Department of Molecular Bases of Human Genetics | Institute of Molecular Genetics

Limborska Svetlana Andreevna


List of staff

Department of Molecular Bases of Human Genetics was established in 1988. Head of the Department is the laureate of the State Prize of the Russian Federation, Ph.D., Professor Svetlana A. Limborska.

Laboratories within the Department:
Laboratory of Human Molecular Genetics
Laboratory of Functional Genomics
List of staff
Svetlana A. Limborska, Ph.D., Professor, Head of the Department and Laboratory of Human Molecular Genetics
Andrey V. Khrunin, Ph.D., Deputy Head of the Department, Senior Researcher
Lyudmila V. Dergunova, Ph.D., Head of Laboratory of Functional Genomics
Ivan B. Filippenkov, Ph.D., Senior Researcher
Veronika G. Dmitrieva, Ph.D., Researcher
Vasily V. Stavchansky, Ph.D., Researcher
Olga Yu. Sudarkina, Ph.D., Researcher
Alexandra V. Rozhkova, Ph.D., Junior Researcher
Elena A. Smirnova, Ph.D., Chief Specialist
Gennady V. Khvorykh, Chief Specialist
Elena V. Nosova, Ph.D.-Student, Engineer of the first Category
Liya V. Valieva, Ph.D.-Student, Engineer of the first Category
Aydar M. Aliev, Engineer of the first Category
Nadezhda N. Ledeneva, Lead Engineer
Julia A. Remizova, Senior Assistant


Main directions of research

  • Structural and functional analysis of genomes, their instability, evolution and pathological changes.
  • Ethnic genomics of the peoples of Russia and neighboring countries.
  • Analysis of the structural and functional organization of human genes.
  • Analysis of the transcriptome of cells of various tissues in normal conditions, with ischemia and pharmacological effects.

Main scientific results

  • The molecular mechanisms of genomic alterations for a number of human diseases, including hemoglobinopathies, thalassemia, myodystrophy, torsion dystonia, Parkinson's, Wilson's and other disease was determined.
  • A family of hypervariable DNAs, which were universally distributed in the genomes of all living organisms was discovered, and such DNAs were found to be suitable for both the personal identification and kinship purposes.
  • A number of new brain-specific human genes were found and characterized. Circular RNAs of sphingomyelin synthase gene have been found and studied in human and rodent tissues. The results were obtained on the features of the formation of the structure and expression of circular RNA in adult and embryonic tissues.
  • A new scientific area – ethnic genomics was developed. In particularly, a new genetic branch, comprised of the populations from the extreme north-eastern Europe was found in the European gene pool, ten independent historical Y-chromosome lineages, making up the bulk of the modern European male gene pool were identified.
  • Genetic and ethnic related differences in the responses of cancer patients to chemotherapy treatment were revealed.
  • Wide-scale changes in the transcriptome of nerve cells after ischemia and under the action of peptide drugs were identified. The study revealed the neuroprotective properties of these peptides under ischemia conditions.


