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Prof. Aslı Tolun, Ph.D.

 

 

 

 

 

 

                                                                   Address: Ä°TÜ Dept. of Molecular Biology and Genetics

                                                                   ORCID: 0000-0002-0328-6046

                                                                   Phone: +90 212 285 7248

                                                                   E-mail: tolunasli@itu.edu.tr

 

 

Education and Work Experience

Guest Professor Department of Molecular Biology and Genetics, Istanbul Technical University, 2019-
Chair Department of Molecular Biology and Genetics, BoÄŸaziçi University, 1996-2002
Prof. Department of Molecular Biology and Genetics, BoÄŸaziçi University, 1989-2019
Assoc. Prof. Biology Department (currently Department of Molecular Biology and Genetics), BoÄŸaziçi University, 1984-89
Assist. Prof. Biology Department, BoÄŸaziçi University, Istanbul, Turkey, 1982-84
Postdoctoral Fellow Biology Department, University of California San Diego, 1979-82
Ph.D. Scientific microbiology, Uppsala University, Uppsala, Sweden, 1973-79
MS. Biophysics, Pennsylvania State University, 1971-3
BS. Physics, Robert College (currently BoÄŸaziçi University – Istanbul), 1967-71

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Research Area

The research area of my team is identification of novel human disease genes. We have studied several families afflicted with different diseases, ranging from neurological disorders and skeletal malformations to eye diseases and male infertility. A new gene function identified sheds light on the related cellular mechanism. The most certain route to the identification of the function of a gene is via clinically investigating affected individuals with defects in that particular gene. Because experiments on humans cannot be performed, molecular genetic studies are performed instead. In a large family where parents are related, genetic research aims to find the answer to the question “which gene is defective in patients so that such a novel disease has developed?” In the search for the gene mutation that underlies a novel disease in a family, we first identifiy the chromosomal localization of the disease gene, and then evaluate the sequence of patient’s exome (protein coding regions of the genome) via bioinformatics tools and perform the necessary genetic analyses.
The first disease gene we identified was for pulmonary alveolar microlithiasis. Tiny stones form in lung alveoli and grow to finally lead to severe damage. It was known that the disease was more frequent in our country than in western populations, and the underlying cause was believed to be a yet unidentified environmental factor. We found that mutations in gene SLC34A2 underlie the disease and thus showed that the basis of the disease was completely genetic and due to parental consanguinity. In a family afflicted with split hand/foot malformation, we identified the gene responsible for the condition and showed that inheritance of the trait was complex. Among the other genes we identified are some that are responsible for childhood Parkinson or brain development.

Additionally, we have some work on population genetics to understand the relation of our population to other populations and to uncover ancient migration routes.

 

Fellowships

  1. Teaching assistantship in Physics, Robert College, 1970-71

  2. Teaching assistantship in Biophysics, Penn State, 1971-72

  3. Swedish Institute guest scholarship, 1973-76

  4. Uppsala University graduate study fellowship, 1976-78

  5. Damon Runyon-Walter Winchell Cancer Research Fund, 1979-81

  6. Rockefeller Biotechnology Career Fellowship, 1986-89.

 

Awards

  1. Scientific and Technical Research Council of Turkey (TUBITAK): junior researcher award, 1984

  2. BoÄŸaziçi University Senior Researcher Award, 1999 and 2011

  3. METU Prof. Mustafa N. Parlar Education and Research Foundation Honor Award 2020.

 

Memberships

  1. Academy of Sciences of Turkey - TÜBA (1996 – resigned November 2011)

  2. Science Academy (Dec 2011 – January 2013)

  3. Muscular Dystrophy Association of Turkey

  4. European Molecular Biology Organisation (EMBO) (2017).

 

Other Academic Activities

  1. Council member of the Turkish Academy of Sciences (5.1999-6.2000, 4.2003-11.2005, 6.2007-6.11)

  2. Member of TUBITAK Basic Sciences Research Group (8.2004 – 4.2005)

  3. BoÄŸaziçi University Committee on Research with Human Participants, founding chair (2003 – 2006)

  4. Academic Advisor for BoÄŸaziçi University Student Science Club (1983 – 2012)

  5. L'Oreal Türkiye Women in Science National Program founding chair (2001-2012)

  6. BU representative in the Istanbul Governor’s Human Rights Council (2005 – 2016)

  7. BU member of Honorary Academic Titles and Service Council (2014- 2016).

 

Book

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                                           Genetics for Everyone (In Turkish). Istanbul Technical University Foundation, 2023 

      

 

 

Publications

  1. Naqvi SF, Yıldız-Bölükbaşı E, Afzal M, Nalbant G, Mumtaz S, Tolun A, Malik S. Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma. Yale J Biol Med. 2023 Sep 29;96(3):347-365.

