Morphological and karyotypic characterization of intersex pigs with hernia inguinalis

Tiranti, I. N.; Genghini, Rosa; Quintana, H. González; Wittouck, P.

doi:10.1017/s0021859602001958

Cited by 5 publications

(3 citation statements)

References 1 publication

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“…The presence of eosinophilic macrophages within the testis structures in all four females suggests a localized immune reaction against the foreign male cells, similar to what is seen in autoimmune diseases (Nelson, 2002;Reed et al, 2004;Khosrotehrani and Bianchi, 2005). Similar findings have been reported in pigs (Tiranti et al, 2002) and cattle (Dunn et al, 1979). Furthermore, detection of male cells coupled with the detection of SRY transcription in the gonads of one of the female chimeras demonstrates, also for the first time, the functionality of these cells.…”

Section: Discussionsupporting

confidence: 83%

Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep

Brace¹,

Peters²,

Menzies³

et al. 2008

Cytogenet Genome Res

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In cattle, nearly all heifers born co-twin to a male are freemartins, XX/XY chimeras that exhibit a characteristic masculinized phenotype. However, in sheep, while litters containing males and females are common, freemartins are relatively rare. The primary aim of this study was to determine the frequency and features of XX/XY chimerism in female Rideau Arcott sheep. Also, breeding records were used to investigate the effect of litter size and sex ratios, as well as the genetic basis of the condition. Finally, the migration and transcriptional competence of cells of the opposite sex in the XX/XY female and male chimeras was explored. Genomic DNA (gDNA) from peripheral blood cells of ewes was screened by PCR for the male-specific SRY gene. Of 230 lambs screened, 10 were identified as chimeras. Litter size and sex ratio showed no statistically significant effect on the frequency of chimerism. PCR and FISH analysis confirmed the presence of opposite sex cells in female and male chimeras, and in the case of ewes, their migration to tissues other than blood. Transcriptional activity of SRY and AMH was detected in gonads of ewes, whereas XIST expression was detected in white blood cells of chimeric rams. It was concluded that the frequency of sex chromosome chimerism in Rideau Arcott sheep is estimated at 4.35%, with no significant effect of litter size and sex ratio. Moreover, as it was shown that opposite sex cells can migrate to tissues other than blood and be transcriptionally active in chimeric sheep, we speculate on the role they can play in these animals.

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Section: Discussionsupporting

confidence: 83%

Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep

Brace¹,

Peters²,

Menzies³

et al. 2008

Cytogenet Genome Res

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“…These data suggest that estrogen can be related to the normal function of both KIF18A and NPTX1. Sex hormone deregulation has been considered as one of the reasons for hernia development [31] – [33] , but significant association of genetic variants in ESR1 and ESR2 with scrotal hernia were not found using the same datasets [41] . We suspect that genetic polymorphisms in both KIF18A and NPTX1 , as they could possibly be linked to estrogen, could also affect the function of estrogen, or be affected, and thus involved in the abnormal development of scrotal hernia, though the exact molecular mechanism is still unclear.…”

Section: Discussionmentioning

confidence: 99%

“…Taking into consideration the practical concerns of experimental power in the design of GWA and candidate gene association analyses in human disease studies [9] , [21] , [22] , and the genomic distribution of LD status in pigs [23] , we selected 99 positional candidate genes located in the aforementioned interesting regions on SSC2 and SSC12 to conduct a regional large-scale resequencing and association study for the genetic causes of scrotal/inguinal hernia. The possible dysfunction of these genes can result in the aberrant collagen metabolism (the most probable reason considered for hernia development) [24] – [27] , the smooth muscle breakdown [28] , [29] , an altered apoptosis pathway [30] , the sex hormone deregulation [31] – [33] , and the dedifferentiation of fibroblasts derived from the stem cells during epithelial-mesenchymal transition (EMT) [34] .…”

Section: Introductionmentioning

confidence: 99%

Association and Haplotype Analyses of Positional Candidate Genes in Five Genomic Regions Linked to Scrotal Hernia in Commercial Pig Lines

Xiao

Vukasinovic³

et al. 2009

PLoS ONE

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Scrotal hernia in pigs is a complex trait likely affected by genetic and environmental factors. A large-scale association analysis of positional and functional candidate genes was conducted in four previously identified genomic regions linked to hernia susceptibility on Sus scrofa chromosomes 2 and 12, as well as the fifth region around 67 cM on chromosome 2, respectively. In total, 151 out of 416 SNPs discovered were genotyped successfully. Using a family-based analysis we found that four regions surrounding ELF5, KIF18A, COL23A1 on chromosome 2, and NPTX1 on chromosome 12, respectively, may contain the genetic variants important for the development of the scrotal hernia in pigs. These findings were replicated in another case-control dataset. The SNPs around the ELF5 region were in high linkage disequilibrium with each other, and a haplotype containing SNPs from ELF5 and CAT was highly significantly associated with hernia development. Extensive re-sequencing work focused on the KIF18A gene did not detect any further SNPs with extensive association signals. These genes may be involved in the estrogen receptor signaling pathway (KIF18A and NPTX1), the epithelial-mesenchymal transition (ELF5) and the collagen metabolism pathway (COL23A1), which are associated with the important molecular characteristics of hernia pathophysiology. Further investigation on the molecular mechanisms of these genes may provide more molecular clues on hernia development in pigs.

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Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)

Vilchis

Mares

Chávez

et al. 2020

Reprod. Fertil. Dev.

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Here we describe the case of a pig with intersex traits including ambiguous external genitalia, sex chromosome abnormalities and a late-onset vanishing testis-like syndrome. It was identified shortly after birth by presenting a predominantly female phenotype with two large scrotal masses resembling testes. The karyotype is 38,XX (53%)/38,XY (47%). Sex steroid levels were undetectable at 1 and 7 months old, whereas circulating cortisol levels were typical. DNA studies excluded gene alterations in sex-determining region Y (SRY), dosage-sensitive sex reversal-congenital adrenal hypoplasia critical region on the X chromosome protein 1 (DAX1), SRY-related high mobility group-box gene 9 (SOX9), nuclear receptor subfamily 5, group a, member 1 (NR5A1), nuclear receptor subfamily 3, group c, member 4 (NR3C4) and steroid 5-alpha-reductase 2 (SRD5A2). At 8 months of age the XX/XY pig evinced delayed growth; however, the most striking phenotypic change was that the testes-like structures completely vanished in a 2–3-week period. The internal genitalia were found to consist of a portion of a vagina and urethra. No fallopian tubes, uterus or remnants of Wolffian derivatives were observed. More importantly, no testes, ovaries, ovotestis or gonadal streaks could be identified. The XX/XY sex chromosome dosage and/or overexpression of the DAX1 gene on the X chromosome in the presence of a wild-type SRY gene may have caused this predominantly female phenotype. This specimen represents an atypical case of 38,XX/38,XY chimeric, ovotesticular disorder of sex development associated with agonadism.

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Morphological and karyotypic characterization of intersex pigs with hernia inguinalis

Cited by 5 publications

References 1 publication

Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep

Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep

Association and Haplotype Analyses of Positional Candidate Genes in Five Genomic Regions Linked to Scrotal Hernia in Commercial Pig Lines

Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)

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