A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes

2017 ◽  
Vol 48 (4) ◽  
pp. 497-498 ◽  
Author(s):  
Heather M. Holl ◽  
Samantha A. Brooks ◽  
Meredith L. Carpenter ◽  
Carlos D. Bustamante ◽  
Christa Lafayette
Keyword(s):  
Coat Color ◽  
Splice Mutation ◽  
White Coat ◽  
Homozygous State

scholarly journals Functional analysis of KIT gene structural mutations causing porcine dominant white phenotype by using genome edited mouse models

2019 ◽  
Author(s):  
Guangjie Sun ◽  
Xinyu Liang ◽  
Ke Qin ◽  
Yufeng Qin ◽  
Xuan Shi ◽  
...  
Keyword(s):  
Mouse Model ◽  
Mouse Models ◽  
Kinase Activity ◽  
Coat Color ◽  
Coat Colour ◽  
Splice Mutation ◽  
White Coat ◽  
Genetic Mechanisms ◽  
Structural Mutations ◽  
Insight Into

AbstractDominant white phenotype in pigs is considered to be caused by two structural mutations in KIT gene, including a 450-kb duplication encompassing the entire KIT gene, and a splice mutation (G > A) at the first base in intron 17, which leads to the deletion of exon 17 in mature KIT mRNA, and the production of KIT protein lacking a critical catalytic domain of kinase. However, this speculation has not yet been validated by functional studies. Here, by using CRISPR/Cas9 technology, we created two mouse models mimicing the structural mutations of KIT gene in dominant white pigs, including the splice mutation mouse model KIT D17/+ with exon 17 of one allele of KIT gene deleted, and duplication mutation mouse model KIT Dup/+ with one allele of KIT gene coding sequence (CDS) duplicated. We found that each mutation individually can not cause dominant white phenotype. Splice mutation homozygote is lethal and heterozygous mice present piebald coat. Inconsistent with previous speculation, we found KIT gene duplication mutation did not confer the patched phenotype, and had no obvious impact on coat color. Interestingly, combination of these two mutations lead to dominant white phenotype. Further molecular analysis revealed that combination of these two structural mutations could inhibit the kinase activity of the KIT protein, thus reduce the phosphorylation level of PI3K and MAPK pathway associated proteins, which may be related to the observed impaired migration of melanoblasts during embryonic development, and eventually lead to dominant white phenotype. Our study provides a further insight into the underlying genetic mechanisms of porcine dominant white coat colour.Author summaryKIT plays a critical role in control of coat colour in mammals. Two mutation coexistence in KIT are considered to be the cause of the Dominant white phenotype in pigs. One mutation is a 450-kb large duplication encompassing the entire KIT gene, another mutation is a splice mutation causing the skipping of KIT exon 17. The mechanism of these two mutations of KIT on coat color formation has not yet been validated. In this study, by using genome edited mouse models, we found each structural mutation individual does not lead dominant white phenotype, but combination of these two mutations could lead to a nearly complete white coat colour similar to pig dominant white phenotype, possibly due to the inhibition of the kinase activity of the KIT protein, thus its signalling function on PI3K and MAPK pathways, leading to impaired migration of melanoblasts during embryonic development, and eventually lead to dominant white phenotype. Our study provides a further insight into the underlying genetic mechanisms of porcine dominant white coat colour.

scholarly journals Cloning and association analysis of KIT and EDNRB polymorphisms with dominant white coat color in the Chinese raccoon dog (Nyctereutes procyonoides procyonoides)

2015 ◽  
Vol 14 (2) ◽  
pp. 6549-6554 ◽  
Author(s):  
S.Q. Yan ◽  
C.Y. Bai ◽  
S.M. Qi ◽  
M.L. Li ◽  
S. Si ◽  
...  
Keyword(s):  
Association Analysis ◽  
Coat Color ◽  
White Coat ◽  
Nyctereutes Procyonoides ◽  
Raccoon Dog

scholarly journals Novel insights into Sabino1 and splashed white coat color patterns in horses

2018 ◽  
Vol 49 (3) ◽  
pp. 249-253 ◽  
Author(s):  
T. Druml ◽  
G. Grilz-Seger ◽  
M. Neuditschko ◽  
M. Horna ◽  
A. Ricard ◽  
...  
Keyword(s):  
Coat Color ◽  
White Coat ◽  
Color Patterns

148 PRODUCTION OF PUPS BY OVARIAN TRANSFER IN THE SYRIAN HAMSTER

2008 ◽  
Vol 20 (1) ◽  
pp. 154
Author(s):  
O. Suzuki ◽  
M. Koura ◽  
K. Takano ◽  
Y. Noguchi ◽  
K. Uchio-Yamada ◽  
...  
Keyword(s):  
Syrian Hamster ◽  
Coat Color ◽  
Immunological Tolerance ◽  
White Coat ◽  
Ministry Of Health ◽  
Syrian Hamsters ◽  
Foster Mothers ◽  
Preservation Method ◽  
Successful Transplantation