  2. Koprulu M, Shabbir RMK, Mumtaz S, Tolun A, Malik S. Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias. Yale J Biol Med. 2023 Sep 29;96(3):367-382.

  3. Shabbir RMK, Nalbant G, Zaman Q, Tolun A, Malik S, Mumtaz S. A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family. Yale J Biol Med. 2023 Sep 29;96(3):313-325.

  4. Koprulu M, Naeem M, Nalbant G, Shabbir RMK, Mahmood T, Huma Z, Malik S, Tolun A. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies. Eur J Hum Genet. 2022 Nov;30(11):1292-1296.

  5. Naqvi SF, Shabbir RMK, Tolun A, Basit S, Malik S. A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family. Genet Test Mol Biomarkers. 2022 Jan; 26(1):37-42.

  6. Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. EMBO J. 2022 Dec 17;41(2): e105531.

  7. Malik S, Nalbant G, Noreen M, Afzal M, Tolun A. A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods. Am J Med Genet A. 2022 Jan;188(1):343-349.

  8. Koprulu M, Kumare A, Bibi A, Malik S, Tolun A. The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1. Am J Med Genet A. 2021 Jun;185(6):1858-1863.

  9. Koprulu M, Shabbir RMK, Zaman Q, Nalbant G, Malik S, Tolun A. CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies. Eur J Med Genet. 2021 Apr; 64(4):104181.

  10. Yıldız Bölükbaşı E, Shabbir RMK, Malik S, Tolun A. Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. J Hum Genet. 2021 Feb;66(2):171-179.

  11. Zahra Q, Çakmak Ç, Koprulu M, Shuaib M, Sobreira N, Kalsner L, Sobreira J, Guillen Sacoto MJ, Malik S, Tolun A. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. J Hum Genet. 2020 Dec;65(12):1115-1123.

  12. Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Novel EDAR mutation in tooth agenesis and variable associated features. Eur J Med Genet. 2020 Sep;63(9):103926.

  13. MavioÄŸlu RN, Kara B, Akansel G, Nalbant G, Tolun A. FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. Clin Genet. 2019 Nov;96(5):456-460.

  14. Karacan Ä°, Diz Küçükkaya R, KarakuÅŸ FN, SolakoÄŸlu S, Tolun A, Hançer VS, Turanlı ET. A novel ATP6V0A2 mutation causing recessive cutis laxa with unusual manifestations of bleeding diathesis and defective wound healing. Turk J Haematol. 2019 Feb 7;36(1):29-36.

  15. Turkgenc B, Sanlidag B, Eker A, Giray A, Kutuk O, Yakicier C, Tolun A, Temel SG. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Hum Mutat. 2018 Oct;39(10):1344-1348.

  16. Karacan I, UÄŸurlu S, Åžahin S, Everest E, Kasapçopur Ö, Tolun A, ÖzdoÄŸan H, Turanli ET. LACC1 Gene Defects in Familial Form of Juvenile Arthritis. J Rheumatol. 2018;45(5):726-728.

  17. Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet. 2018 Jun;26(6):876-885.

  18. Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. J Med Genet. 2018 Jul;55(7):489-496.

  19. Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Ketudat Cairns JR. WNT10B mutations associated with isolated dental anomalies. Clin Genet. 2018 May;93(5):992-999.

  20. Karacan İ, Uğurlu S, Tolun A, Tahir Turanlı E, Ozdogan H. Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):75-81.

  21. Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. J Med Genet. 2018 Mar;55(3):189-197.

  22. Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A (2017) Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. Am J Med Genet A. 173A:2494–2499.

  23. Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S (2017). Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. Eur J Med Genet. 60:268-274.

  24. Kara B, KöroÄŸlu Ç, Peltonen K, Steinberg RC, MaraÅŸ Genç H, Hölttä-Vuori M, Güven A, Kanerva K, Kotil T, SolakoÄŸlu S, Zhou Y, Olkkonen VM, Ikonen E, Laiho M, Tolun A (2017). Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. Eur J Hum Genet. 25:315-323.

  25. DurmuÅŸ H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, SerdaroÄŸlu-Oflazer P (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology 87:799-805.

  26. Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features (2017). Neurology 87:77-85.

  27. Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ (2016). A role of autophagy in spinocerebellar ataxia-rare exception or general principle? Autophagy. 22:0.

