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White Phenotype (white + phenotype)
Selected AbstractsSeven novel KIT mutations in horses with white coat colour phenotypesANIMAL GENETICS, Issue 5 2009B. Haase Summary White coat colour in horses is inherited as a monogenic autosomal dominant trait showing a variable expression of coat depigmentation. Mutations in the KIT gene have previously been shown to cause white coat colour phenotypes in pigs, mice and humans. We recently also demonstrated that four independent mutations in the equine KIT gene are responsible for the dominant white coat colour phenotype in various horse breeds. We have now analysed additional horse families segregating for white coat colour phenotypes and report seven new KIT mutations in independent Thoroughbred, Icelandic Horse, German Holstein, Quarter Horse and South German Draft Horse families. In four of the seven families, only one single white horse, presumably representing the founder for each of the four respective mutations, was available for genotyping. The newly reported mutations comprise two frameshift mutations (c.1126_1129delGAAC; c.2193delG), two missense mutations (c.856G>A; c.1789G>A) and three splice site mutations (c.338-1G>C; c.2222-1G>A; c.2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species. [source] Importance of Cryphonectria parasitica stromata production and intermediate-pigmented isolates in spread of Cryphonectria hypovirus 1 on grafted American chestnut treesFOREST PATHOLOGY, Issue 5 2008E. P. Hogan Summary Large, surviving American chestnut trees, grafted in 1980, were inoculated in 1982 and 1983 with four ,white' European (French and Italian) hypovirulent strains of Cryphonectria parasitica infected with Cryphonectria hypovirus 1 (CHV1). Spread of Italian CHV1-Euro7, indicated by nucleotide sequence analysis of CHV1 isolates, and a high level of blight control, occurred on these trees for over 20 years. However, the means by which CHV1 spreads and the possible role of stromata production in that spread are unknown. In this study, 249 C. parasitica isolates were recovered from stromata excised from natural cankers on the grafted trees and plated on an agar medium; 5.2% of the stromata yielded white phenotype isolates, 9.2% yielded intermediate-pigmented isolates (30,70% pigmentation) and the remainder were normal-pigmented isolates. For comparison, cankers artificially established on blight-free, forest-clear-cut American chestnut trees, following inoculation with three Italian white hypovirulent strains, were evaluated in a similar manner. Of 241 C. parasitica isolates recovered from stromata, 66.4% had a white colony phenotype, 19.1% had an intermediate-pigmented phenotype and the remainder were normal-pigmented isolates. For single conidia collected from stromata and plated, nearly equal frequencies of only white and intermediate-pigmented colony phenotypes were obtained. Following dsRNA extraction and electrophoresis, 21 of 33 intermediate-pigmented isolates were positive for CHV1. Some normal pigmented isolates also were positive for CHV1. Single-sporing a CHV1-positve, normal-pigmented, natural-canker, stroma isolate (Str 1) from the grafts resulted in several deeply red-orange pigmented (JR) isolates as well as some white isolates. The dsRNA in the JR isolate was extracted and cDNAs made by reverse transcriptase-polymerase chain reaction (RT-PCR) for part of a region (p29) in ORF A. Nucleotide sequencing indicated 100% identity to CHV1 present in the inoculated Italian white strain, Ep 47. The results indicate that stromata production on the grafted trees may contribute to CHV1 spread, and the presence of CHV1 in intermediate-pigmented isolates and some normal pigmented isolates indicates these isolates, often overlooked, may be important in CHV1 spread and the high level of blight control on the grafted trees. [source] Genetic mapping of dominant white (W), a homozygous lethal condition in the horse (Equus caballus)JOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 6 2004C. Mau Summary Dominant white coat colour (W) is a depigmentation syndrome, known in miscellaneous species. When homozygous