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An ectopic ureter is a congenital anomaly which may lead to urinary incontinence and without a surgical intervention even to end-stage kidney disease. A genetic component contributes to the development of this anomaly in Entlebucher mountain dogs (EMD); however, its nature remains unclear. Using the Illumina CanineHD bead chip, a case-control genome-wide association study was performed to identify SNPs associated with the trait. Six loci on canine chromosomes 3, 17, 27 and 30 were identified with 16 significantly associated SNPs. There was no single outstanding SNP associated with the phenotype, and the association signals were not close to known genes involved in human congenital anomalies of the kidney or lower urinary tract. Additional research will be necessary to elucidate the potential role of the associated genes in the development of ectopic ureters in the EMD breed.

The present report describes a 4-year-old Trakehner mare which was referred to the clinic for a breeding soundness evaluation. Clinical, histological, and postmortem examination revealed an underdeveloped genital tract, the absence of a cervix uteri, and small inactive ovaries without male gonadal tissue. Blood lymphocyte analysis revealed an unusual mosaic karyotype consisting of 2 cell lines. For the majority of cells (70%), monosomy X (63,X) was observed. The remaining cells (30%) contained 64 chromosomes including one X chromosome and a small rudimentary Y chromosome consisting mostly of heterochromatin. The centromere was retained, but its full functionality was questionable. PCR analysis revealed that the entire male-specific region of Y (Yq14), including the SRY gene, was deleted. It remained unclear if the pseudoautosomal region (Yq15) and parts of the heterochromatic region (Yq13) were affected by this deletion. The phenotype of the mare with this disorder of sex development associated with sex chromosome abnormalities is genetically comparable to 63,X monosomy which fully explains the clinical findings.

The present case report describes a female cotton-top tamarin which was taken over by the Zoo Basel to form a new breeding pair. The animal demonstrated increased marking behavior without any obvious medical reasons, dominant behavior, failure to become pregnant and its external genitals were ambiguous. A disorder of the sexual development (DSD) was suspected by the zoo veterinarians and in a first step, the chromosomes of the monkey were analyzed. Six cell lines with different karyotypes were observed. The two most frequent cell lines had a 46,XX or a 46,XY karyotype which are normal chromosome complements of female and male cotton-top tamarins, respectively. The other much less frequent cell lines showed numerical aberrations with and without a marker chromosome. Specific biological features of the Callitrichidae, such as natural twinning and genetic chimerism impeded the clarification of the pathogenesis and prevented a reliable prognosis on the fertility of the cotton-top tamarin.Dieser Fallbericht beschreibt ein als Weibchen registriertes Lisztäffchen (Saguinus oedipus), das vom Zoo Basel als Zuchttier übernommen wurde. Aufgrund häufigen Markierens ohne ersichtlichen medizinischen Grund, dominanten Verhaltens, fehlender Fruchtbarkeit und eines phänotypisch nicht eindeutigen äusseren Genitales wurde von den Zootierärzten die vorläufige Verdachtsdiagnose auf eine Störung der Geschlechtsentwicklung gestellt. In einem ersten Schritt wurden die Chromosomen des Äffchens untersucht. Es konnten 6 Zell-Linien mit unterschiedlichen Karyotypen nachgewiesen werden. Am häufigsten wurden die beiden Karyotypen 46,XX und 46,XY beobachtet, die für weibliche bzw. männliche Lisztäffchen normal sind. Die anderen weit weniger häufigen Zell-Linien wiesen numerische Veränderungen der diploiden Chromosomenzahl mit und ohne Marker-Chromosom auf. Biologische Besonderheiten der Krallenaffen, wie Mehrlingsträchtigkeit und genetischer Chimärismus erschwerten die Aufklärung der Pathogenese und verhinderten eine verlässliche Prognose zur Fruchtbarkeit des Lisztäffchens.

