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#117335 - 12/13/18 07:22 PM Re: Journal papers online - reference list [Re: KazJaps]
KazJaps Offline
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Registered: 08/30/02
Posts: 2882
Loc: Australia
A Nov 2018 paper, an autosomal recessive mutation "yellowish" yw in Japanese Quail, occurred on PMEL locus, same as chicken I locus (Dominant White, Dun, Smoky):

Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail
Ishishita, S., Takahashi, M., Yamaguchi, K., Kinoshita, K., Nakano, M., Nunome, M., Kitahara, S., Tatsumoto, S., Go, Y., Shigenobu, S., … Matsuda, Y. (2018).
Scientific reports, 8(1), 16732. doi:10.1038/s41598-018-34827-4
Full paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233202/

* Comparison photos of wild-type to yw in Figure 1 indicate that the mutation dilutes eumelanin black to brown.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233202/figure/Fig1/


Edited by KazJaps (12/13/18 07:27 PM)
Edit Reason: Added last sentence

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#117343 - 12/30/18 03:56 AM Re: Journal papers online - reference list [Re: KazJaps]
KazJaps Offline
Classroom Professor

Registered: 08/30/02
Posts: 2882
Loc: Australia
Dissertation paper of Jingyi Li (2017) (lead author of the 2018 choc TYRP1 paper)

Gene Mapping of Morphological Traits in Chickens
Full paper: https://vtechworks.lib.vt.edu/bitstream/handle/10919/85397/Li_J_D_2017.pdf

Quote:
This research focused on gene mapping of 12 morphological traits including:
- 4 intra-feather color patterns (Pattern, Columbian, Melanotic, and mottling),
- 2 inter-feather color patterns (Blue and chocolate),
- 2 forms of feathered-legs,
- polydactyly,
- dark brown eggshell color,
- vulture hock, and
- creeper.


* Bl blue mutation believed to be on Chromosome 1. He did not find it on MITF gene (as proposed a possibility after previous test breeding of Bl chicken with MITF mutation in Japanese Quail). They think now Bl occurred on TMEM110-like locus. Further research needed, also found a 2nd mutation allele bl^d in black phenotype silkies that they think might be a partial back mutation from Bl to bl+.

* Also further DNA sequencing of mo variety chickens, this time European breed stock: Houdan, Speckled Sussex, Spangled OEG and Millefleur D'Uccle. They found a different mo allele to the Japanese mo research (none had Japanese mo Arg332His substitution in EDNRB2 gene) the Houdan, Speckled Sussex and Spangled OEG all shared the same mo sequence, Ala228Thr substitution on EDNRB2 gene. But, the Millefleur d'Uccle didn't have Ala228Thr mutation, nor Arg332His, so further research needed to find the mo d'Uccle causal mutation. This difficult to do as the EDNRB2 gene is very polymorphic (many different mutations, but not many correlate to mo or mo^w phenotypes).


Edited by KazJaps (12/30/18 04:59 AM)
Edit Reason: edited paper link

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#117344 - 12/31/18 03:40 PM Re: Journal papers online - reference list [Re: KazJaps]
Wieslaw Offline
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Registered: 09/18/09
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https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125883

Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas platyrhynchos)

Quote:
Abstract
Endothelin receptor B subtype 2 (EDNRB2) is a seven-transmembrane G-protein coupled receptor. In this study, we investigated EDNRB2 gene as a candidate gene for duck spot plumage pattern according to studies of chicken and Japanese quail. The entire coding region was cloned by the reverse transcription polymerase chain reaction (RT-PCR). Sequence analysis showed that duck EDNRB2 cDNA contained a 1311bp open reading frame and encoded a putative protein of 436 amino acids residues. The transcript shared 89%-90% identity with the counterparts in other avian species. A phylogenetic tree based on amino acid sequences showed that duck EDNRB2 was evolutionary conserved in avian clade. The entire coding region of EDNRB2 were sequenced in 20 spot and 20 non-spot ducks, and 13 SNPs were identified. Two of them (c.940G>A and c.995G>A) were non-synonymous substitutions, and were genotyped in 647 ducks representing non-spot and spot phenotypes. The c.995G>A mutation, which results in the amino acid substitution of Arg332His, was completely associated with the spot phenotype: all 152 spot ducks were carriers of the AA genotype and the other 495 individuals with non-spot phenotype were carriers of GA or GG genotype, respectively. Segregation in 17 GA×GG and 22 GA×GA testing combinations confirmed this association since the segregation ratios and genotypes of the offspring were in agreement with the hypothesis. In order to investigate the underlying mechanism of the spot phenotype, MITF gene was used as cell type marker of melanocyte progenitor cells while TYR and TYRP1 gene were used as cell type markers of mature melanocytes. Transcripts of MITF, TYR and TYRP1 gene with expected size were identified in all pigmented skin tissues while PCR products were not obtained from non-pigmented skin tissues. It was inferred that melanocytes are absent in non-pigmented skin tissues of spot ducks.


