Title Variability of DRB locus of MHC genes class II in chamois (Rupicapra spp.) Title (croatian) Raznolikost DRB lokusa MHC gena skupine II u divokoza (Rupicapra spp.) Author Sunčica Stipoljev Mentor Nikica Šprem (mentor)Mentor Elena Bužan Committee member Toni Safner (predsjednik povjerenstva)Committee member Tea Tomljanović (član povjerenstva)Committee member Ana Galov (član povjerenstva)Granter University of Zagreb Defense date and country 2022-05-25, Croatia Scientific / art field, BIOTECHNICAL SCIENCES Universal decimal classificationUDC ) 638/639 - Apiculture. Keeping, breeding and management of insects and other arthropods. Hunting. Fishing. Fish breeding Abstract The chamois, Rupicapra spp, is a species in the family Bovidae and one of the most
common mountain ungulates, distributed in the mountain ranges of Europe and Asia Minor,
where it occurs in two species according to its morphological and behavioral characteristics:
the Northern chamois R. rupicapra (with subspecies cartusiana, rupicapra, tatrica,
balcanica, carpatica, asiatica and caucasica) and the Southern chamois R. pyrenaica (with
subspecies parva, pyrenaica and ornata).
The major histocompatibility complex (MHC) is a family of genes that encode
receptors that recognize and bind antigens to present them to T cells. They are therefore
central to vertebrate adaptive immunity. The MHC region comprises some of the most
variable loci in the vertebrate genome, which have been associated with various fitness
traits and thus with the long-term persistence of populations. Because of their wellcharacterized
function and exceptional diversity, they represent excellent markers for
evolutionary ecology and conservation. Traditional methods have been commonly used for
their genotyping, but the introduction of next-generation sequencing has enabled more
accurate and reproducible genotyping of such polymorphic gene families.
In this work, the genetic diversity of the second exon of the MHC class II DRB locus
was analyzed in 110 individuals from populations covering most of the range of the genus
Rupicapra using a next-generation approach (Ion Torrent S5, Thermo Fisher). MHC DRB
exon 2 encodes functionally important residues of the antigen binding groove and can
therefore be used as a measure of the functional diversity of DRB alleles.
Twenty-five MHC DRB alleles were found, each translated into a unique amino acid
sequence, indicating the functional importance of polymorphism between alleles. Fourteen
novel DRB alleles were identified in this study, two of which were found only in R. r.
carpatica, two in R. r. asiatica, three in R. r. balcanica, and four only in R. r. rupicapra. A
gene duplication was not identified. The high ratio of the relative rates of non-synonymous
to synonymous mutations and the presence of trans-species polymorphisms suggest that
this locus was under strong balancing selection throughout the evolutionary history of this
species.
Abstract (croatian) Divokoza (Rupicapra spp.) je papkar iz porodice šupljorožaca (Bovidae)
rasprostranjen na planinskim lanacima diljem Europe i Bliskog Istoka, a prema morfoloških
i bihevioralnim svojstvima dijeli se na dvije vrste: sjevernu divokozu Rupicapra rupicapra
(sa podvrstama cartusiana, rupicapra, tatrica, balcanica, carpatica, asiatica i caucasica) i
južnu divokozu Rupicapra pyrenaica (sa podvrstama parva, pyrenaica i ornata).
Glavni sustav tkivne podudarnosti ili MHC (eng. major histocompatibility complex)
je porodica gena koji kodiraju receptore koji prepoznaju i vežu antigene kako bi ih predstavili
T stanicama te su izuzetno važni za adaptivnu imunost kralježnjaka. MHC regija obuhvaća
neke od najvarijabilnijih lokusa u genomu kralježnjaka, koji su povezani s različitim
obilježjima fitnesa, a time i s dugotrajnom postojanošću populacija. Zbog svoje dobro
okarakterizirane funkcije i iznimne raznolikosti, predstavljaju izvrsne markere u evolucijskoj
ekologiji i konzervaciji. Za njihovu genotipizaciju obično se koriste tradicionalne metode, ali
uvođenje sekvenciranja sljedeće generacije omogućilo je točniju i ponovljivu genotipizaciju
takvih polimorfnih genskih porodica.
U ovom radu analizirana je genetička raznolikost egzona 2 MHC DRB lokusa
skupine II u 110 jedinki iz populacija koje pokrivaju većinu područja rasprostranjenja roda
Rupicapra korištenjem sekvenciranja sljedeće generacije (Ion Torrent S5, Thermo Fisher).
MHC DRB egzon 2 kodira funkcionalno važne aminokiseline za vezanje antigena i stoga
se može koristiti kao mjera funkcionalne raznolikosti DRB alela.
Pronađeno je dvadeset i pet MHC DRB alela, od kojih svaki translacijom daje
jedinstveni aminokiselinski slijed, što ukazuje na funkcionalnu važnost polimorfizma među
alelima. U ovoj studiji identificirano je četrnaest novih DRB alela, od kojih su dva pronađena
samo u R. r. carpatica, dva u R. r. asiatica, tri u R. r. balcanica, a četiri u R. r. rupicapra.
Duplikacija gena nije identificirana. Visok omjer relativnih stopa nesinonimnih i sinonimnih
mutacija i prisutnost trans-specijskog polimorfizama sugeriraju da je ovaj lokus bio pod
snažnom balansirajućom selekcijom tijekom evolucijske povijesti divokoza.
Keywords
Rupicapra
major histocompatibility complex
next-generation sequencing
allelic polymorphism
conservation
Keywords (croatian)
Rupicapra
glavni sustav tkivne podudarnosti
sekvenciranje sljedeće generacije
alelni polimorfizam
konzervacija
Language english URN:NBN urn:nbn:hr:204:983886 Promotion 2022 Study programme Title: Agricultural Sciences Catalog URL http://194.152.210.24/cgi-bin/wero.cgi?q=580851003229 Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2022-07-05 09:02:46
