Comparative chromosomal localization of the canine-derived BAC clones containing LEP and IGF1 genes in four species of the family Canidae

Szczerbal, Izabela; Rogalska-Niznik, N.; Klukowska, J.; Schelling, C.; Dolf, G.; Świtoński, M.

doi:10.1159/000075760

Cited by 13 publications

(11 citation statements)

References 10 publications

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“…Cytogenetic evaluation was conducted by conventional Giemsa staining and FISH technique according to a standard protocol [Szczerbal et al, 2003] with chromosome-painting probes specific to canine sex chromosomes (Cambio). A detailed FISH study of the CNVR upstream of the SOX9 gene was carried out with the use of 2 BAC probes described by Marcinkowska-Swojak et al [2015], namely BAC-3 (CH82-26L13; region CanFam2: 10811269-10976339) and a control BAC-5 (CH82-116C01; region CanFam2: 11188441-11355532) (online suppl.…”

Section: Cytogenetic Analysismentioning

confidence: 99%

A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene

Szczerbal

Nowacka‐Woszuk²,

Dzimira³

et al. 2016

Sex Dev

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Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris. The molecular background of this disorder, diagnosed also in human and other mammals, is not fully understood. However, it has recently been proposed that a copy number variation (CNV) in the region upstream of the SOX9 gene is associated with it. We described a rare case of this disorder in a French Bulldog with abdominal testes and male external genitalia (a slightly malformed penis). FISH studies showed a female karyotype, lack of a translocation involving the Y chromosome, and a distinct size variation in the CNV region (CNVR) upstream of the SOX9 gene, located on chromosome 9 (CFA9). A large FISH variant on a single CFA9 and a lack of the variant on its homologue was observed. Surprisingly, in the mother of this DSD dog, 2 normal-sized variants were identified which means that the CNV in the DSD dog was de novo. Our observations are in agreement with earlier suggestions that a high number of copies at the CNVR upstream of SOX9 may be associated with this type of DSD.

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Section: Cytogenetic Analysismentioning

confidence: 99%

A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene

Szczerbal

Nowacka‐Woszuk²,

Dzimira³

et al. 2016

Sex Dev

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“…Cytogenetic slides obtained from in vitro cultured lymphocytes were Q-banded prior to FISH [Caspersson et al, 1970]. Hybridization was performed following the protocol described earlier [Szczerbal et al, 2003]. Slides were analyzed under a Nikon E 600 Eclipse fluorescence microscope, equipped with a cooled digital CCD camera, driven by the computer-aided [Breen et al, 1999], red fox [Mäkinen et al, 1985b], arctic fox [Mäkinen et al, 1985a] and Chinese raccoon dog [Pienkowska et al, 2002] was followed.…”

Section: Methodsmentioning

confidence: 99%

“…Mapping of the red fox, arctic fox and Chinese raccoon dog chromosomes was focused mainly on microsatellite markers, and only a few genes were considered [Switonski et al, 2009]. Among genes encoding proteins involved in growth and energy balance only 3 genes have been localized by FISH: LEP and IGF1 [Szczerbal et al, 2003], and MC4R [Skorczyk et al, 2007].…”

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confidence: 99%

A Comparison of Coding Sequence and Cytogenetic Localization of the Myostatin Gene in the Dog, Red Fox, Arctic Fox and Chinese Raccoon Dog

Grzes¹,

Nowacka‐Woszuk²,

Szczerbal³

et al. 2009

Cytogenet Genome Res

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The gene encoding myostatin (MSTN), due to its crucial function for growth of skeletal muscle mass, is an important candidate for muscularity. In this study we analyzed the nucleotide sequence and FISH localization of this gene in 4 canids, including 3 farm species. The nucleotide sequence of the MSTN coding fragment turned out to be highly conserved, since its identity among the studied species was very high and varied between 99.4 and 99.7%. Only 1, widely spread, silent single nucleotide polymorphism (SNP) was found in exon 1 of the Chinese raccoon dog. The MSTN gene was localized close to the centromere in one-armed chromosomes of the dog (37q11) and bi-armed chromosomes of the red fox (16p11) and arctic fox (10q11), with an exception of the Chinese raccoon dog chromosome (2q14–q21). This chromosome is orthologous to 3 canine chromosomes and thus the MSTN was found more interstitially. Our results are in agreement with the hypothesis that karyotypes of the canids evolved mainly through centric fusion/fission events, while tandem fusions occurred rarely.

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“…DNA from clones was isolated by alkaline lysis and labeled by random priming with biotin-16-dUTP. Fluorescence in situ hybridization (FISH) was performed according to a protocol described earlier by Szczerbal et al [2003]. Signal detection was performed with the use of streptavidin-Cy3.…”

Section: Fish Mappingmentioning

confidence: 99%

Two Candidate Genes (FTO and INSIG2) for Fat Accumulation in Four Canids: Chromosome Mapping, Gene Polymorphisms and Association Studies of Body and Skin Weight of Red Foxes

Grzes¹,

Szczerbal²,

Fijak-Nowak³

et al. 2011

Cytogenet Genome Res

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Fat accumulation is a polygenic trait which has a significant impact on human health and animal production. Obesity is also an increasingly serious problem in dog breeding. The FTO and INSIG2 are considered as candidate genes associated with predisposition for human obesity. In this report we present a comparative genomic analysis of these 2 genes in 4 species belonging to the family Canidae – the dog and 3 species which are kept in captivity for fur production, i.e. red fox, arctic fox and Chinese raccoon dog. We cytogenetically mapped these 2 loci by FISH and compared the entire coding sequence of INSIG2 and a fragment of the coding sequence of FTO. The FTO gene was assigned to the following chromosomes: CFA2q25 (dog), VVU2q21 (red fox), ALA8q25 (arctic fox) and NPP10q24–25 (Chinese raccoon dog), while the INSIG2 was mapped to CFA19q17, VVU5p14, ALA24q15 and NPP9q22, respectively. Altogether, 29 SNPs were identified (16 in INSIG2 and 13 in FTO) and among them 2 were missense substitutions in the dog (23C/T, Thr>Met in the FTO gene and 40C/A, Arg>Ser in INSIG2). The distribution of these 2 SNPs was studied in 14 dog breeds. Two synonymous SNPs, one in the FTO gene (–28T>C in the 5′-flanking region) and one in the INSIG2 (10175C>T in intron 2), were used for the association studies in red foxes (n = 390) and suggestive evidence was observed for their association with body weight (FTO, p < 0.08) and weight of raw skin (INSIG2, p < 0.05). These associations indicate that both genes are potential candidates for growth or adipose tissue accumulation in canids. We also suggest that the 2 missense substitutions found in dogs should be studied in terms of genetic predisposition to obesity.

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Comparative chromosomal localization of the canine-derived BAC clones containing LEP and IGF1 genes in four species of the family Canidae

Cited by 13 publications

References 10 publications

A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; <b><i>SRY</i></b>-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the <b><i>SOX9</i></b> Gene

A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; <b><i>SRY</i></b>-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the <b><i>SOX9</i></b> Gene

A Comparison of Coding Sequence and Cytogenetic Localization of the Myostatin Gene in the Dog, Red Fox, Arctic Fox and Chinese Raccoon Dog

Two Candidate Genes <i>(FTO</i> and <i>INSIG2)</i> for Fat Accumulation in Four Canids: Chromosome Mapping, Gene Polymorphisms and Association Studies of Body and Skin Weight of Red Foxes

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