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Effects of domestication related genes on behaviour, physiology and gene expression in chickens
Linköping University, Department of Physics, Chemistry and Biology, Biology. Linköping University, The Institute of Technology.
2014 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Domestication, the process when animals adapt to captivity, tends to modify a whole array of traits towards what has been termed “the domesticated phenotype”, where the domesticated animal differs from its wild ancestor in morphology, physiology, development and behaviour. Physiological traits and behaviours are controlled by genes. One single gene can control several different traits (pleiotropy), be linked to a neighbouring gene on the chromosome, or interact with another gene that in turn controls another trait. This is the explanation why one can select for high egg production and at the same time get a change in the colour of the plumage. The aim of this thesis was to evaluate the effect of a mutation in two particular genes (PMEL17 and TSHR) related to domestication on behaviour, gene expression and other physiologial traits. The animals investigated were chickens from a cross between the ancestral Red Junglefowl (RJF) and the domesticated White Leghorn (WL) selected for high egg production traits. PMEL17 is a gene affecting plumage colour. A mutation in the gene causes a non-pigmented white plumage and has been shown to protect against feather pecking. Our studies showed that a mutation in the PMEL17 gene affects social, explorative and aggressive behaviour in chickens, but not visual ability. The thyroid stimulating hormone receptor (TSHR) plays an important role in the signal transduction of the hypothalamus-pituitary-thyroid axis that has general effects on development, behaviour and reproduction. A mutation in the TSHR gene affects incubation time, domestication related behaviours such as fear and aggression, gene expression, thyroid hormone levels and photoperiodic reproduction responses in chicken. The results from this thesis suggest that a mutation in the PMEL17 and TSHR genes have pleiotropic effects on behaviour and traits related to domestication, and it is therefore likely that both genes have been important for the domestication of the chicken.

Abstract [sv]

För cirka 8000 år sedan började vi människor att avla vilda höns för egenskaper som gynnar oss. Exempel på dessa egenskaper är hög äggproduktion och stor muskelmassa för köttproduktion. Att aktivt välja ut och avla på de individer som lägger flest ägg och uppvisar snabbast tillväxthastighet gör att djuren förändras. Denna förändringsprocess kallas domesticering.

Domesticeringen innebär inte bara att vissa utvalda egenskaper ändras, utan den bidrar också till förändringar i beteende och utseende, dvs. djurets fenotyp förändras. Den röda djungelhönan (RJF) anses vara stamfadern till alla dagens hönsraser och lever än idag vilt i Sydostasien. Den har en mörk fjäderdräkt som skiftar i brunt, guld och grönt, väger knappt ett kilo, lever i små grupper, lägger cirka 10 ägg per säsong och är mycket skygg av sig. Den domesticerade hönan som vi ser ute i produktionen har oftast helt vit fjäderdräkt, väger minst dubbelt så mycket som sin förfader, klarar av att leva i stora grupper med tusentals andra individer och är vana vid människor. Domesticeringen har alltså inte bara bidragit till att värphöns idag lägger över 200 ägg per år och att slaktkycklingar mer än tiodubblat sin tillväxthastighet, utan har också orsakat andra fenotypiska förändringar.

Gener kontrollerar både utseende och beteende. En och samma gen kan kontrollera flera olika egenskaper (pleiotropi), eller vara kopplad och samverka med en annan gen som styr en annan egenskap, och därmed föra med sig oanade egenskaper. Detta är förklaringen till att man kan avla för hög äggproduktion och samtidigt få med sig en förändring av till exempel färgen på fjäderdräkten.

Den här avhandlingen fokuserar på två specifika gener, där en mutation i respektive gen har återfunnits hos domesticerade höns men inte hos RJF. Den första genen heter PMEL17 och en mutation i denna ger upphov till en vit, opigmenterad fjäderdräkt som återfinns hos värphöns av typen White Leghorn (WL). Samma mutation har också påvisats skydda mot fjäderhackning. Den andra genen heter TSHR och är en viktig länk för utsöndring av tyroideahormoner, vilka är kända för att ha generella effekter på reproduktion, beteende och fysiologiska egenskaper. I denna avhandling undersöks hur en mutation i respektive gen påverkar fenotypen hos höns från en korsning mellan RJF och WL. Resultaten visar att PMEL17-mutationen har en pleiotropisk effekt på socialt, explorativt och aggressivt beteende hos höns, där höns med mutationen bland annat är mindre aggressiva. En mutation i TSHR-genen påverkar utveckling, beteende och tyroidhormon-nivåer, samt djurets reproduktionssystem då dagslängden ändras. De höns med en mutation i TSHR-genen uppvisar liknande beteenden och fysiologisk respons som rena WL.