Instead of gametes, ovaries could be used as alternative resources for cryopreservation. In this study, we attempted to produce pups by transplantation of fresh ovaries to foster mothers as a first step to establish a preservation method of hamster strains on the basis of the cryopreservation of ovaries in combination with ovarian transfers. We also checked the possibility of inter-strain transfers of ovaries, since immunological tolerance among hamster strains is suggested by the fact that most Syrian hamsters were derived from only a small number of animals. Fresh ovaries collected from 3-weekold females of HAW (white coat) and APA (albino) strains were transferred into ovarian bursae of 3-week-old recipient females with agouti-coat (Slc:Syrian) under anesthesia with xylazine and ketamine. Halves of ovaries of recipients were removed immediately before the transfers, i.e., both donor and recipient ovaries were present in each ovarian bursa. Successful transplantation of ovaries was checked by the coat color (non-agouti color) of offspring produced by test matings of recipients with Slc:Syrian males after the recipients became mature. Five and six recipients received HAW and APA ovaries, respectively. All 11 recipients tested became pregnant and delivered pups. According to the coat color of the pups, three of five recipients which received HAW ovaries and one of six recipients which received APA ovaries delivered pups derived from transplanted ovaries (two out of eight pups, one out of seven pups, and three out of 11 pups for HAW; one out of five pups for APA). Our results indicate that transplantation of fresh ovaries to foster mothers could be used for production of pups from grafted ovaries in the Syrian hamster. In particular, immunological tolerance for ovarian transfers among at least three strains suggests that recipient strains might not need to be the same as donor strains for practical ovarian transfers in the Syrian hamster. Our results would facilitate the development of a strain preservation system for the Syrian hamster based on ovarian cryopreservation. This work was supported by a grant from the Ministry of Health, Labor, and Welfare of Japan.

scholarly journals The Histopathology of Hereditary Congenital Deafness in White Mink

1965 ◽  
Vol 2 (3) ◽  
pp. 256-263
Author(s):  
L. Z. Saunders
Keyword(s):  
Guinea Pigs ◽  
Coat Color ◽  
Clinical Signs ◽  
Organ Of Corti ◽  
White Coat ◽  
Tectorial Membrane ◽  
Congenital Deafness ◽  
Histologic Study ◽  
Cochlear Duct ◽  
Reissner’S Membrane

A histologic study of white mink which showed clinical signs of congenital deafness revealed lesions in the cochlea. These were: bilateral degeneration of the organ of Corti and of the tectorial membrane, and alteration and collapse of Reissner's membrane with obliteration of the cochlear duct. Similar lesions have been reported in congenitally deaf dogs, cats, mice and guinea pigs. The condition is inherited along with the white coat color in the Hedlund strain of mink.

scholarly journals Holstein Friesian dairy cattle edited for diluted coat color as a potential adaptation to climate change

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
G. Laible ◽  
S.-A. Cole ◽  
B. Brophy ◽  
J. Wei ◽  
S. Leath ◽  
...  
Keyword(s):  
Dairy Cattle ◽  
Coat Color ◽  
Dilution Effect ◽  
White Coat ◽  
Adaptation To Climate Change ◽  
Black And White ◽  
Holstein Friesian ◽  
Coat Pattern ◽  
The Impact ◽  
First Time

Abstract Background High-producing Holstein Friesian dairy cattle have a characteristic black and white coat, often with large proportions of black. Compared to a light coat color, black absorbs more solar radiation which is a contributing factor to heat stress in cattle. To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. Results Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattle. Calves generated from cells with homozygous edits revealed a strong color dilution effect. Instead of the characteristic black and white markings of control calves generated from unedited cells, the edited calves displayed a novel grey and white coat pattern. Conclusion This, for the first time, verified the causative nature of the PMEL mutation for diluting the black coat color in cattle. Although only one of the calves was healthy at birth and later succumbed to a naval infection, the study showed the feasibility of generating such edited animals with the possibility to dissect the effects of the introgressed edit and other interfering allelic variants that might exist in individual cattle and accurately determine the impact of only the three bp change.

scholarly journals Determination of Percentage of White Coat Color from Registry Certificates in Holsteins

1992 ◽  
Vol 75 (12) ◽  
pp. 3582-3586 ◽  
Author(s):  
C.M. Becerril ◽  
C.J. Wilcox
Keyword(s):  
Coat Color ◽  
White Coat

scholarly journals Transformation of Measurements Percentage of White Coat Color for Holsteins and Estimation of Heritability

1994 ◽  
Vol 77 (9) ◽  
pp. 2651-2657 ◽  
Author(s):  
C.M. Becerril ◽  
C.J. Wilcox ◽  
G.R. Wiggans ◽  
K.N. Sigmon
Keyword(s):  
Coat Color ◽  
White Coat

Sequence analysis of three pigmentation genes in the Newfoundland population of Canis latrans links the Golden Retriever Mc1r variant to white coat color in coyotes

2013 ◽  
Vol 24 (3-4) ◽  
pp. 134-141 ◽  
Author(s):  
Ryan M. Brockerville ◽  
Michael J. McGrath ◽  
Brettney L. Pilgrim ◽  
H. Dawn Marshall
Keyword(s):  
Sequence Analysis ◽  
Coat Color ◽  
Canis Latrans ◽  
White Coat ◽  
Golden Retriever ◽  
Mc1r Variant

scholarly journals Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.

1996 ◽  
Vol 93 (2) ◽  
pp. 867-872 ◽  
Author(s):  
C. E. Gariepy ◽  
D. T. Cass ◽  
M. Yanagisawa
Keyword(s):  
Coat Color ◽  
White Coat ◽  
Receptor Type ◽  
Null Mutation ◽  
Endothelin Receptor ◽  
Type B
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