Major Publications since 2016

  1. Dergunova LV, Filippenkov IB, Limborska SA, Myasoedov NF // Pharmacotranscriptomics of peptide drugs with neuroprotective properties // Med Res Rev. 2020. doi: 10.1002/med.21704., IF  9,7911.
  2. Filippenkov IB, Dergunova LV, Limborska SA // The Role of Noncoding RNAs in Brain Cells during Rat Cerebral Ischemia // 2020, Chapter in the book «Non-Coding RNAs» ISBN 978-1-78985-656-9, OpenIntech, pp 83-98, DOI:     
  3. Dergunova LV, Nosova EV, Dmitrieva VG, Rozhkova AV, Bazaeva EV, Limborska SA, Dergunov AD. HDL cholesterol is associated with PBMC expression of genes involved in HDL metabolism and atherogenesis.  J Med Biochem. 2020 Sep 2;39(3):372-383. doi: 10.2478/jomb-2019-0052. PMID: 33269026 IF 2.0 (2018);
  4. Filippenkov IB, Stavchansky VV, Denisova AE, Yuzhakov VV, Sevan'kaeva LE, Sudarkina OYu, Dmitrieva VG, Gubsky LV, Myasoedov NF, Limborska SA, Dergunova LV // Novel Insights into the Protective Properties of ACTH(4-7)PGP (Semax) Peptide at the Transcriptome Level Following Cerebral Ischaemia–Reperfusion in Rats // Genes 2020, 11(6), 681;, IF 3.759
  5. Khvorykh GV, Mulyar OA, Fedorova L, Khrunin AV, Limborska SA, Fedorov A. Global Picture of Genetic Relatedness and the Evolution of Humankind. Biology (Basel). 2020 Nov 10;9(11):392. doi: 10.3390/biology9110392. PMID: 33182715
  6. Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium (… Khrunin A., Limborska S. …), Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA. Complement genes contribute sex-biased vulnerability in diverse disorders. Nature. 2020 Jun;582(7813):577-581. doi: 10.1038/s41586-020-2277-x. PMID: 32499649
  7. Khrunin AV, Khvorykh GV, Fedorov AN, Limborska SA. Genomic landscape of the signals of positive natural selection in populations of Northern Eurasia: A view from Northern Russia. PLoS One. 2020 Feb 5;15(2):e0228778. doi: 10.1371/journal.pone.0228778. eCollection 2020. PMID: 32023328
  8. Hess JL, Tylee DS, Mattheisen M; Schizophrenia Working Group of the Psychiatric Genomics Consortium (… Khrunin A., Limborska S. …); Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum AD, Als TD, Grove J, Werge T, Mortensen PB, Mors O, Nordentoft M, Hougaard DM, Byberg-Grauholm J, Bækvad-Hansen M, Greenwood TA, Tsuang MT, Curtis D, Steinberg S, Sigurdsson E, Stefánsson H, Stefánsson K, Edenberg HJ, Holmans P, Faraone SV, Glatt SJ.A polygenic resilience score moderates the genetic risk for schizophrenia. Mol Psychiatry. 2019 Sep 6:10.1038/s41380-019-0463-8. doi: 10.1038/s41380-019-0463-8. Online ahead of print. PMID: 31492941
  9. Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium (… Khrunin A., Limborska S. …); iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat Genet. 2019 Apr;51(4):659-674. doi: 10.1038/s41588-019-0364-4. PMID: 30911161
  10. Harold D, Connolly S, Riley BP, Kendler KS, McCarthy SE, McCombie WR, Richards A, Owen MJ, O'Donovan MC, Walters J; Wellcome Trust Case Control Consortium 2; Schizophrenia Working Group of the Psychiatric Genomics Consortium (… Khrunin A., Limborska S. …), Donohoe G, Gill M, Corvin A, Morris DW. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):223-231. doi: 10.1002/ajmg.b.32716. PMID: 30801977
  11. Limborska SA, Filippenkov IB. // Circular RNA as a prospective molecular tool for the study of neuroprotection in cerebral ischemia. Transl Cancer Res 2019;8(Suppl 2):S126-S129.doi: 10.21037/tcr.2018.12.03., Impact Factor 1.07. 
  12. Khrunin A, Moisseev A, Gorbunova V, Limborska S. Ethnic differences in susceptibility to the effects of platinum-based chemotherapy. In: Ovarian cancer. Devaja O, Papadopoulos AJ (Eds.). InTech - Open Access Company, 2018, p. 309-329.  DOI: 10.5772/intechopen.73798   
  13. Dergunova LV, Filippenkov IB, Stavchansky VV, Denisova AE, Yuzhakov VV, Mozerov SA, Gubsky LV, Limborska SA // Genome-wide transcriptome analysis using RNA-Seq reveals a large number of differentially expressed genes in a transient MCAO rat model // BMC Genomics. 2018;19(1):655. doi: 10.1186/s12864-018-5039-5
  14. Filippenkov IB, Kolomin TA, Limborska SA, Dergunova LV // Developmental stage-specific expression of genes for sphingomyelin synthase in rat brain // Cell Tissue Res., 2018, 372(1):33-40. DOI: 10.1007/s00441-017-2762-1.