  28. Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M (2016). Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. Elife. 26;5.

  29. Seven M, Güven A, BozoÄŸlu TM, Tolun A. Detecting PORCN microdeletions in a large family with focal dermal hypoplasia (2015). Genet Couns. 26:195-204.

  30. Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S (2015). RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 167:3148-52.

  31. Batini C, Hallast P, Zadik D, Delser PM, Benazzo A, Ghirotto S, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Dupuy BM, Eriksen HA, King TE, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Tolun A, Winney B, Jobling MA (2015). Large-scale recent expansion of European patrilineages shown by population resequencing. Nat Commun. 19;6:7152.

  32. Yüceyar N, Ayhan Ö, Karasoy H, Tolun A (2015). Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscul Disord. 25:340-4.

  33. Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Destro Bisol G, Dupuy BM, Eriksen HA, Jorde LB, King TE, Larmuseau MH, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Schempp W, Sears M, Tolun A, Tyler-Smith C, Van Geystelen A, Watkins S, Winney B, Jobling MA (2015). The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades. Mol Biol Evol. 32:661-73.

  34. Durlu YK, KöroÄŸlu Ç, Tolun A (2014). Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol. 132:1185-91.

  35. Erken E, KöroÄŸlu Ç, Yıldız F, Özer HT, Gülek B, Tolun A (2015). A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. Mod Rheumatol. 25:315-21.

  36. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG (2014). Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 31;343:506-11.

  37. Kara B, Ayhan O, Gökçay G, BaÅŸboÄŸa N, Tolun A (2014). Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC Med Genet.15(1):10.

  38. Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A (2014). Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. J Med Genet. 51:239-44.

  39. Yıldırım Y, Kerem M, KöroÄŸlu C, Tolun A (2014). A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family. Eur J Hum Genet. 22, 333–337

  40. Eren Erken, ÇiÄŸdem Köroglu, Fatih Yıldız, Hüseyin T. E. Özer, Bozkurt Gülek, Aslıhan Tolun (2013). A novel recessive 15-hydroxyprostaglandin dehydrogenase 3 mutation in a family with primary hypertrophic osteoarthropathy. Mod Rheumatol. 25:315-521

  41. ÇiÄŸdem KöroÄŸlu, Mehmet Seven, Aslıhan Tolun (2013). Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 50(8):515-20.

  42. Guven A, Tolun A (2013). TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet. 50(3):199-202.

  43. KöroÄŸlu C, Baysal L, Cetinkaya M, Karasoy H, Tolun A (2013). DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord. 19(3):320-4

  44. Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A (2012). Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics, 13:189–194.

  45. Ebba Lohmann, ÇiÄŸdem KöroÄŸlu, Hasmet A. Hanagasi, Burcu Dursun, ErÅŸan TaÅŸan, Aslıhan Tolun (2012). A Homozygous Frameshift Mutation of Sepiapterin Reductase Gene causing Parkinsonism with Onset in Childhood. Parkinsonism & Related Disorders, 18, 191-193.

  46. Yildirim Y, Kocasoy Orhan E, Ugur Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoglu S, Tolun A. (2011). A Frameshift Mutation of ERLIN2 in Recessive Intellectual Disability, Motor Dysfunction and Multiple Joint Contractures. Hum Mol Genet. 20(10):1886-92.

  47. Yildirim Y, Tolun A, Tüysüz B. (2011). The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am J Med Genet A. 155, 134-40.

  48. Jana Behunova, Eva Zavadilikova, Tarik M. Bozoglu, Aysegul Gunduz, Aslihan Tolun, Cengiz Yalcinkaya (2010). Familial Microhydranencephaly, a family that does not map to 16p13.13-12.2: hereditary fetal brain degeneration and fetal brain disruption sequence. Clin Dysmorphol. 19(3):107-18.

  49. Sedjaï F, Acquaviva C, Chevrier V, Chauvin JP, Coppin E, Aouane A, Coulier F, Tolun A, Pierres M, Birnbaum D, Rosnet O. (2010). Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein. Journal of Cell Science 123 (Pt 14):2391-401.

  50. Ugur Iseri SA, Durlu YK, Tolun A. (2010) A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber’s congenital amaurosis. Eur J Hum Genet. 18, 1121–1126.

  51. Duru N, Ugur Iseri SA, Selçuk N, Tolun A (2010) Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. J Neurogenet. 24, 207-15.

  52. Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A (2009). Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 10(4):325-31.

