone: 
    +372 740 1900
    Faculty address: 
    Raekoja plats 2, 20307 Narva
  • Pärnu College
    Faculty phone: 
    +372 445 0520
    Faculty address: 
    Ringi 35, 80012 Pärnu
Faculty of Medicine
Faculty phone: 
+372 737 5326
Faculty address: 
Ravila 19, 50411 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5326
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Biomedicine and Translational Medicine
    Faculty phone: 
    +372 737 4210
    Faculty address: 
    Biomeedikum, Ravila 19, 50411 Tartu
  • Institute of Pharmacy
    Faculty phone: 
    +372 737 5286
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Dentistry
    Faculty phone: 
    +372 731 9856
    Faculty address: 
    Raekoja plats 6, 51003 Tartu
  • Institute of Clinical Medicine
    Faculty phone: 
    +372 737 5323
    Faculty address: 
    L. Puusepa 8, 50406 Tartu
  • Institute of Family Medicine and Public Health
    Faculty phone: 
    +372 737 4190
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Sport Sciences and Physiotherapy
    Faculty phone: 
    +372 737 5360
    Faculty address: 
    Jakobi 5–205, 51005 Tartu
Faculty of Science and Technology
Faculty phone: 
+372 737 5820
Faculty address: 
Vanemuise 46–208, 51014 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5820
    Faculty address: 
    Vanemuise 46–208, 51003 Tartu
  • Institute of Computer Science
    Faculty phone: 
    +372 737 5445
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Estonian Marine Institute
    Faculty phone: 
    +372 671 8902
    Faculty address: 
    Mäealuse 14, 12618 Tallinn
  • Institute of Physics
    Faculty address: 
    W. Ostwaldi 1, 50411 Tartu
  • Institute of Chemistry
    Faculty phone: 
    +372 737 5261
    Faculty address: 
    Ravila 14a, 50411 Tartu
  • Institute of Genomics
    Faculty phone: 
    +372 737 4000
    Faculty address: 
    Riia 23b, 51010 Tartu
  • Institute of Mathematics and Statistics
    Faculty phone: 
    +372 737 5860
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Institute of Molecular and Cell Biology
    Faculty phone: 
    +372 737 5027
    Faculty address: 
    Riia 23, 23b–134, 51010 Tartu
  • Tartu Observatory
    Faculty phone: 
    +372 737 4510
    Faculty address: 
    Observatooriumi 1, Tõravere, 61602 Tartumaa
  • Institute of Technology
    Faculty phone: 
    +372 737 4800
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Ecology and Earth Sciences
    Faculty phone: 
    +372 737 5835
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Institutions
  • Library
    Faculty phone: 
    +372 737 5702
    Faculty address: 
    W. Struve 1, 50091 Tartu
  • Youth Academy
    Faculty phone: 
    +372 737 5581
    Faculty address: 
    Uppsala 10, 51003 Tartu
  • Museum
    Faculty phone: 
    +372 737 5674
    Faculty address: 
    Lossi 25, 51003 Tartu
  • University of Tartu Natural History Museum and Botanical Garden
    Faculty phone: 
    +372 737 6076
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Support Units
  • Administrative Office
    Faculty phone: 
    +372 737 5606
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Centre for Entrepreneurship and Innovation
    Faculty phone: 
    +372 737 4809
    Faculty address: 
    Narva mnt 18, 51009, Tartu
  • University Office in Tallinn
    Faculty phone: 
    +372 737 6600
    Faculty address: 
    Teatri väljak 3, 10143 Tallinn
  • Estates Office
    Faculty phone: 
    +372 737 5137
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Finance Office
    Faculty phone: 
    +372 737 5125
    Faculty address: 
    Jakobi 4, 51005 Tartu
  • Grant Office
    Faculty phone: 
    +372 737 6215
    Faculty address: 
    Raekoja plats 9, 51004 Tartu
  • Information Technology Office
    Faculty phone: 
    +372 737 6000, IT-help: +372 737 5500
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Human Resources Office
    Faculty phone: 
    +372 737 5145
    Faculty address: 
    Ülikooli 18, rooms 302 and 304, 50090 Tartu
  • Internal Audit Office
    Faculty address: 
    Ülikooli 18-244, 51005 Tartu
  • International Cooperation and Protocol Office
    Faculty phone: 
    +372 737 6123
    Faculty address: 
    Ülikooli 18, rooms 104, 301, 305, 50090 Tartu
  • Marketing and Communication Office
    Faculty phone: 
    +372 737 5687
    Faculty address: 
    Ülikooli 18, rooms 102, 104, 209, 210, 50090 Tartu
  • Office of Academic Affairs
    Faculty phone: 
    +372 737 5620
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Procurement Office
    Faculty phone: 
    +372 737 6632
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Rector's Strategy Office
    Faculty phone: 
    +372 737 5600
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Student Council
    Faculty address: 
    Ülikooli 18b, 51005 Tartu
  • University of Tartu Press
    Faculty phone: 
    +372 737 5945
    Faculty address: 
    W. Struve 1, 50091 Tartu
Other Units
  • University of Tartu Academic Sports Club
    Faculty phone: 
    +372 737 5371
    Faculty address: 
    Ujula 4, 51008 Tartu
  • Tartu Student Village
    Faculty phone: 
    +372 740 9959
    Faculty address: 
    Narva mnt 25, 51013 Tartu
  • Tartu Students’ Club
    Faculty phone: 
    +372 730 2400
    Faculty address: 
    Kalevi 24, 51010 Tartu
  • Tartu University Hospital
    Faculty address: 
    L. Puusepa 1a, 50406 Tartu
  • University of Tartu Foundation
    Faculty phone: 
    +372 737 5852
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • View all other units