  15. Filippenkov IB, Sudarkina OY, Limborska SA, Dergunova LV // Multi-step splicing of sphingomyelin synthase linear and circular RNAs // Gene. 2018, 654:14-22. doi: 10.1016/j.gene.2018.02.030.
  16. Ruderfer DM, Ripke S, McQuillin A, Boocock J, Stahl EA, Pavlides JMW, Mullins N, Charney AW, … Khrunin AV, … Limborska SA, … Slominsky PA, … Nurnberger JI, Andreassen OA, Lee SH, O'Donovan MC, Sullivan PF, Ophoff RA, Wray NR, Sklar P, Kendler KS. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.
  17. Ni G, Moser G, … Khrunin AV, … Limborska SA, … Slominsky PA, … Wray NR, Lee SH. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021.
  18. Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, … Khrunin AV, … Limborska SA, … Slominsky PA, … Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R. Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.
  19. Ni G, Gratten J, Wray NR, Lee SH, … Khrunin AV, … Limborska SA, … Slominsky PA, … Weinberger DR, Wendland JR, Werge T, Daly MJ, Sullivan PF, O'Donovan MC. Age at first birth in women is genetically associated with increased risk of schizophrenia. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.
  20. Krûmina A, Pliss L, Zarina G, Puzuka A, Zarina A, Lace B, Elferts D, Khrunin A, Limborska S, Klovins J, Gailîte (Piekuse) L. Population Genetics of Latvians in the Context of Admixture between North-Eastern European Ethnic Groups. Proc. Latvian Acad. Sci., Section B. 2018;72(3):131-151. doi: 10.2478/prolas-2018-0025
  21. Filippenkov IB, Kalinichenko EO, Limborska SA, Dergunova LV // Circular RNAs-one of the enigmas of the brain // Neurogenetics, 2017, 18(1):1-6. doi: 10.1007/s10048-016-0490-4,
  22. Filatova E., Kasian A., Kolomin T., Rybakina E., Alieva A., Andreeva L., Limborska S., Myasoedov N., Pavlova G., Slominsky P., Shadrina M. // GABA, Selank and Olazapine Affect the Expression of Genes Involved in GABAergic Neurotrasmission in IMR-32 Cells/ Front Pharmacol. 2017.Feb.28.8.89. doi: 10,3389/fpar. 2017.00089. eCollection 2017
  23. Shulskaya MV, Shadrina MI, Fedotova EY, Abramycheva NY, Limborska SA, Illarioshkin SN, Slominsky PA. // Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene./Int J Neurosci. 2017 Sep;127(9):781-784. doi: 10.1080/00207454. 2016. 12556 12
  24. Medvedeva EV, Dmitrieva VG, Limborska SA, Myasoedov NF, Dergunova LV. Semax, an analog of ACTH(4-7), regulates expression of immune response genes during ischemic brain injury in rats. Mol Genet Genomics. 2017 Jun;292(3):635-653. doi: 10.1007/s00438-017-1297-1. Epub 2017 Mar 2.
  25. Wong EH, Khrunin A, Nichols L, Pushkarev D, Khokhrin D, Verbenko D, Evgrafov O, Knowles J, Novembre J, Limborska S, Valouev A. Reconstructing genetic history of Siberian and Northeastern European populations. Genome Res. 2017 Jan;27(1):1-14. doi: 10.1101/gr.202945.115.
  26. McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, … Khrunin AV, … Limborska SA, … Slominsky PA, … Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.
  27. Stavusis J, Inashkina I, Lace B, Pelnena D, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M, Erenpreiss J. A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene. Hum Hered. 2016;82(3-4):140-146. doi: 10.1159/000481434. Epub 2017 Nov 2.
  28. Khrunin AV, Filippova IN, Aliev AM, Tupitsina TV, Slominsky PA, Limborska SA. GSTM1 copy number variation in the context of single nucleotide polymorphisms in the human GSTM cluster. Mol Cytogenet. 2016;9:30.
  29. Shadrina MI, Shulskaya MV, Klyushnikov SA, Nikopensius T, Nelis M, Kivistik PA, Komar AA, Limborska SA, Illarioshkin SN, Slominsky PA. ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. Cerebellum Ataxias. 2016 Jan 13;3:2. doi: 10.1186/s40673-016-0040-8. eCollection 2016.
  30. Divya Mehta; Felix C Tropf; Jacob Gratten; Andrew Bakshi; Zhihong Zhu; Silviu-Alin Bacanu; Gibran Hemani; S Hong Lee;…; Khrunin, A; … ; Limborska, S; …Slominsky, P…; LifeLines Cohort Study; TwinsUK. Evidence for genetic overlap between schizophrenia and age at first birth in women. Jama Pchychiatry, 2016.