Paternal genetic heritage of Croatia in the european context – Y chromosome analysis of the population of croatian mainland and islands

doctoral thesis

• Title (croatian): Očinsko genetičko nasljeđe Hrvatske u širem europskom kontekstu – analiza kromosoma Y stanovnika hrvatskog kopna i otoka
• Author: Jelena Šarac
• Mentor: Pavao Rudan (mentor)
• Committee member: Marijana Peričić Salihović (predsjednik povjerenstva)
• Committee member: Mirjana Pavlica (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology
• Universal decimal classification (UDC): 576 - Cellular and subcellular biology. Cytology

Abstract

Filogenetska i filogeografska analiza bialelnih i mikrosatelitnih biljega kromosoma Y u visokoj rezoluciji provedena je na uzorcima 720 ispitanika iz četiri kontinentalne i osam otočnih subpopulacija Hrvatske. Dobiveni rezultati su zatim stavljeni u širi europski kontekst usporedbom sa bazama podataka iz drugih europskih populacija. U ukupnom je uzorku utvrđen visok stupanj genetičke raznolikosti i prisutnost svih tipičnih europskih haplogroupa s uobičajenim obrascima širenja za ovo područje. No na razini pojedinih subpopulacija su zamijećene razlike u frekvenciji određenih haplogrupa zbog utjecaja evolucijskih sila. Tri najčešće haplogrupe su bile u središtu interesa ove studije. Analize dominantne i autohtone I2a2-M423 linije (>30%) potvrđuju pretpostavku o postojanju Balkanskog refugijuma u vrijeme paleolitika na ovom području, linija R1a1a1c*-M558 (19%) predstavlja signal iz područja Europe čije stanovništvo govori slavenskim jezicima u populaciji Hrvatske, a filogeografija E1b1b1a2-V13 haplogrupe (9%) upućuje na obrazac kulturalne difuzije zemljoradnje u Europi.

Abstract (english)

A high-resolution phylogenetic and phylogeographic analysis of SNPs and STRs on the Y chromosome was performed on 720 samples from four continental and eight insular Croatian subpopulations. The obtained results were then placed in a wider European context by comparing them with a large dataset from other European populations. A high diversity of haplogroups was observed in the overall sample, and all typical European Y chromosome haplogroups with corresponding clinal patterns were observed. However, the frequencies of certain haplogroups differed significantly across some subpopulations due to the effect of evolutionary forces. Three major Y chromosome haplogroups were in the focus of this study. The analyses of the dominant and autochtonous I2a2-M423 lineage (>30%) suggest the existence of the Balkan refugium in the Paleolithic, the R1a1a1c*-M558 lineage (19%) represents a signal from present day Slavic populations from nothern/central Europe in the Croatian population and the phylogeography of the E1b1b1a2-V13 clade (9%) implies cultural diffusion of agriculture into Europe.

• Keywords: kromosom Y; haplogrupe; genetička raznolikost; genetički izolati; evolucijske sile; filogeografija; Hrvatska; Europa
• Keywords (english): Y chromosome; haplogroups; genetic diversity; genetic isolate; evolutionary forces; phylogeography; Croatia; Europe
• Language: english
• URN:NBN: urn:nbn:hr:217:455071
• Study programme: Title: Biology; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija (doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-17 09:53:42