Made available in DSpace on 2020-12-12T01:07:41Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-02-01 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) In the past two decades, average litter size (ALS) in Entlebucher Mountain dogs decreased by approximately 0.8 puppies. We conducted a GWAS for ALS using the single-step methodology to take advantage of 1632 pedigree records, 892 phenotypes and 372 genotypes (173 662 markers) for which only 12% of the dogs had both phenotypes and genotypes available. Our analysis revealed associations towards the growth differentiation factor 9 gene (GDF9), which is known to regulate oocyte maturation. The trait heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS. Analysis of WGSs revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (−0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids. Department of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n International Atomic Energy Agency Collaborating Centre on Animal Genomics and Bioinformatics, Clóvis Pestana, 793 Department of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Clinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Eschikon 27 Clinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Winterthurerstr. 260 Institute of Genetics Vetsuisse-Faculty University of Bern, Bremgartenstrasse 109A Department of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Division of Livestook Sciences Department of Sustainable Agriculture System BOKU - University of Natural Resource and Live Sciences, Gregor-Mendel-Straße 33 Department of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n Department of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 Department of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793 FAPESP: 2016/05787-7 FAPESP: 2017/08373-1

Background In the past 10 years, the frequency of unplanned cesarean sections in the Labrador Retriever breeding colony at Guiding Eyes for the Blind stayed around 10% (range 5% to 28%). To reduce the number of cesarean sections, factors influencing the occurrence of a cesarean section need to be known. The goal of this study was to identify factors that contribute to the decision to perform a cesarean section. Results Of the 688 Labrador Retriever litters whelped between 2003 and 2016, 667 litters had sufficient data and remained in the analysis. The target trait was ordinal with the three levels “normal whelping”, “assisted whelping” and “cesarean section”. A general ordinal logistic regression approach was used to analyze the data. Model selection with possible predictors resulted in a final model including weight of the dam, the weight of the heaviest puppy of a litter, the number of fetuses malpositioned and the quality of uterine contractions. Weight and size of a litter, parity, maternal inbreeding coefficient, whelping season, dam and sire were dropped from the model because they were not significant. The risk of a cesarean section was influenced by the combination of the weight of the dam and the weight of the heaviest puppy in the litter, as well as by the number of malpositioned fetuses and the quality of the contractions. Larger puppies increased the risk of cesarean section especially when the dam had a lighter weight. For dams weighing 23.6 kg and 32.8 kg the predicted probability of a cesarean section was low, with 0.06 and 0.02, respectively, when the heaviest puppy in a litter was light (0.42 kg), contractions were normal and no fetus was malpositioned. However, the probability of a cesarean section was much higher, ranging from 0.24 to 0.08, when the heaviest puppy in a litter was heavy (0.66 kg). Conclusions Means to reduce the cesarean section frequency in this Labrador Retriever breeding colony should include genetic selection for ideal puppy weight. In addition, dams with an adult body weight substantially below average should not be selected as breeders in this colony. Electronic supplementary material The online version of this article (10.1186/s12917-018-1381-8) contains supplementary material, which is available to authorized users.

The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.Der vorliegende Fallbericht beschreibt eine 6 Jahre alte subfertile Stute der Rasse Ponystute, die erst nach der elften künstlichen Besamung tragend wurde. Die klinische Untersuchung der Ovarien und des Uterus waren ohne besonderen Befund und die Stute zeigte einen regelmässigen Zyklus. Aufgrund von zytogenetischen und molekulargenetischen Untersuchungen wurde es möglich, eine plausible Ursache für die Subfertilität zu ermitteln. Der Karyotyp der Ponystute setzte sich aus zwei Zelllinien zusammen: In 20% der Zellen wurde eine Monosomie X nachgewiesen (63,X) und in 80% der Zellen war der Karyotyp normal (64,XX). Eine PCR-Analyse für den Nachweis von Sequenzen des equinen SRY Gen war negativ. Es handelte sich also um einen klassischen Fall einer mosaiken Form von Monosomie X, die eine offensichtliche Erklärung für die Subfertilität der Stute liefert.

