A novel mutation in the TYRP1 gene associated with brown coat colour in the Australian Shepherd Dog Breed

2017 ◽  
Vol 48 (5) ◽  
pp. 626-626 ◽  
Author(s):  
Evelina Hrckova Turnova ◽  
Zuzana Majchrakova ◽  
Marcela Bielikova ◽  
Katarina Soltys ◽  
Jan Turna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Coat Colour ◽  
Dog Breed

Inheritance of different coat colours in Newfoundland dogs in Poland

2019 ◽  
Vol 15 (1) ◽  
pp. 17-28
Author(s):  
Maciej Ziółkowski ◽  
Agnieszka Redlarska ◽  
Katarzyna Adamus-Fiszer ◽  
Joanna Kania-Gierdziewicz
Keyword(s):  
Coat Colour ◽  
The Other ◽  
Black And White ◽  
Dog Breed ◽  
Dominant Black

The aim of the study was to present the manner in which coat colour genes are inherited in the Newfoundland dog breed and to estimate the number of dogs with various coat colours in the Polish Newfoundland dog population in 2017. This population numbered 656 dogs, including 248 males and 408 females. The estimated number of dogs of this breed also included all registered puppies, broken down by gender and coat colour. The genes determining coat colour are described, including more precisely the genes responsible for the coat colour of the Newfoundland breed. According to FCI regulations, the coat colours for Newfoundland dogs are black, brown and black-and-white. Other colours, such as brown-and-white or blue, are not recognized for breeding purposes in Europe. The study found that the dominant black coat was predominant in the Polish Newfoundland dog population in 2017. These dogs could be heterozygous at some other loci and have undesirable alleles. The second most common coat colour was chocolate, while the fewest dogs had spotted coats. The group with spotted coats contained more males than females, in contrast to the other two colour variants. There were also individuals with the blue coat colour, which is not accepted for breeding, as the result of mating of parents with proper coat colours. An understanding of how dog coat colours are inherited and the need for tests to determine coat colour genotypes would make it possible to foresee the occurrence of incorrect colours in subsequent generations, which is crucial for Newfoundland dog breeders, whose goal is to obtain dogs whose coat colour is in line with the FCI standard.

scholarly journals Merle allele variations in the Mudi dog breed and their effects on phenotypes

2019 ◽  
Vol 67 (2) ◽  
pp. 159-173 ◽  
Author(s):  
Zsófia Pelles ◽  
András Gáspárdy ◽  
László Zöldág ◽  
Xénia Lénárt ◽  
Nóra Ninausz ◽  
...  
Keyword(s):  
Coat Colour ◽  
Practical Significance ◽  
Pigment Cells ◽  
Colour Pattern ◽  
Sample Collection ◽  
Fragment Analysis ◽  
Sine Insertion ◽  
Dog Breed ◽  
Exact Size ◽  
Auditory Impairments

A retrotransposon insertion in the SILV gene is associated with a peculiar phenotype of dog, known as a merle. It is characterised by various areas of their coat colour becoming diluted due to a malfunction in the eumelanin-producing pigment cells. Recent studies have shown that the exact size of the short interspersed element (SINE) insertion is in correlation with specific phenotypic attributes, but was not able to absolutely confine dogs to a certain colour pattern. Our study focused on the merle variations occurring in the Mudi breed. Altogether, 123 dog samples from 11 countries were tested and genotyped. The exact length of the merle alleles were determined by automated fluorescent capillary fragment analysis. The most frequent merle genotype in this Mudi sample collection was the ‘classic’ merle (m/M: 61.8%), whereas other variants, such as atypical (m/Ma and m/Ma+: 5.7%), harlequin (m/Mh: 13.8%), double merle (M/M: 0.8%) and mosaic profiles (17.9%) were also observed. The practical significance of testing this mutation is that, phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous ‘double merle’ progeny with ophthalmologic, viability and auditory impairments.

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

A NOVEL MUTATION IN THE SCO2 GENE IN A NEONATE WITH FATAL INFANTILE CARDIOENCEPHALOMYOPATHY AND COX DEFICIENCY

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
C Bellini ◽  
D Cassandrini ◽  
C Savioli ◽  
D Massocco ◽  
M Marasini ◽  
...  
Keyword(s):  
Novel Mutation

A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

2014 ◽  
Author(s):  
Adi Reich ◽  
Charles R Farber ◽  
Aileen M Barnes ◽  
Patricia Becerra ◽  
Frank Rauch ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation
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