  53. Ugur SA, Tolun A (2008) Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. Hum Mol Genet. 1;17(17):2644-53.

  54. Ugur SA, Tolun A (2008). A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet 16: 261-264.

  55. Kabakus N, Aydin M, Ugur SA, Durukan M, Tolun A (2008). Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus. Pediatr Int 50(5):703-5.

  56. Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A (2006). Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. Am J Hum Genet 79: 650-656. (Tam makale, article).

  57. Sönmez FM, Celep F, UÄŸur SA & Tolun A (2006). Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family. J Child Neurology 21 (4): 333-337.

  58. Suna Önengüt, Sibel UÄŸur, Hatice Karasoy, Nuran Yüceyar, Aslıhan Tolun (2004). Identification of a Locus for an Autosomal Recessive Hyaline Body Myopathy at Chromosome 3p23-p21. Neuromuscular Diseases 14:4-9.

  59. Kılınç MO, Ninis VN, UÄŸur SA, Tüysüz B, Seven M, Balcı S, Goodship J, Tolun A (2003). Is the novel SCKL3 at 14q23 a Predominant Seckel Locus? Eur J Hum Genet 11:851-857.

  60. Vasiliki Ninidu Ninis, Okyay Kilinç, Murat Kandemir, Elif Dagli, Aslihan Tolun. High Frequency of 9T and CFTR Mutations in Children with Idiopathic Bronchiectasis. J Med Genet 40:530-536. Geri çekildi.

  61. Kilinç MO, Ninis VN, Dagli E, Demirkol M, Özkinay F, Arikan Z, Çogulu Ö, Hüner G, Karakoç F, Tolun A (2002). Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of alleles in Turkish patients. Amer J Med Genet, 113:250-257.

  62. Baris I, Kilinc MO, Tolun A (2001). Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet 60, 452-455.

  63. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HBSM, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PJ, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith R, Jobling MA (2000). Y-chromosomal diversity within Europe is clinal and influenced primarily by geography rather than language. Am J Hum Genet 67:1526-1543.

  64. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa, Pisano M, Fortina P, Zelante L, Estivill X and the Genetic Analysis Consortium of GJB2 35delG (2000). High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 8, 19-23.

  65. Kasvaslar GN, Önengüt S, Derman O, Kaya A, Tolun A (2000). A novel genetic disorder Micro- Hydranencephaly Maps to Chromosome 16p13.13-12.1. Am J Hum Genet 65, 1705-1709.

  66. Önengüt S, Kavaslar GN, Battaloglu E, Serdaroglu P, Deymeer F, Özdemir C, Calafell F, Tolun A (2000). Deletion pattern in the dystrophin gene in Turks and comparison to Europeans and Indians.Annals of Human Genetics 64, 33-40.

  67. Kilinç O, Ninis V, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Özkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I (2000). Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA->G demonstrates a severe phenotype for the mutation. J Med Genet 37, 307-309.

  68. Teraoka SN, Telatar M, Becker-Catania S, Liang T, Önengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P (1999). Splicing defects in the Ataxia-Telangiectasia gene ATM: underlying mutations and consequences Am J Hum Genet 64, 1617.

  69. Oktay S, Cabadak H, Iskender E, Goren Z, Caliskan E, Orun O, Aslan N, Karaalp A, Tolun A, Ulusoy NB, Levey AI, El-Fakahany EE, Kan B (1998). Evidence for the Presence of Muscarinic M2 and M4 receptors in Guinea-pig Gallbladder Smooth Muscle. J Auton Pharm 18, 194-204.

  70. Wright J, Teraoka S, Önengüt S, Tolun A, Gatti RA, Ochs HD, Concannon P (1996). A High Frequency of Distinct ATM Gene Mutations in Ataxia-Telangiectasia. Am J Hum Genet 59:839-946.

  71. Calafel F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L. (1996). From Asia to Europe: Mitochondrial DNA Sequence Variability in Bulgarians and Turks. Am Hum Genet 60, 35-49.

  72. Lange E, Borresen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liagn T, McConville C, Polakow J, Porras, Rotman G, Sanal Ö, Seikhavandi S, Shiloh Y, Sobel E, Taylor M, Telatar M, Teraoka S, Tolun A, Udar N, Uhrhammer N, Vanagaite L, Wang Z, Wapelhorst B, Yang HM, Yang L, Ziv Y, and Gatti RA (1995). Localization of an ataxia-telangiectasia gene to a 500 kb interval on chromosome 11p23.1: linkage analysis of 176 families by an international consortium. Am Hum Genet 57, 112-119.