Numerical and structural aberrations of chromosomes may cause malformations, embryonal losses and reduced or missing fertility. In male horses the fertility is rather well controlled through their semen evaluation. For mares there are no mandatory regulations which specify their use in a breeding programme. Therefore, mares with chromosomal aberrations, which exclude reproduction success may be chosen for breeding. The present case describes a horse, offically registered as a female, which was presented for a breeding exam. On this occasion, small and inactive ovaries were diagnosed. Although the cytogenetical analysis excluded a numerical or gross structural chromosome aberration, the karyotype (64,XY) corresponded to the male sex. The diagnosis male to female sex-reversal (SRY-negative) excludes reproductive success for this horse. This case underlines the importance of a cytogenetic analysis for female horses, before they enter a breeding programme.

Belted cattle have a circular belt of unpigmented hair and skin around their midsection. The belt is inherited as a monogenic autosomal dominant trait. We mapped the causative variant to a 54 kb segment on bovine chromosome 3. Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of theTWIST2gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 239 cases and 1303 controls (p = 1.3 x 10-278). We hypothesized that the CNV causes aberrant expression ofTWIST2during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovineTWIST2in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers. Our results thus implicate an unsuspected involvement of TWIST2 in regulating pigmentation and reveal a non-coding CNV underlying a captivating Mendelian character.Author SummaryBelted cattle, a spontaneous coat color mutant, have been recognized at least 600 years ago. The striking pigmentation pattern probably has arisen in medieval cattle of the Alpine region. The belt still segregates in Brown Swiss cattle and it has become a breed-defining character in the Lakenvelder or Dutch Belted cattle. The belted allele has also been introgressed into Galloways to form the Belted Galloways. We report here the causative genetic variant, a non-coding copy number variant (CNV) upstream of theTWIST2gene. We hypothesize that the CNV leads to ectopic expression of TWIST2 in the neural crest, which negatively affects melanocyte development. Overexpression of bovine TWIST2 in transgenic zebrafish embryos led to a decrease in melanocyte numbers, which provides functional support for our hypothesis.

The present case report describes a stray cat with a female appearance. The new owners requested to neuter the animal. During surgery the veterinarian could not find any gonadal tissue. After puberty the cat showed more and more male behaviour. The owners of the cat were interested to know the cause of the abnormal behaviour, but forbid any further clinical tests or surgery. Based upon cytogenetic and molecular genetic experiments a diagnosis became possible. The uniform karyotype (38,XY) was in accordance with the karyotype of a male cat and it was possible to amplify the SR Y gene by PCR. The cat represents a case of SRYpositive sex reversal.

A 23-month-old tomcat was referred to our clinic because of male behavioral problems, cryptorchidism, and an undefined intra-abdominal organ resembling a uterus. Ultrasonography and computed tomography showed 2 fluid-filled tubular structures dorsolaterally to the bladder and connected to the pelvic urethra. The cat was castrated, and the tubular structures were surgically removed. Histology identified them as Müllerian duct remnants. The testes were hypoplastic, the epididymes and deferent ducts were normal. Cytogenetic analyses revealed the presence of a mosaic 37,X/38,XY karyotype which explains the clinical findings.

The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.

The dopamine D2 receptor (DRD2) and serotonin receptors 1D (HTR1D) are candidate genes for behavioural traits. In the present study, we show chromosomal location and polymorphism of these genes in four species from the family Canidae: dog (CFA), red fox (VVU), arctic fox (ALA) and the Chinese raccoon dog (NPP). Using fluorescence in situ hybridisation (FISH) the DRD2 gene was localized in the following chromosomes: CFA5q12-13, VVU12q21, ALA10q14 and NPP3q14 and the HTR1D gene was mapped to: CFA2q25, VVU2q22, ALA8q25 and NPP10q25. A microsatellite marker (TG)n in intron 3 of the DRD2 gene and (CA)n motif located in a 3’-flanking region of the HTR1D gene were polymorphic in all studied species. The obtained results can be helpful in further studies on effects of polymorphisms of these genes on behaviour traits in canids.