Large study by Estonian researchers identified new genetic link to male infertility

Researchers from the University of Tartu and the Wellcome Sanger Institute (UK) carried out the largest and most exhaustive genetic study to date looking at Y-chromosome-linked infertility in men. Analysing the DNA of patients with spermatogenic impairment at the Andrology Centre of Tartu University Hospital, researchers found a previously undescribed subtype of the Y chromosome, which, in a substantial number of men of European ancestry, increases the risk of fertility issues nearly nine times. The discovery improves the diagnostics of infertility in men who carry this gene variant as well as their early clinical management and counselling.

The findings published in eLife show that men with this unstable subtype of the Y chromosome have a significantly increased risk of genomic rearrangements. These rearrangements affect the sperm production process (spermatogenesis) and consequently, these men can be up to nine times more likely to have fertility issues. Molecular diagnostics of this genetic variant could help identify those at higher risk in their early adulthood, giving them the chance to make decisions about future family planning early on. Currently, the exact cause of infertility remains unknown in more than half of men with spermatogenic impairment.

In the large-scale study led by geneticist Pille Hallast and conducted in cooperation between the Human Genetics Research Group of the University of Tartu Institute of Biomedicine and Translational Medicine, the Andrology Centre of Tartu University Hospital and the Wellcome Sanger Institute, the Y chromosomes of more than 2,300 Estonian men were analysed. The men were involved in the study at the Andrology Centre of Tartu University Hospital by the team of Professor Margus Punab.

The Y-chromosomal region studied in this paper has been associated with male infertility before, but this is the first time the genetic variation of such a large clinical sample has been investigated. According to Hallast, this is the most sophisticated in-depth analysis of the genetic variation of Y chromosome in patients with spermatogenic impairment.

One of the senior co-authors of the study, Professor of Human Genetics of the University of Tartu Maris Laan said that the previously undescribed subtype of Y chromosome discovered in cooperation with colleagues from the UK causes a high risk of severe spermatogenic impairment. “At one point during evolution, the ‘ancestor’ of these Y chromosomes experienced the inversion of a long DNA segment, causing instability in this Y chromosome and predisposing to the deletion of surrounding DNA segments,” explained Laan.

This inverted Y chromosome variant is relatively common and does not always lead to partial deletion of DNA or fertility issues. Therefore, it can be passed down in families and remain unnoticed until an offspring has infertility issues. According to estimates, in this Y lineage, the deletion of genetic material that harms spermatogenesis occurs in about one man in ten or even less often. This subtype is carried by a significant number of men of European descent, but it is not found as widely in other continents. In Estonia, it can be found in 5–6% of men, but in Poland and Czechia, the figure is nearly 20%.

The world’s leading population geneticist Dr. Chris Tyler-Smith, collaborator working at the Wellcome Sanger Institute, underlined the need for more synergetic research between teams in population and reproductive genetics to map unfavourable Y-chromosomal variants linked to impaired spermatogenesis and understand how these have evolved and survived demographically.

Professor Maris Laan emphasised the potential practical value of molecular diagnostics of this research, as early identification of the genetic reason of male spermatogenic impairment could allow a more focused clinical management of infertile couples. “While the deletions in the studied Y chromosome region were previously known to interfere with sperm production, we now know that the deletion of DNA sequences leads to the genetic predisposition to infertility depending on the Y-chromosomal lineage,” she added.

The research “A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans” published in eLife on 30 March was funded by the Estonian Research Council (PUT1036 and IUT34-12) and the Wellcome Sanger Institute.

Further information:
Maris Laan
Professor of Human Genetics of the University of Tartu
+372 5349 5258
maris.laan [ät] ut.ee

Pille Hallast
Senior Staff Scientist of the Wellcome Sanger Institute
pille.hallast [ät] ut.ee

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