in the horse (similar in mice), the mutation responsible for the white phenotype is lethal in a very early stage of gestation. It seems, that the action of the dominant white allele is not always fully penetrant, resulting occasionally in spotted look alike offspring. These horses resemble a coat colour pattern known as sabino spotting. So far, it is not known whether dominant white (W) and sabino spotting (S) share a common genetic background. In this study, a pedigree consisting of 87 horses segregating for dominant white (W) was used to genetically localize the horse (W)-locus. Microsatellite ASB23 was found linked to (W), which allowed us to map dominant white to a region on horse chromosome 3q22. Tyrosine kinase receptor (KIT) was previously mapped to this same chromosome region (3q21,22). KIT and its ligand (KITLG) are responsible for the normal function of melanogenesis, haematopoiesis and gametogenesis. So far, sequence analysis of different KIT gene fragments did not lead to new polymorphisms, except for a SNP detected in KIT intron 3 (KITSNPIn3). Additional microsatellites from ECA3q (TKY353 and LEX7), together with KITSNPIn3 allowed us to state more precisely the (W)-mutation. The positional results and comparative functional data strongly suggest that KIT encodes for the horse (W)-locus. Zusammenfassung Die dominant weisse Fellfarbe (W) ist eine Form der Depigmentierung, die bei vielen Spezies auftritt. Beim Pferd wirkt die Mutation für Dominant Weiss (W) in homozygoter Form (analog zur Maus), bereits in einem sehr frühen Stadium der Trächtigkeit letal. Es scheint, dass die Wirkung des dominant weissen Allels nicht immer mit vollständiger Penetranz erfolgt. Dies führt gelegentlich zu Nachkommen mit einer Art Schecken-Fellzeichnung. Solche Pferde sind phänotypisch mit den sogenannten ,,Sabino-Schecken,, vergleichbar. Es ist bis jetzt nicht bekannt ob Dominant Weiss (W) und Sabino-Scheckung (S) einen gemeinsamen genetischen Hintergrund besitzen. Mittels eines Pedigrees aus 87 Pferden, in dem Dominant Weiss (W) segregiert, konnte in der vorliegenden Studie der equine (W)-Locus genetisch lokalisiert werden. Der Mikrosatellit ASB23 erwies sich als gekoppelt mit (W) und ermöglichte die Zuweisung des (W)-Locus auf eine Region von Chromosom ECA 3q22. Das Gen für den Tyrosinkinaserezeptor (KIT) liegt ebenfalls in dieser Chromosomenregion (3q21,22). Das KIT -Gen ist zusammen mit dem KIT -Liganden (KITLG) verantwortlich für einen normal funktionierenden Ablauf der Melanogenese, Hämatopoese und Gametogenese. Die direkte Sequenzierung von KIT -Genfragmenten führte bis jetzt zu keinen neuen Polymorphismen, ausser einem SNP in KIT Intron 3 (KITSNPIn3). Mittels weiterer Mikrosatelliten von ECA3q (TKY353 and LEX7) sowie KITSNPIn3 gelang es, die (W)-Mutation genauer zu positionieren. Die vorliegenden Lokalisierungsresultate und vergleichende funktionelle Erkenntnisse deuten stark darauf hin, dass KIT für den Pferde (W)-Locus kodiert. [source] Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparisonANIMAL GENETICS, Issue 6 2009F. Minvielle Summary The absorbance of melanin content from dorsal feathers was compared between wild-type Japanese quail and nine other quail plumage colours determined by single mutations in one of seven genes: extended brown (MC1R), yellow (ASIP), silver (MITF), lavender (MLPH), roux (TYRP1), imperfect albinism (SLC45A2) and rusty. As compared with wild-type quail, all mutations but extended brown decreased total melanins. The largest decrease was observed in quail with one of the dilution mutations at TYRP1, MLPH or SLCA45A2. No difference in eumelanins was found between the 10 plumage colours. Despite visible colour differences, homozygous and heterozygous mutants at MITF, or the two imperfect albino (white) and cinnamon (pale yellow) alleles at SLC45A2, could not be differentiated on the basis of melanins. In contrast, the two white phenotypes caused by mutations at MITF and SLC45A2, or the two reddish plumage colours caused by the roux and rusty non-allelic mutations had different total melanin contents. The results showed that rusty was not likely to be a dilution mutation. [source] | ||||||||||