The insulin-like factor 3 (INSL3 or relaxin-like factor) is a hormone produced mainly in gonadal tissues in males and females. Deletion of INSL3 or its receptor in male mice leads to the undescended testes, or cryptorchidism. Here we describe an isolation and analysis of full-length canine INSL3 gene. The INSL3 gene is composed of two exons within a small genomic region. Putative translation of the isolated cDNA yields 132 amino acid preproINSL3 that has the domain structure characteristic for the insulin-relaxin peptide superfamily with a well-conserved receptor-binding domain. Northern blot hybridization showed stronger expression of INSL3 in testis than in ovary. Reverse transcription-polymerase chain reaction analysis of the INSL3 expression revealed a minor splice variant of INSL3 potentially encoding 105 amino acids peptide. We established that the medium, conditioned with recombinant canine INSL3, produced from the full-length cDNA, but not from the minor splice variant, activated human GREAT/LGR8 receptor in vitro. In addition to the functional allele of INSL3, genomic DNA of one of the analyzed dogs contained an intronless nonexpressed pseudogene of INSL3. We isolated canine INSL3 promoter and showed that its activity was strongly mediated by steroidogenic factor-1 in vitro. Using site-specific mutagenesis, we identified a well-conserved steroidogenic factor-1 binding site within canine INSL3 promoter.

Belted cattle have a circular belt of unpigmented hair and skin around their midsection. The belt is inherited as a monogenic autosomal dominant trait. We mapped the causative variant to a 37 kb segment on bovine chromosome 3. Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression of TWIST2 during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovine TWIST2 in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers. Our results thus implicate an unsuspected involvement of TWIST2 in regulating pigmentation and reveal a non-coding CNV underlying a captivating Mendelian character.

Hereditary footpad hyperkeratosis (HFH) represents a palmoplantar hyperkeratosis, which is inherited as a monogenic autosomal recessive trait in several dog breeds, such as e.g. Kromfohrländer and Irish Terriers. We performed genome-wide association studies (GWAS) in both breeds. In Kromfohrländer we obtained a single strong association signal on chromosome 5 (praw = 1.0×10−13) using 13 HFH cases and 29 controls. The association signal replicated in an independent cohort of Irish Terriers with 10 cases and 21 controls (praw = 6.9×10−10). The analysis of shared haplotypes among the combined Kromfohrländer and Irish Terrier cases defined a critical interval of 611 kb with 13 predicted genes. We re-sequenced the genome of one affected Kromfohrländer at 23.5× coverage. The comparison of the sequence data with 46 genomes of non-affected dogs from other breeds revealed a single private non-synonymous variant in the critical interval with respect to the reference genome assembly. The variant is a missense variant (c.155G>C) in the FAM83G gene encoding a protein with largely unknown function. It is predicted to change an evolutionary conserved arginine into a proline residue (p.R52P). We genotyped this variant in a larger cohort of dogs and found perfect association with the HFH phenotype. We further studied the clinical and histopathological alterations in the epidermis in vivo. Affected dogs show a moderate to severe orthokeratotic hyperplasia of the palmoplantar epidermis. Thus, our data provide the first evidence that FAM83G has an essential role for maintaining the integrity of the palmoplantar epidermis., Author Summary The palms and soles of mammals are covered by the palmoplantar epidermis, which has to bear immense mechanical forces and has therefore a special composition in comparison to the epidermis on regular skin. We studied a Mendelian disease in dogs, termed hereditary footpad hyperkeratosis (HFH). HFH affected dogs develop deep fissures in the paw pads, which are the consequence of a pathological thickening of the outermost layer of the epidermis. We mapped the disease causing genetic variant in the Kromfohrländer and Irish Terrier breeds to a 611 kb interval on chromosome 5. HFH affected Kromfohrländer and Irish Terriers shared the same haplotype indicating descent from a common founder. We re-sequenced the genome of an affected dog and compared it to genome sequences of 46 control dogs. The HFH affected dog had only one private non-synonymous variant in the critical interval, a missense variant of the FAM83G gene. We genotyped this variant in more than 500 dogs and found perfect association with the HFH phenotype. Our data very strongly suggest that the FAM83G variant is causative for HFH. FAM83G is a protein with unknown biochemical function. Our study thus provides the first link between this protein and the palmoplantar epidermis.

