Molecular identification of colour pattern genes in birds
Birds display a spectacular range of plumage pigmentation. The purpose of this thesis was to elucidate genetic mechanisms that contribute to pattern formation on individual feathers and the body. In study I and II, we investigated two barring patterns in chicken. We show that in the Fayoumi breed au...
Main Author: | |
---|---|
Other Authors: | , , , , , , |
Format: | Doctoral or Postdoctoral Thesis |
Language: | English |
Published: |
HAL CCSD
2018
|
Subjects: | |
Online Access: | https://hal.archives-ouvertes.fr/tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119v2/document https://hal.archives-ouvertes.fr/tel-02942119v2/file/45893_SCHWOCHOW-THALMANN_2018_archivage.pdf |
id |
ftunivnantes:oai:HAL:tel-02942119v2 |
---|---|
record_format |
openpolar |
spelling |
ftunivnantes:oai:HAL:tel-02942119v2 2023-05-15T17:58:42+02:00 Molecular identification of colour pattern genes in birds Identification de gènes de dessin de plumage chez les oiseaux Schwochow-Thalmann, Doreen Génétique Animale et Biologie Intégrative (GABI) Institut National de la Recherche Agronomique (INRA)-AgroParisTech Veterinary and Animal Science Center Uppsala, Sweden Institut agronomique, vétérinaire et forestier de France Sveriges lantbruksuniversitet Leif Andersson Michèle Tixier-Boichard 2018-03-03 https://hal.archives-ouvertes.fr/tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119v2/document https://hal.archives-ouvertes.fr/tel-02942119v2/file/45893_SCHWOCHOW-THALMANN_2018_archivage.pdf en eng HAL CCSD NNT: 2018IAVF0003 tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119v2/document https://hal.archives-ouvertes.fr/tel-02942119v2/file/45893_SCHWOCHOW-THALMANN_2018_archivage.pdf info:eu-repo/semantics/OpenAccess https://hal.archives-ouvertes.fr/tel-02942119 Animal genetics. Institut agronomique, vétérinaire et forestier de France; Sveriges lantbruksuniversitet, 2018. English. ⟨NNT : 2018IAVF0003⟩ Birds Chicken Ruff Pigmentation Plumage Feather pattern MC1R Autosomal barring Sex-linked barring Melanocytes Feather follicle Oiseaux Poulet Chevalier combattant Coloration du plumage Dessin de plumage Barrure autosomale Barrure liée au sexe Mélanocyte Follicule plumeux [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics info:eu-repo/semantics/doctoralThesis Theses 2018 ftunivnantes 2022-12-07T00:48:19Z Birds display a spectacular range of plumage pigmentation. The purpose of this thesis was to elucidate genetic mechanisms that contribute to pattern formation on individual feathers and the body. In study I and II, we investigated two barring patterns in chicken. We show that in the Fayoumi breed autosomal barring is associated with a 1Mb un-recombined region on chromosome 11, which contains the MC1R gene. Our functional analysis strongly suggests that autosomal barring is primarily caused by activating MC1R mutations and that other loci contribute to the appearance of the pattern. In study II, we demonstrate that sex-linked barring is created by a combination of cisregulatory and missense mutations in the CDKN2A/ ARF gene. We demonstrate that the upregulation of CDKN2A expression is caused by non-coding mutation(s) and is resulting in a dilute barring pattern. Functional testing revealed that the two missense mutations in ARF hamper its function and restrict the diluting effect of the non-coding mutations. Only the combination of both regulatory and missense mutations generates clear barring pattern as observed e.g. in the Barred Plymouth Rock. In study III and IV, we investigated the genetic mechanisms driving pigment pattern variation in the ruff (Philomachus pugnax). We first identified a 4.5 Mb inversion to be associated with the two male reproductive morphs called satellite and faeder. These morphs differ substantially in behavior, reproductive strategy, body size and plumage appearance between each other as well as from the third, more prevalent morph, the independent. The inversion disrupts the CENPN gene making this genomic re-arrangement homozygous lethal. We identified a large set of variants; among them four missense mutations in MC1R associated with the Satellite allele. In study IV, we explored whether these MC1R mutations are contributing to the light display plumage of the satellite morph. Our data shows that MC1R is up-regulated in all coloured satellite feathers and that this is due to a higher ... Doctoral or Postdoctoral Thesis Philomachus pugnax Ruff Université de Nantes: HAL-UNIV-NANTES Chevalier ENVELOPE(-57.831,-57.831,51.500,51.500) |
institution |
Open Polar |
collection |
Université de Nantes: HAL-UNIV-NANTES |
op_collection_id |
ftunivnantes |
language |
English |
topic |
Birds Chicken Ruff Pigmentation Plumage Feather pattern MC1R Autosomal barring Sex-linked barring Melanocytes Feather follicle Oiseaux Poulet Chevalier combattant Coloration du plumage Dessin de plumage Barrure autosomale Barrure liée au sexe Mélanocyte Follicule plumeux [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics |
spellingShingle |
Birds Chicken Ruff Pigmentation Plumage Feather pattern MC1R Autosomal barring Sex-linked barring Melanocytes Feather follicle Oiseaux Poulet Chevalier combattant Coloration du plumage Dessin de plumage Barrure autosomale Barrure liée au sexe Mélanocyte Follicule plumeux [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics Schwochow-Thalmann, Doreen Molecular identification of colour pattern genes in birds |
topic_facet |
Birds Chicken Ruff Pigmentation Plumage Feather pattern MC1R Autosomal barring Sex-linked barring Melanocytes Feather follicle Oiseaux Poulet Chevalier combattant Coloration du plumage Dessin de plumage Barrure autosomale Barrure liée au sexe Mélanocyte Follicule plumeux [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics |
description |
Birds display a spectacular range of plumage pigmentation. The purpose of this thesis was to elucidate genetic mechanisms that contribute to pattern formation on individual feathers and the body. In study I and II, we investigated two barring patterns in chicken. We show that in the Fayoumi breed autosomal barring is associated with a 1Mb un-recombined region on chromosome 11, which contains the MC1R gene. Our functional analysis strongly suggests that autosomal barring is primarily caused by activating MC1R mutations and that other loci contribute to the appearance of the pattern. In study II, we demonstrate that sex-linked barring is created by a combination of cisregulatory and missense mutations in the CDKN2A/ ARF gene. We demonstrate that the upregulation of CDKN2A expression is caused by non-coding mutation(s) and is resulting in a dilute barring pattern. Functional testing revealed that the two missense mutations in ARF hamper its function and restrict the diluting effect of the non-coding mutations. Only the combination of both regulatory and missense mutations generates clear barring pattern as observed e.g. in the Barred Plymouth Rock. In study III and IV, we investigated the genetic mechanisms driving pigment pattern variation in the ruff (Philomachus pugnax). We first identified a 4.5 Mb inversion to be associated with the two male reproductive morphs called satellite and faeder. These morphs differ substantially in behavior, reproductive strategy, body size and plumage appearance between each other as well as from the third, more prevalent morph, the independent. The inversion disrupts the CENPN gene making this genomic re-arrangement homozygous lethal. We identified a large set of variants; among them four missense mutations in MC1R associated with the Satellite allele. In study IV, we explored whether these MC1R mutations are contributing to the light display plumage of the satellite morph. Our data shows that MC1R is up-regulated in all coloured satellite feathers and that this is due to a higher ... |
author2 |
Génétique Animale et Biologie Intégrative (GABI) Institut National de la Recherche Agronomique (INRA)-AgroParisTech Veterinary and Animal Science Center Uppsala, Sweden Institut agronomique, vétérinaire et forestier de France Sveriges lantbruksuniversitet Leif Andersson Michèle Tixier-Boichard |
format |
Doctoral or Postdoctoral Thesis |
author |
Schwochow-Thalmann, Doreen |
author_facet |
Schwochow-Thalmann, Doreen |
author_sort |
Schwochow-Thalmann, Doreen |
title |
Molecular identification of colour pattern genes in birds |
title_short |
Molecular identification of colour pattern genes in birds |
title_full |
Molecular identification of colour pattern genes in birds |
title_fullStr |
Molecular identification of colour pattern genes in birds |
title_full_unstemmed |
Molecular identification of colour pattern genes in birds |
title_sort |
molecular identification of colour pattern genes in birds |
publisher |
HAL CCSD |
publishDate |
2018 |
url |
https://hal.archives-ouvertes.fr/tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119v2/document https://hal.archives-ouvertes.fr/tel-02942119v2/file/45893_SCHWOCHOW-THALMANN_2018_archivage.pdf |
long_lat |
ENVELOPE(-57.831,-57.831,51.500,51.500) |
geographic |
Chevalier |
geographic_facet |
Chevalier |
genre |
Philomachus pugnax Ruff |
genre_facet |
Philomachus pugnax Ruff |
op_source |
https://hal.archives-ouvertes.fr/tel-02942119 Animal genetics. Institut agronomique, vétérinaire et forestier de France; Sveriges lantbruksuniversitet, 2018. English. ⟨NNT : 2018IAVF0003⟩ |
op_relation |
NNT: 2018IAVF0003 tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119 https://hal.archives-ouvertes.fr/tel-02942119v2/document https://hal.archives-ouvertes.fr/tel-02942119v2/file/45893_SCHWOCHOW-THALMANN_2018_archivage.pdf |
op_rights |
info:eu-repo/semantics/OpenAccess |
_version_ |
1766167387095171072 |