Resultaten från denna avhandling visar att en mutation i generna PMEL17 och TSHR troligtvis har bidragit till de förändrade egenskaper vi ser hos dagens domesticerade höns då vi jämför dem med den röda djungelhönan. Studierna påvisar dessutom den komplexa koppling som finns mellan enskilda gener och de fenotyper som uppkommer då vi avlar för specifika egenskaper.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2014. , 35 p.
Series
Linköping Studies in Science and Technology. Dissertations, ISSN 0345-7524 ; 1633
National Category
Cell and Molecular Biology Cell Biology Developmental Biology
Identifiers
URN: urn:nbn:se:liu:diva-112870DOI: 10.3384/diss.diva-112870ISBN: 978-91-7519-184-3 (print)OAI: oai:DiVA.org:liu-112870DiVA: diva2:773215
Public defence
2015-01-16, Planck, Fysikhuset, Campus Valla, Linköpings universitet, Linköping, 10:00 (English)
Opponent
Supervisors
Available from: 2014-12-18 Created: 2014-12-18 Last updated: 2016-10-05Bibliographically approved
List of papers
1. Genotype at the PMEL17 locus affects social and explorative behaviour in chickens
Open this publication in new window or tab >>Genotype at the PMEL17 locus affects social and explorative behaviour in chickens
2010 (English)In: BRITISH POULTRY SCIENCE, ISSN 0007-1668, Vol. 51, no 2, 170-177 p.Article in journal (Refereed) Published
Abstract [en]

1. We studied behaviour and brain gene expression in homozygous PMEL17 genotypes, using chickens originating from an advanced White Leghorn x red junglefowl intercross. The behavioural studies consisted of three social and one explorative behaviour test. There were significant differences between the genotypes in both social and explorative behaviour. 2. Gene expression studies showed no PMEL17 expression in brain, so the genotype differences must depend on extra-neural gene expression or expression during embryonic development. However, linkage or spurious family effects (genetic drift) can not be excluded. 3. The study strongly suggests a correlated effect between plumage colour and behaviour, and we conclude that PMEL17 may have a pleiotropic effect on social and explorative behaviour in chickens.

Place, publisher, year, edition, pages
Taylor and Francis, 2010
National Category
Engineering and Technology
Identifiers
urn:nbn:se:liu:diva-56690 (URN)10.1080/00071661003745802 (DOI)000277547700002 ()
Available from: 2010-05-31 Created: 2010-05-31 Last updated: 2014-12-18
2. Genotype on the Pigmentation Regulating PMEL17 Gene Affects Behavior in Chickens Raised Without Physical Contact with Conspecifics
Open this publication in new window or tab >>Genotype on the Pigmentation Regulating PMEL17 Gene Affects Behavior in Chickens Raised Without Physical Contact with Conspecifics
2011 (English)In: BEHAVIOR GENETICS, ISSN 0001-8244, Vol. 41, no 2, 312-322 p.Article in journal (Refereed) Published
Abstract [en]

Chickens homozygous for the Dominant white or wild-type allele of PMEL17 were subjected to a broad phenotyping in order to detect consistent differences between genotypes. To exclude feather pecking, the chickens were individually housed without physical contact, from the day of hatching, and tested for social, aggressive, fear and exploratory behaviors, and corticosterone and testosterone levels were assessed. In a principal component analysis, 53.2% of the behavior variation was explained by two factors. Factor one was an activity and social factor, and there was a significant effect of genotype on the factor scores. On factor two, related to aggressive behavior, there were significant effects of genotype, sex and their interaction. There were no genotype effects on hormone levels or any other measured non-behavioral phenotypes. Hence, differences in behavior between PMEL17 genotypes remained when negative social experiences were excluded, indicating a direct pleiotropic effect of the gene on behavior.

Place, publisher, year, edition, pages
Springer Science Business Media, 2011
Keyword
Chicken, Behavior, PMEL17, Dominant white, Pigmentation
National Category
Engineering and Technology
Identifiers
urn:nbn:se:liu:diva-67038 (URN)10.1007/s10519-010-9379-4 (DOI)000287749700015 ()
Note
The original publication is available at www.springerlink.com: Anna-Carin Karlsson, Pierre Mormede, Susanne Kerje and Per Jensen, Genotype on the Pigmentation Regulating PMEL17 Gene Affects Behavior in Chickens Raised Without Physical Contact with Conspecifics, 2011, BEHAVIOR GENETICS, (41), 2, 312-322. http://dx.doi.org/10.1007/s10519-010-9379-4 Copyright: Springer Science Business Media http://www.springerlink.com/ Available from: 2011-03-25 Created: 2011-03-25 Last updated: 2014-12-18
3. The Dominant white mutation in the PMEL17 gene does not cause visual impairment in chickens.
Open this publication in new window or tab >>The Dominant white mutation in the PMEL17 gene does not cause visual impairment in chickens.
2009 (English)In: Veterinary ophthalmology, ISSN 1463-5224, Vol. 12, no 5, 292-298 p.Article in journal (Refereed) Published
Abstract [en]

Objective: To examine whether the Dominant white mutation (causing a hypopigmented phenotype in chicken) affects the visual ability and gives rise to ocular abnormalities in chickens (Gallus gallus). PROCEDURE: Chickens homozygous for either the Dominant white mutation or the wild-type alleles were tested in a visual contrast behavioral test and subjected to histological and ophthalmologic examination. RESULTS: There were no differences between the genotypes in the visual contrast behavioral test, and there were no abnormal structures among the Dominant white chickens in the ophthalmic examination. The histological sections from the Dominant white chickens did not differ from the wild-type chicken in structure, photoreceptor density, or RPE pigmentation. CONCLUSIONS: The results indicate that the Dominant white mutation in PMEL17 does not seem to affect the visual ability or eye structures in chickens.