To test the hypothesis of a heritable base of ectopic ureters (EU) in Entlebucher Mountain Dogs (EMD) and to elucidate associated risk factors and mode of inheritance of the disease, 565 EMD were clinically investigated and population genetic analyses performed. Based on the location of the most caudal termination of the ureteral openings, 552 EMD were classified into three phenotype groups trigone, intravesically and extravesically ectopic based on results of abdominal sonography, urethra-cystoscopy and/or contrast-enhanced computed tomography. One-third (32.9%) of the phenotyped animals had normal terminations of both ureters in the bladder trigone, 47.3% had at least one intravesicular ectopic termination and 19.8% had at least one extravesicular ectopic termination. Multivariate mixed logistic regression revealed gender as a risk factor associated with EU as males were more often affected than females. Complex segregation analysis indicated a hereditary basis for EU in EMD and the involvement of a major gene in the occurrence of the extravesicular EU phenotype.

Melanoma is a disease with high incidence in gray horses and has limited therapeutic options in metastatic disease. Gene therapy has shown some success in animal models and human patients. A randomized double-blind, placebo-controlled study was conducted to investigate 2 treatment options using cytokine-encoding plasmid DNA in horses with metastatic melanoma to induce immunologic antitumor effects. Adult gray horses with spontaneously occurring metastatic melanoma (n=26) were included in the study. Treatment of 26 gray horses with metastatic melanoma consisted of interleukin-18-encoding plasmid DNA, interleukin-12-encoding plasmid DNA, or empty plasmid DNA (control group), injected intratumorally, respectively. Tumor response was assessed using ultrasound and caliper measurements and histologic assessment of tumor biopsies. Significant tumor regression could be shown in both the treatment groups receiving IL-18 and IL-12-encoding plasmid DNA whereas placebo-treated control patients showed tumor growth over the course of the treatment. In addition, 7 of 10 tumors from horses treated with IL-18 or IL-12 showed peritumoral and/or intratumoral inflammatory infiltrates after treatment compared with 1 of the 6 in the control group. The treatment as assessed by serial blood draws and clinical investigation, was safe and well tolerated. These data suggest that the intratumoral treatment with IL-18 and IL-12-encoding plasmid DNA has antitumor effects, which is well tolerated and thus holds promise for the treatment of patients with metastatic melanoma.

Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse ( Equus caballus ) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype — 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100–300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.

