Dottoressa di ricerca

ciclo: XXXVI

relatore: Fulvio Cruciani

Titolo della tesi: A comprehensive picture of the genomic history of Iran

Iran, a country with a population of around 85 million people, has a diverse composition of ethnicities, tribes and religions. This complicated social structure provides genetic researchers with a uniquely heterogeneous gene pool and a wealth of genetic variants. The preservation of different ethnic groups within the country has been particularly supported by geographical boundaries and a long-standing cultural tradition favouring intra-family marriages, which has contributed to the formation of an exceptionally diverse population. Present-day Iran is characterised by significant ethnic and linguistic diversity, encompassing over ten distinct ethnic groups and three language families: Indo-European, Afro-Asiatic and Turkic, which are believed to have been introduced into the region in the 3rd millennium BCE, 7th century AD and 9th century AD, respectively. Ancient genome studies revealed that Iran has played a central role in the history of Eurasia being one of the three major centres of agriculture invention and cattle domestication in the Fertile Crescent. While an “Iranian Neolithic component” is currently recognized in most of Eurasia as a consequence of past migrations, the genetic diversity of contemporary Iranians, especially at the whole genome sequencing (WGS) level, has been poorly studied. To paint a more comprehensive picture of the genomic diversity and history of the Iranian populations, we conducted a novel WGS study (depth > 30×) of 87 males spanning 11 different populations and 3 language families (Indo-European, Afro-Asiatic and Turkic). After merging our WGS data with the relevant available modern and ancient genomes, and considering Y chromosome and mitogenome diversity, we have found that all present-day Iranians, regardless of ethnicity, have two major genomic components: a predominantly pre-Neolithic Iranian autochthonous ancestry and a significant (although variable) ancestry from the Near East/Anatolia introduced into Iran since the Late Neolithic. The genomic impact of Bronze Age western Steppe pastoralists is also clearly detectable since 4,000 years ago and is evident in all the present-day ethnicities, although its association with the introduction of the Indo-European languages in Iran remains disputed. Despite sharing these three major genomic ancestries, different Iranian ethnic groups also showed striking differences due to varying gene flow from sub-Saharan Africa (in Arabs and Southern Iranians), Central/Eastern Asia (mainly in Iranian Turkic-speakers Turkmen, Qashqai and Azeri as well as in North-Eastern Persian), and South Asia (in Indo-European speakers of southern Iran). Uniparental marker diversity supported autosomal inferences, but also revealed that gene flow from Africa into Iranian Arabs (but not into southern Persian) was sex-biased, possibly due to past female slave trade. Our results not only shed light on the differential history of Iranian ethnicities, but also may have biomedical implications. Our study produced the first large scale and ethnicity-aware collection of Iranian complete genomes, which will be made publicly available to the scientific community contributing to fill a gap in the scarce Middle East representation in variome world-wide collections. This would allow the creation of a population-specific reference genome that could increase imputation accuracy in SNP-based genome-wide association studies as well as gene identification in family studies.

Produzione scientifica

11573/1693293 - 2023 - The genomic echoes of the last Green Sahara on the Fulani and Sahelian people
D'atanasio, Eugenia; Risi, Flavia; Ravasini, Francesco; Montinaro, Francesco; Hajiesmaeil, Mogge; Bonucci, Biancamaria; Pistacchia, Letizia; Amoako-Sakyi, Daniel; Bonito, Maria; Onidi, Sara; Colombo, Giulia; Semino, Ornella; Destro Bisol, Giovanni; Anagnostou, Paolo; Metspalu, Mait; Tambets, Kristiina; Trombetta, Beniamino; Cruciani, Fulvio - 01a Articolo in rivista
rivista: CURRENT BIOLOGY (Current Biology Limited:84 Theobalds Road, London WC1X 8RR United Kingdom:011 44 20 76114202, EMAIL:, INTERNET:, Fax: 011 44 20 76114479) pp. - - issn: 0960-9822 - wos: WOS:001141295800001 (0) - scopus: (0)

11573/1686717 - 2023 - High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis
Hajiesmaeil, Mogge; Ravasini, Francesco; Risi, Flavia; Magnarini, Giorgia; Olivieri, Anna; D'atanasio, Eugenia; Galehdari, Hamid; Trombetta, Beniamino; Cruciani, Fulvio - 01a Articolo in rivista
rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:001124173100028 (0) - scopus: 2-s2.0-85165395523 (1)

11573/1652396 - 2022 - Improving discrimination capacity through rapidly mutating Y-{STRs} in structured populations from the African continent
Della Rocca, Chiara; Trombetta, Beniamino; Barni, Filippo; D'atanasio, Eugenia; Hajiesmaeil, Mogge; Berti, Andrea; Hadi, Sibte; Cruciani, Fulvio - 01a Articolo in rivista
rivista: FORENSIC SCIENCE INTERNATIONAL: GENETICS (Elsevier) pp. - - issn: 1872-4973 - wos: WOS:000857116300006 (3) - scopus: 2-s2.0-85135902590 (3)