Keyword
chickens • Dominant white • ocular abnormalities • pigmentation • PMEL17 • visual impairment
National Category
Natural Sciences
Identifiers
urn:nbn:se:liu:diva-21337 (URN)10.1111/j.1463-5224.2009.00714.x (DOI)19751488 (PubMedID)
Available from: 2009-10-01 Created: 2009-10-01 Last updated: 2014-12-18Bibliographically approved
4. The effect of a mutation in the thyroid stimulating hormone receptor (TSHR) on development, behaviour and TH levels in domesticated chickens
Open this publication in new window or tab >>The effect of a mutation in the thyroid stimulating hormone receptor (TSHR) on development, behaviour and TH levels in domesticated chickens
Show others...
2015 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 10, no 6, e0129040Article in journal (Refereed) Published
Abstract [en]

The thyroid stimulating hormone receptor (TSHR) has been suggested to be a “domestication locus” in the chicken, due to a strong selective sweep over the gene found in domesticated chickens, but not in their wild ancestor the Red Junglefowl (RJF). We investigated the effect of the mutation on development (incubation time), behaviour and thyroid hormone levels in intercross chickens homozygous for the mutation (d/d), wild type homozygotes (w/w) or heterozygotes (d/w). This allowed an assessment of the effect of genotype at this locus against a random mix of RJF and WL genotypes throughout the rest of the genome. The (d/d) genotype showed a longer incubation time, less fearful behaviours, lower number of aggressive behaviours and decreased levels of the thyroid hormone T4, in comparison to the (w/w) genotype. The difference between TSHR genotypes (d/d vs. w/w) in these respects mirrors the differences in development and behaviour between pure domesticated White Leghorns and pure RJF chickens. Our study indicates that the TSHR mutation affects typical domestication traits and may therefore have been important during the evolution of the domestic chicken.

Place, publisher, year, edition, pages
Public Library of Science, 2015
National Category
Developmental Biology Biological Sciences
Identifiers
urn:nbn:se:liu:diva-112866 (URN)10.1371/journal.pone.0129040 (DOI)000355955300078 ()26053744 (PubMedID)
Note

At the time for thesis presentation publication was in status: Manuscript

Funding agencies|Swedish Research Council for Environment, Agricultural Sciences and Spatial Planning, FORMAS (Formel Excel) [221-2010-35]; Swedish Research Council, VR [621-2011-4731]; European Research Council (ERC grant GENEWELL) [322206]

Available from: 2014-12-18 Created: 2014-12-18 Last updated: 2017-12-05Bibliographically approved
5. The effect of a domestication related mutation in the thyroid stimulating hormone receptor (TSHR) on photoperiodic response and reproduction in chicken
Open this publication in new window or tab >>The effect of a domestication related mutation in the thyroid stimulating hormone receptor (TSHR) on photoperiodic response and reproduction in chicken
Show others...
(English)Manuscript (preprint) (Other academic)
Abstract [en]

The thyroid stimulating hormone receptor (TSHR) has been suggested to be a “domestication locus” in the chicken. A strong selective sweep over the gene in domestic breeds of chicken, but not in the ancestral Red Junglefowl, and significant effects of a mutation in TSHR on domestication related traits in chicken, indicate that the gene has been important for the chicken domestication. The TSHR play a key role in the signal transduction of seasonal reproduction, which is characteristically less strict in domestic animals. We investigated the effect of the mutation on reproductive traits as well as TSHB, TSHR, DIO2 and DIO3 gene expression during altered day length (photoperiod) in females and males intercross chickens homozygous for the mutation (d/d) or wild type homozygotes (w/w). This allowed an assessment of the effect of genotype at this locus against a random mix of RJF and WL genotypes throughout the rest of the genome. The TSHR gene expression was significantly lower in both d/d females and males, in comparison to w/w individuals, indicating a strong effect of the “domestic” mutation on gene expression. The d/d females showed a faster increase in the onset of laying than w/w females, and d/d males showed a reduced response to altered day length in testicular size and significant lower levels of TSHB and DIO3 expression, in comparison to w/w males. Additionally, pure White Leghorn females kept under natural day length in Sweden during December showed active ovaries and significant lower levels of TSHR and DIO3 expression in comparison to Red Junglefowl females kept under similar conditions. Our study suggest that the TSHR mutation affects photoperiodic response in chicken in the direction of being less dependent on seasonal reproduction, a typical domestication feature, and may therefore have been important for the chicken domestication.

National Category
Developmental Biology Cell and Molecular Biology Other Biological Topics
Identifiers
urn:nbn:se:liu:diva-112867 (URN)
Available from: 2014-12-18 Created: 2014-12-18 Last updated: 2017-03-17Bibliographically approved

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