Background: Chromosomal translocations affecting the chromosome 2p21 cluster in a 450 kb breakpoint region are frequently observed in human benign thyroid adenomas. THADA (thyroid adenoma associated) was identified as the affected gene within this breakpoint region. In contrast to man tumours of the thyroid gland of dogs (Canis lupus familiaris) constitute mainly as follicular cell carcinomas, with malignant thyroid tumours being more frequent than benign thyroid adenomas. In order to elucidate if the THADA gene is also a target of chromosomal rearrangements in thyroid adenomas of the dog we have physically mapped the canine THADA gene to canine chromosome 10. A PCR was established to screen a canine genome library for a BAC clone containing the gene sequence of canine THADA. Further PCR reactions were done using the identified BAC clone as a template in order to verify the corresponding PCR product by sequencing. Canine whole blood was incubated with colcemid in order to arrest the cultured cells in metaphases. The verified BAC DNA was digoxigenin labeled and used as a probe in fluorescence in situ hybridization (FISH). Ten well spread metaphases were examined indicating a signal on canine chromosome 10 on both chromatids. A detailed fine mapping was performed indicating the canine THADA gene locus on the q-arm of chromosome 10. Results: The canine THADA gene locus was mapped on chromosome 10q25. Our mapping results obtained in this study following the previously described nomenclature for the canine karyotype. Conclusion: We analysed whether the THADA gene locus is a hotspot of canine chromosomal rearrangements in canine neoplastic lesions of the thyroid and in addition might play a role as a candidate gene for a possible malignant transformation of canine thyroid adenomas. Although the available cytogenetic data of canine thyroid adenomas are still insufficient the chromosomal region to which the canine THADA has been mapped seems to be no hotspot of chromosomal aberrations seen in canine thyroid adenomas., Molecular Cytogenetics, 1, ISSN:1755-8166

Since 1956, when the Basle Zoo (Switzerland) initiated the breeding of lesser kudu (Tragelaphus imberbis), 43% of the lesser kudu juveniles died before reaching an age of 6 mo. In this study, the objective was to obtain the pathological findings, nutritional history, and family tree information in order to evaluate the influence of husbandry on juvenile mortality in these animals. The main cause of death was white muscle disease (WMD), diagnosed in 14 cases (26%) of the deceased juveniles. Although enclosure size had remained constant and animal accessibility to the public was constantly high, both herd size and juvenile mortality had increased from 1956–2004. The diet consumed by the whole group in 2004 had deficient levels of vitamin E and selenium. The increasing linear trend of the mortality rate since the 1960s was significant, and there was a significant correlation between herd size and overall juvenile mortality. In contrast, there was no correlation between herd size and the occurrence of juvenile mortality associated specifically with WMD. Other investigated factors (sex, inbreeding, and season) had no significant effect on overall mortality up to 6 mo of age or on mortality associated with WMD. These results characterize both a dietary and a husbandry problem, and are supported by a lack of similar juvenile mortality in another facility where the diet was supplemented with vitamin E, animal numbers were kept low, and the enclosure structure offered more retreat options for the animals.

The present study shows new chromosomal localisation of four canine cosmid clones in the Chinese raccoon dog genome by using dual colour FISH. This approach facilitates rapid physical localisation of markers and will improve the determination of their order on chromosomes. The present new assignments increase the number of physically mapped markers in the Chinese raccoon dog to 25.

Rapid development of the canine marker genome map facilitates genome mapping of other Canidae species. In this study we present chromosomal localization of 18 canine-derived cosmid probes containing microsatellites in the arctic fox (Alopex lagopus) and Chinese raccoon dog (Nyctereutes procyonoides procyonoides) genomes by the use of fluorescence in situ hybridization (FISH). The chromosome localizations in the arctic fox are in general agreement with data obtained from comparative genome maps of the dog and the fox. However, our studies showed that the order of the loci on some chromosomes was changed during karyotype evolution. Therefore, we suggest that small intrachromosomal rearrangements took place.

Skin Ca2+-binding protein (SCaBP) was reported to be distinct from the Ca2+-binding parvalbumin (PV), however, more recently its amino acid sequence was shown to be identical to PV. We purified a protein (Mr 12 000; pI4.5) from isolated epidermis (free of other cell layers) of adult rats and whole skin (containing no PV) of newborn rats. This protein is referred to as epidermal protein (EP-12), distinct from PV in its hydrophobicity, amino acid composition and immunological properties. Previously isolated SCaBP was shown to be a mixture of EP-12 and PV. The localization and possible functions of EP-12 and of PV in skin of adult and newborn rat are discussed.