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#117345 - 12/31/18 10:30 PM Re: Journal papers online - reference list [Re: Wieslaw]
KazJaps Offline
Classroom Professor

Registered: 08/30/02
Posts: 2882
Loc: Australia
Thanks Wieslaw.

So researchers have found the same Arg332His mutation on EDNRB2 gene in 3 different white spotted avian species, mo allele in mottled Japanese chicken stock, s allele in panda Japanese Quail, and also in spotted ducks. But in multiple European mo chicken breeds, the Ala228Thr mutation on EDNRB2 gene was found associated with mo, neither mutations found in Millefleur d'Uccles.


Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese quail.
Miwa et al.
Anim Genet. 2007 Apr;38(2):103-8. Epub 2007 Feb 22.
Abstract: https://www.ncbi.nlm.nih.gov/pubmed/17313575


Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w) ) and mottled (mo) plumage phenotypes in the chicken
Kinoshita, Keiji et al.
PloS one vol. 9,1 e86361. 23 Jan. 2014, doi:10.1371/journal.pone.0086361
Full paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900529/

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#117360 - 01/16/19 06:44 PM Re: Journal papers online - reference list [Re: KazJaps]
KazJaps Offline
Classroom Professor

Registered: 08/30/02
Posts: 2882
Loc: Australia
No new research, just adding old archive references on y (WHAM) sex linked recessive white skin mutation. I forgot to add to journal list...
----------------'

The y mutation spontaneously occurred in a closed White Leghorn flock at the University of Wisconsin-Madison, & was maintained for research. The mutant flock was later named WHAM (Wisconsin hypoalpha mutant), and the mutation has been sequenced (occurred on the ABCA1 gene).

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
Attie et al.
October 2002 The Journal of Lipid Research, 43, 1610-1617.
Full Paper

Here's another research paper on y (WHAM):
Spontaneous high density lipoprotein deficiency syndrome associated with a Z-linked mutation in chickens
Poernama F, Schreyer SA, Bitgood JJ, Cook ME, Attie AD.
J Lipid Res. 1990 Jun;31(6):955-63.
Full Paper

*As you can surmise from these research papers, the y mutation is regarded as a heritable disease (why the interest in research).

-----------------------
I recall Lee Sellers mention that the y mutation was in his commercial layer White Leghorn flock, but I haven't heard of it occurring elsewhere.

Yes, y needs w for expression on skin colour, but there are other pleiotropic effects.

PB&G (1990)...
Quote:
...A role for y in practical sex-linked crosses appears unlikely, since white-skinned birds have significantly reduced growth rate and feed utilization (Patterson et al., 1983).


The first noted occurrence of the mutation (1981) ...
White skin: a Z-linked recessive mutation in the fowl.
W. H. McGibbon
J Hered (1981) 72(2): 139-140
Abstract
Quote:
A 6-week-old pullet was noted with white shanks and beak from a strain of SC White Leghorns, pedigree-bred as a closed flock since 1948. Mating of the mutant to males with yellow skin produced only yellow skinned progeny. The F2 progeny consisted of equal numbers of yellow or white shanked pullets and yellow shanked sons. This distribution indicates that the new trait is due to a mutation on the Z chromosome. The symbol y is suggested for the new allele. Tests for linkage with late feathering K and with id revealed that the new locus is not closely linked with either. The white shank color trait is quite accurately identified in the newly hatched chick.


Patterson, P.H., S. Barbut, and J.J. Bitgood, 1983. Effect of Z-linked recessive white skin and supplemental xanthophyll on early chick body weight and shank colour. Poultry Sci. 62:1480 (Abstract).

Z-linked recessive white skin: possible defect in de novo pathway of phosphatidyl choline synthesis - effect of feeding choline deficient diet.
Poernama, F. J.J Bitgood, and M.E. Cook,
Poultry Sci. 1987. 66 (Suppl. I):160

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#117363 - 02/09/19 05:07 PM Re: Journal papers online - reference list [Re: KazJaps]
KazJaps Offline
Classroom Professor

Registered: 08/30/02
Posts: 2882
Loc: Australia
The following study was on the genes that influence the shade of blue eggshells (light to dark)

Darwish, Hesham Y A et al.
“Genome-wide association study and a post replication analysis revealed a promising genomic region and candidate genes for chicken eggshell blueness”
PloS one vol. 14,1 e0209181. 23 Jan. 2019, doi:10.1371/journal.pone.0209181

Full paper https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343938/

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