uu.seUppsala University Publications
Change search
Link to record
Permanent link

Direct link
BETA
Gunnarsson, Ulrika
Publications (5 of 5) Show all publications
Lamichhaney, S., Fan, G., Widemo, F., Gunnarsson, U., Thalmann, D. S., Höppner, M. P., . . . Andersson, L. (2016). Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax). Nature Genetics, 48(1), 84-+
Open this publication in new window or tab >>Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax)
Show others...
2016 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 1, p. 84-+Article in journal (Refereed) Published
Abstract [en]

The ruff is a Palearctic wader with a spectacular lekking behavior where highly ornamented males compete for females(1-4). This bird has one of the most remarkable mating systems in the animal kingdom, comprising three different male morphs (independents, satellites and faeders) that differ in behavior, plumage color and body size. Remarkably, the satellite and faeder morphs are controlled by dominant alleles(5,6). Here we have used whole-genome sequencing and resolved the enigma of how such complex phenotypic differences can have a simple genetic basis. The Satellite and Faeder alleles are both associated with a 4.5-Mb inversion that occurred about 3.8 million years ago. We propose an evolutionary scenario where the Satellite chromosome arose by a rare recombination event about 500,000 years ago. The ruff mating system is the result of an evolutionary process in which multiple genetic changes contributing to phenotypic differences between morphs have accumulated within the inverted region.

National Category
Genetics
Identifiers
urn:nbn:se:uu:diva-274919 (URN)10.1038/ng.3430 (DOI)000367255300018 ()26569123 (PubMedID)
Funder
Knut and Alice Wallenberg FoundationSwedish Research Council, 1989-2546Swedish Research Council, 1992-2685Swedish Research Council, 2013-5418Swedish Research Council, 2001-6005Swedish Research Council, 80576801Swedish Research Council, 70374401
Available from: 2016-01-27 Created: 2016-01-26 Last updated: 2017-11-30Bibliographically approved
Gunnarsson, U., Hellström, A. R., Tixier-Boichard, M., Minvielle, F., Bed'hom, B., Ito, S., . . . Andersson, L. (2007). Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail. Genetics, 175(2), 867-877
Open this publication in new window or tab >>Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail
Show others...
2007 (English)In: Genetics, ISSN 0016-6731, E-ISSN 1943-2631, Vol. 175, no 2, p. 867-877Article in journal (Refereed) Published
Abstract [en]

S*S (Silver), S*N (wild type/gold), and S*AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S*AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, associated only with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basis of the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.

National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-22448 (URN)10.1534/genetics.106.063107 (DOI)000244689600037 ()17151254 (PubMedID)
Available from: 2008-03-05 Created: 2008-03-05 Last updated: 2017-12-07Bibliographically approved
Rubin, C.-J., Brändström, H., Wright, D., Kerje, S., Gunnarsson, U., Schütz, K., . . . Kindmark, A. (2007). Quantitative Trait Loci for BMD and Bone Strength in an Intercross Between Domestic and Wildtype Chickens. Journal of Bone and Mineral Research, 22(3), 375-384
Open this publication in new window or tab >>Quantitative Trait Loci for BMD and Bone Strength in an Intercross Between Domestic and Wildtype Chickens
Show others...
2007 (English)In: Journal of Bone and Mineral Research, ISSN 0884-0431, E-ISSN 1523-4681, Vol. 22, no 3, p. 375-384Article in journal (Refereed) Published
Abstract [en]

With chicken used as a model species, we used QTL analysis to examine the genetic contribution to bone traits. We report the identification of four QTLs for femoral traits: one for bone strength, one for endosteal circumference, and two affecting mineral density of noncortical bone. Introduction: BMD is a highly heritable phenotype, governed by elements at numerous loci. In studies examining the genetic contribution to bone traits, many loci have been identified in humans and in other species. The goal of this study was to identify quantitative trait loci (QTLs) controlling BMD and bone strength in an intercross between wildtype and domestic chickens. Materials and Methods: A set of 164 markers, covering 30 chromosomes (chr.), were used to genotype 337 F 2-individuals from an intercross of domesticated white Leghorn and wildtype red junglefowl chicken. DXA and pQCT were used to measure BMD and bone structure. Three-point bending tests and torsional strength tests were performed to determine the biomechanical strength of the bone. QTLs were mapped using forward selection for loci with significant marginal effects. Results: Four QTLs for femoral bone traits were identified in QTL analysis with body weight included as a covariate. A QTL on chr. 1 affected female noncortical BMD (LOD 4.6) and is syntenic to human 12q21-12q23. Also located on chr. 1, a locus with synteny to human 12q 13-1.4 affected endosteal circumference (LOD 4.6). On chr. 2, a QTL corresponding to human 5p13-p15, 7p12, 18q12, 18q21, and 9q22-9q31 affected BMD in females; noncortical (LOD 4.0) and metaphyseal (LOD 7.0) BMD by pQCT and BMD by DXA (LOD 5.9). A QTL located on chr. 20 (LOD 5.2) affected bone biomechanical strength and had sex-dependent effects. In addition to the significant QTLs, 10 further loci with suggestive linkage to bone traits were identified. Conclusions: Four QTLs were identified: two for noncortical BMD, one for endosteal circumference, and one affecting bone biomechanical strength. The future identification of genes responsible for these QTLs will increase the understanding of vertebrate skeletal biology.

Keywords
chicken, quantitative trait loci, BMD, biomechanics
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-96811 (URN)10.1359/jbmr.061203 (DOI)000244619400005 ()17181401 (PubMedID)
Available from: 2008-03-06 Created: 2008-03-06 Last updated: 2017-12-14Bibliographically approved
Wong, G.-S. K., Liu, B., Wang, J., Zhang, Y., Yang, X., Zhang, Z., . . . Yang, H. (2004). A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.. Nature, 432(7018), 717-22
Open this publication in new window or tab >>A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.
Show others...
2004 (English)In: Nature, ISSN 1476-4687, Vol. 432, no 7018, p. 717-22Article in journal (Refereed) Published
Keywords
Alleles, Amino Acid Sequence, Animals, Animals; Domestic/classification/genetics, Chickens/classification/*genetics, Chromosomes/genetics, Comparative Study, Female, Genome, Genomics, Haplotypes/genetics, Humans, Molecular Sequence Data, Ornithine Carbamoyltransferase/chemistry, Physical Chromosome Mapping, Polymorphism; Single Nucleotide/*genetics, Research Support; Non-U.S. Gov't, Research Support; U.S. Gov't; Non-P.H.S., Selection (Genetics)
National Category
Genetics
Identifiers
urn:nbn:se:uu:diva-72654 (URN)15592405 (PubMedID)
Available from: 2006-05-09 Created: 2006-05-09 Last updated: 2018-02-22
Kerje, S., Sharma, P., Gunnarsson, U., Kim, H., Bagchi, S., Fredriksson, R., . . . Andersson, L. (2004). The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene.. Genetics, 168(3), 1507-18
Open this publication in new window or tab >>The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene.
Show others...
2004 (English)In: Genetics, ISSN 0016-6731, Vol. 168, no 3, p. 1507-18Article in journal (Refereed) Published
Identifiers
urn:nbn:se:uu:diva-68046 (URN)15579702 (PubMedID)
Available from: 2007-03-12 Created: 2007-03-12 Last updated: 2011-01-12
Organisations

Search in DiVA

Show all publications