Genetic testing for feline polycystic kidney disease

Grahn, Robert A.; Biller, D.; Young, Amy; Roe, Bruce A.; Qin, Biafang; Lyons, Leslie A.

doi:10.1111/j.1365-2052.2004.01213.x

Cited by 16 publications

(11 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Pigmented cats that produced albino offspring were assumed to be obligate carriers of the complete albinism allele. Microsatellite FCA931 , which is linked to TYR ( Menotti-Raymond et al 1999 , 2003 ), was genotyped as previously described ( Grahn et al 2004 ), and the alleles were tested for concordant segregation with the colour phenotypes.…”

mentioning

confidence: 99%

Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

et al. 2006

Self Cite

View full text Add to dashboard Cite

SummaryAlbino phenotypes are documented in a variety of species including the domestic cat. As albino phenotypes in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats. An Oriental and Colourpoint Shorthair cat pedigree segregating for albinism was analysed for association with TYR by linkage and sequence analyses. Microsatellite FCA931, which is closely linked to TYR and TYR sequence variants were tested for segregation with the albinism phenotype. Sequence analysis of genomic DNA from wild-type and albino cats identified a cytosine deletion in TYR at position 975 in exon 2, which causes a frame shift resulting in a premature stop codon nine residues downstream from the mutation. The deletion mutation in TYR and an allele of FCA931 segregated concordantly with the albino phenotype. Taken together, our results suggest that the TYR gene corresponds to the colour locus in cats and its alleles, from dominant to recessive, are as follows: C (full colour) > c b (burmese) P c s (siamese) > c (albino).

show abstract

mentioning

confidence: 99%

Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

et al. 2006

Self Cite

View full text Add to dashboard Cite

show abstract

“…Neva Masquerade) was diagnosed with polycystic kidney disease based on signs of renal disease (polydipsia, polyuria) and ultrasonography. DNA was submitted using buccal swabs and a whole blood sample to two different commercial testing laboratories in which both confirmed the absence of the currently known autosomal dominant polycystic kidney disease in polycystin-1 (PKD1) 44,45 . The dam and a sibling were also confirmed as having PKD by ultrasonography but we not available for genetic analyses.…”

Section: Methodsmentioning

confidence: 89%

A domestic cat whole exome sequencing resource for trait discovery

Rodney

Buckley

Fulton

et al. 2020

Preprint

View full text Add to dashboard Cite

Over 94 million domestic cats are considered pets, who, as our companions, are also susceptible to cancers, common and rare diseases. Whole exome sequencing (WES) is a cost-effective strategy to study their putative disease-causing variants. Presented is ~35.8 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, covering 201,683 regions of the cat genome. WES was conducted on 41 cats from various breeds with known and unknown diseases and traits, including 10 cats with prior whole genome sequence (WGS) data available, to test WES capture probe performance. A WES and WGS comparison was completed to understand variant discovery capability of each platform. At ~80x exome coverage, the percent of on-target base coverage >20x was 96.4% with an average of 10.4% off-target. For variant discovery, greater than 98% of WGS SNPs were also discovered by WES. Platform specific variants were mainly restricted to a small number of sex chromosome and olfactory receptor genes. Within the 41 cats with ~31 diseases and normal traits, 45 previously known disease or trait causal variants were observed, such as Persian progressive retinal degeneration and hydrocephalus. Novel candidate variants for polycystic kidney disease and atrichia in the Peterbald breed were also identified as well as a new cat patient with a known variant for cystinuria. These results show the discovery potential of deep exome sequencing to validate existing disease gene models and identify novel gene candidate alleles for many common and rare diseases in cats.

show abstract

“…Beietwa85% der humanenADPKD-Patienten wurde das PKD1-Gen auf Chromo-som16p alsTrägerder Mutation identifiziert.Das Repertoireder gefundenenP KD1-Mutationen ists ehrgroß und zumT eilk ommen bestimmte Mutationen nur in einzelnenFamilienvor.Defekte desP KD2-Gens auf Chromosom 4s ind mit 10-15% der ADPKD-Fällea ssoziiert.E sg ibt eine Reihe weitererG ene, die für dasAuftreten derADPKD der verbleibendenP atientenv erantwortlichg emachtw erden ( 13). DurchK opplungsanalysen wurde auch beid er Perserkatze dasP KD1-Gen auf Chromo-somE3als Kandidatengen identifiziert (10,12,15…”

Section: /Katzeunclassified

Das polyzystische Syndrom in der deutschen Perserkatzenpopulation

Kappe¹,

Hecht²,

Gerwing³

et al. 2005

Tierarztl Prax Ausg K

View full text Add to dashboard Cite

Zusammenfassung Gegenstand und Ziel: Diese Studie untersuchte das Auftreten einer kürzlich beschriebenen Punktmutation in Form einer C→A-Transversion im Exon 29 des felinen PKD1-Gens in einer Stichprobe der deutschen Perserkatzenpopulation und bei einigen Katzen der Rasse Exotic Shorthair. Diese Mutation führt über ein zusätzliches Stopcodon zum frühzeitigen Abbruch der Proteinkette des Proteins Polycystin. Damit ist sie vermutlicher Auslöser der meisten Fälle des polyzystischen Syndroms (Polycystic Kidney Disease, PKD) bei Perserkatzen. Material und Methoden: Die Untersuchung erfolgte an DNA-Proben von 116 zum Teil miteinander verwandten Perser- und sieben Exotic-Shorthair-Katzen, die im Vorfeld mittels Ultraschall auf die Erkrankung PKD untersucht wurden. Infolge der Punktmutation entsteht eine neue Schnittstellen für das Restriktionsenzym Mly I. Durch eine Restriktionsfragmentanalyse kann das Wildtypallel vom mutierten Allel unterschieden werden. Ergebnisse: Keine der 58 sonographisch zystenfreien Katzen erwies sich als Träger der Mutation. Bei 95% der Perserkatzen mit Nierenzysten und bei allen zystenpositiven Exotic-Shorthair-Tieren war die untersuchte Mutation vorhanden. Damit stimmen die Ergebnisse der Ultraschalluntersuchung und des Gentests zu 97,4% überein. Alle Träger der Mutation waren heterozygot für dieses Merkmal. Schlussfolgerungen: Die Ergebnisse weisen darauf hin, dass es sich bei der untersuchten Mutation um den tatsächlichen Auslöser des polyzystischen Syndroms handelt. Die homozygot vererbte Mutation scheint ein Letalfaktor zu sein, denn homozygote Merkmalsträger wurden nicht beobachtet. Bei 5% der untersuchten Perserkatzen mit Nierenzysten lag keine Mutation in Exon 29 des PKD1-Gens vor. In solchen Fällen kann jedoch eine Mutation an anderer Stelle nicht mit Sicherheit ausgeschlossen werden.

show abstract

Genetic testing for feline polycystic kidney disease

Cited by 16 publications

References 10 publications

Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

A domestic cat whole exome sequencing resource for trait discovery

Das polyzystische Syndrom in der deutschen Perserkatzenpopulation

Contact Info

Product

Resources

About