  73. Kavaslar GN, Telatar M, Serdaroglu P, Deymeer F, Özdemir C and Tolun A. (1995) Identification of a one base pair deletion in exon 6 of the dysdystrophin gene. Human Mutation 6, 85-86.

  74. Telatar M, Concannon P and Tolun A (1994). Dinucleotide repeat polymorphism at the NCAM locus. Hum Mol Genet 3, 842.

  75. Telatar M, Concannon P and Tolun A (1994) Dinucleotide repeat polymorphism at 11q23. Hum Genet 94, 109.

  76. Angelicheva D, Boteva K, Jordanova A, Savov A, Kufardjieva A, Tolun A, Telatar M, Akarsubasi A, Köprübasi F, Aydogdu S, Demirkol M, Kurdoglu G, Constantinou-Deltas CD, Georgiou C, Dean M, Ivaschenko T, Baranov V and Kalaydjieva L (1994). Cystic Fibrosis Patients From The Black Sea Region: The 1677delTA Mutations. Human Mutation 3, 353-357.

  77. Sanal Ö, Lange E, Telatar M, Sobel E, Salazar-Novak J, Ersoy F, Concannon P, Tolun A and Gatti RA (1992). Ataxia-Telangiectasia: Linkage analysis of chromosome 11q23 markers in Turkish families. FASEB J 6, 2848.

  78. Battaloglu E, Telatar M, Deymeer F, Serdaroglu P, Kuseyri F, Özdemir C, Yüksel Apak M and Tolun A (1992). DNA analysis in Turkish Duchenne/Becker muscular dystrophy families. Hum Genet 89, 635-639.

  79. Basak AN, Özçelik H, Özer A, Tolun A, Aksoy M, Ridolfi F, Ulukutlu L, Akar N, Gürgey A and Kirdar B (1992). The Molecular Basis of B-Thalassemia in Turkey. Hum Genet 89, 315-318.

  80. Battaloglu E, Telatar M, Deymeer F, Serdaroglu P, Özdemir C, Kuseyri F, Yüksel-Apak M and Tolun A (1992). Carrier detection by DNA analysis in Duchenne muscular dystrophy families. Turkish J Pediat 34, 79-92.

  81. Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa L, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor AMR, Shiloh Y, Lange K and Gatti RA (1991). Localization of an Ataxia-Telangiectasia Locus to a 3-cM Interval on Chromosome 11q23: Linkage Analysis of 111 Families by an International Consortium. Am Hum Genet 49, 1263-1279.

  82. Hugnot JP, Récan D, Jeanpierre M, Kaplan JC and Tolun A (1991). A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD). Nucl Acids Res 19, 3159.

  83. Goonewardena P, Gustavson KH, Holmgren G, Tolun A, Chotai J Johnsen E and Pettersson U (1986). Analysis of Fragile X-Mental Retardation Families Using Flanking Polymorphic DNA Probes. Clinical Genetics 30, 249-254.

  84. Tolun A, Helinski DR (1982). Separation of the minimal replication region of the F plasmid into a replication origin segment and a trans-acting segment. Mol Gen Genet 86(3):372-7.

  85. Tolun A, Helinski DR (1981). Direct repeats of the F plasmid incC region express F incompatibility. Cell 24(3):687-94.

  86. Persson H, Perricaudet M, Tolun A, Philipson A and Pettersson U (1979). Purification of RNA-DNA Hybrids by Exclusion Chromatography. Journal of Bacterial Chemistry 254, 7999-8003.

  87. Tolun A, Aleström P and Pettersson U (1979). Sequence of Inverted Terminal Repetitions from Different Adenoviruses: Demonstration of Conserved Sequences and Homology Between Sa7 Termini and SV40 DNA. Cell 17, 705-713.

  88. Weingartner B, Winnacker EL, Tolun A and Pettersson U (1976). Two Complementary Strand-specific Termination Sites for Adenovirus DNA Replication. Cell 9, 259-268.

  89. Sussenbach JS, Tolun A and Pettersson U (1976). Nature of the Single Stranded DNA in Replicating Adenovirus type 5 DNA. Journal of Virology 20, 532-534.

  90. Tolun A and Pettersson U (1975). Termination Sites for Adeno- virus type 2 DNA Replication. Journal of Virology 16, 759-766.

  91. Tolun A, Christensen R and Pollard EC (1974). Repair of Radiation induced Strand Breaks as Related to the Inducible Inhibitor of Postirradiation DNA Degradation. Biophysical Journal 14, 691-696.

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