11573/1651045 - 2022 - Interactions of Colorectal Cancer, Dietary Fats, and Polymorphisms of Arachidonate Lipoxygenase and Cyclooxygenase Genes: A Literature Review
Gholamalizadeh, Maryam; Majidi, Nazanin; Tajaddod, Shirin; Abdollahi, Sepideh; Poorhosseini, Seyed Mohammad; Ahmadzadeh, Mina; Naimi Joubani, Mohammad; Mirzaei Dahka, Samaneh; Shafaei, Hanieh; Hajiesmaeil, Mogge; Alizadeh, Atiyeh; Doaei, Saeid; Houshiar-Rad, Anahita - 01a Articolo in rivista
rivista: FRONTIERS IN ONCOLOGY (Lausanne : Frontiers Editorial Office, 2011-) pp. - - issn: 2234-943X - wos: WOS:000834664400001 (2) - scopus: 2-s2.0-85135238853 (3)

11573/1650552 - 2022 - The association between dietary intake and cervical cancer in women at risk of cervical cancer; a nested case-control study
Hajiesmaeil, Mogge; Mirzaei Dahka, Samaneh; Khorrami, Ruin; Rastgoo, Samira; Bourbour, Fatemeh; Hossein Davoodi, Sayed; Shafiee, Fatemeh; Gholamalizadeh, Maryam; Abbas Torki, Saheb; Esmail Akbari, Mohammad; Doaei, Saeid - 01a Articolo in rivista
rivista: CASPIAN JOURNAL OF INTERNAL MEDICINE (Babol: Babol University of Medical Sciences, 2010.) pp. 599-606 - issn: 2008-6164 - wos: WOS:000822779100017 (1) - scopus: 2-s2.0-85140214201 (1)

11573/1616550 - 2022 - A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis
Hajiesmaeil, Mogge; Yazarlou, Fatemeh; Sobhani, Maryam; Ghafouri-Fard, Soudeh - 02a Capitolo o Articolo
libro: The Neurobiology, Physiology, and Psychology of Pain - (9780128205891)

11573/1549732 - 2019 - Polymorphisms in Genes Coding for Folate-Related Enzymes and Colorectal Cancer
Gholamalizadeh, M.; Doaei, S.; Shahvegharasl, Z.; Hajiesmaeil, M.; Aminifard, A.; Mosavi-Jarrahi, A.; Mohammad, E. A.; Mirzaei Dahka, S. - 01a Articolo in rivista
rivista: NUTRITION TODAY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL:, INTERNET:, Fax: (301)223-2320, (301)223-2320) pp. 229-234 - issn: 0029-666X - wos: (0) - scopus: 2-s2.0-85077544409 (1)

11573/1549715 - 2019 - A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis
Hajiesmaeil, Mogge; Yazarlou, Fatemeh; Sobhani, Maryam; Ghafouri-Fard, Soudeh - 01a Articolo in rivista
rivista: META GENE () pp. - - issn: 2214-5400 - wos: WOS:000466713600002 (0) - scopus: 2-s2.0-85061624394 (1)

11573/1549722 - 2018 - Effects of gene polymorphisms of metabolic enzymes on the association between red and processed meat consumption and the development of colon cancer; a literature review
Doaei, S.; Hajiesmaeil, M.; Aminifard, A.; Mosavi-Jarrahi, S. A.; Akbari, M. E.; Gholamalizadeh, M. - 01g Articolo di rassegna (Review)
rivista: JOURNAL OF NUTRITIONAL SCIENCE (Cambridge : Cambridge University Press, 2012-) pp. 1-7 - issn: 2048-6790 - wos: WOS:000450873300001 (18) - scopus: 2-s2.0-85055044328 (27)

11573/1549734 - 2016 - The effect of methylenetetrahydrofolate reductase polymorphisms on susceptibility to human papilloma virus infection and cervical cancer
Hajiesmaeil, Mogge; Tafvizi, Farzaneh; Sarmadi, Soheila - 01a Articolo in rivista
rivista: INFECTION GENETICS AND EVOLUTION (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL:, INTERNET:, Fax: 011 31 20 4853598) pp. 1-6 - issn: 1567-1348 - wos: WOS:000390456000001 (14) - scopus: 2-s2.0-84992520859 (17)

11573/1682325 - 2014 - Recurrent pregnancy loss in a subject with heterozygote factor V Leiden mutation; a case report
Ebrahimzadeh-Vesal, Reza; Azam, Roza; Ghazarian, Arvin; Hajiesmaeil, Mogge; Ranji, Najmeh; Reza Ezzati, Mohammad; Sadri, Mehrdad; Ali Mohammadi, Mohammad; Khavandi, Siamak - 01a Articolo in rivista
rivista: REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY (Mashhad: Varastegan Institute for Medical Sciences) pp. 98-102 - issn: 2322-3480 - wos: (0) - scopus: (0)

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