Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog.

Here we describe an eight-year-old miniature schnauzer (MS) dog from Brazil with Persistent Mullerian Duct Syndrome (PMDS) and the single base pair substitution in AMHR2 exon 3, first detected in this breed in the USA. This finding is evidence of mutation dissemination to South America. In PMDS, a type of XY Disorder of Sex Development (DSD), dogs with a male karyotype and external phenotype also have a uterus, oviducts, and a cranial vagina internally. Approximately half of PMDS MS are unilaterally or bilaterally cryptorchid and many develop pyometra and/or Sertoli cell tumor. Bilateral Sertoli cell testicular tumors were present in this case, and the dog died a few days after surgical castration and hysterectomy. Although the karyotype was compatible with male chromosomal sex, a Robertsonian translocation was also identified, which may be an incidental finding. This report emphasizes the importance of cytogenetic and molecular genetic analyses, along with clinical examination, to identify chromosomal or genetic variations associated with canine PMDS. These are helpful tools to obtain early diagnosis in the MS, which is important to improve health outcomes for affected dogs and to reduce the prevalence of PMDS and cryptorchidism in this breed by avoiding the mating of carriers.

The use of microsatellite markers in Neotropical studies of wild birds: a literature review.

Despite extensive habitat fragmentation, the Neotropical region possesses 30% of the world´s bird species. Microsatellites have remained one of the most popular genetic markers and have been used in ecological and conservation studies since the 1990's. We conducted a literature review comparing the number of papers published from January 1990 to July 2015 that used microsatellite markers for studies of wild birds in the Neotropical region, USA and some European countries. We assigned the articles to three categories of studies: population genetics, animal behavior/kinship analysis and the development of species-specific bird microsatellite markers. We also compared the studies in the Neotropics that used heterologous versus species-specific markers and provide a list of heterologous markers of utility in multiple birds. Despite the rich bird fauna in the Neotropics, the number of articles published represents only 5.6% of that published by the USA and selected European countries. Within the Neotropical region, Brazil possessed 60.5% of the total papers published, with the remaining 39.5% shared between five countries. We conclude that the lack of specialized laboratories and resources still represents a limit to microsatellite-based genetic studies of birds within the Neotropical region. To overcome these limitations, we suggest the use of heterologous microsatellite markers as a cost-effective and time-effective tool to assist ecological studies of wild birds.

Cytogenetics and Molecular Genetic Analysis of Chimerism in Marmosets (Callithrix: Primates).

The birth of fraternal twins is a characteristic frequently observed in callitrichids. Cytogenetic studies have demonstrated hematopoietic chimerism in marmosets with the occurrence of two cell lines 2n=46,XX/46,XY in females and males co-twins, without phenotypic changes. Amplification by PCR have also been used to verify the presence of the SRY gene in female chimaeras. Our aim was to verify the occurrence of chimerism in Callithrix sp. individuals considered as hybrids according to their intermediate phenotypes between C. jacchus and C. penicillata. Blood samples from 37 Callithrix sp. individuals were collected. Hematopoietic chimerism 2n=46,XX/46,XY was detected by cytogenetic analysis in five individuals, three males and two females. A fragment of approximately 200bp of the SRY gene was amplified in seven females with normal external genitalia. The percentage of 32% of chimeric individuals detected in the present study is similar to that observed for pure specimens of Callithrix. These data suggests that hybridization probably does not interfere with the occurrence of twin gestation, nor of chimerism. Although cytogenetics is the main tool to identify the two cell lineages present in cases of chimerism, the amplification of the SRY gene by PCR has proved to be more efficient to identify the Y chromosome in cases of chimeric female marmoset.

Molecular and morphometric identification of Trypanosoma (Megatrypanum) minasense in blood samples of marmosets (Callithrix: Callithrichidae) from the city of Rio de Janeiro, Brazil.

Callithrix jacchus and C. penicillata marmosets are invasive to the state of Rio de Janeiro, Brazil, threatening the native and vulnerable C. aurita. Both invasive species can be hosts of Trypanosoma cruzi, T. minasense, T. rangeli and T. devei. We aim to investigate the occurrence of trypanosomatids in Callithrix sp. from Jardim Botânico do Rio de Janeiro, located in a central and populous area of the city. Fifteen marmosets were captured. Blood samples were collected for light microscopy and molecular genetics analysis. Parasites morphometric values were evaluated for species identification. DNA was extracted from blood samples by phenol-chloroform method, for partial amplification of the 18S rRNA gene. PCR products were sequenced and aligned using BLAST®. A maximum likelihood phylogenetic tree was constructed to analyze the proximity between the observed sequences. By light microscopy, trypomastigotes were detected in five of the fifteen marmosets. Morphometric measurements and size polymorphism corresponded to those previously described for T. minasense. The DNA sequences of approximately 600 base pairs of the 18S rRNA gene were obtained for three samples with 99% identity with T. minasense sequence, forming a cluster in the phylogenetic tree and corroborating morphometric analysis. Trypanosoma minasense is a highly specific parasite to non-human primates considered as non-pathogenic. There is no evidence of infection in humans and these parasite findings from invasive marmosets do not support additional risks for the native species.

The use of microsatellite markers in Neotropical studies of wild birds: a literature review

ABSTRACT Despite extensive habitat fragmentation, the Neotropical region possesses 30% of the world´s bird species. Microsatellites have remained one of the most popular genetic markers and have been used in ecological and conservation studies since the 1990's. We conducted a literature review comparing the number of papers published from January 1990 to July 2015 that used microsatellite markers for studies of wild birds in the Neotropical region, USA and some European countries. We assigned the articles to three categories of studies: population genetics, animal behavior/kinship analysis and the development of species-specific bird microsatellite markers. We also compared the studies in the Neotropics that used heterologous versus species-specific markers and provide a list of heterologous markers of utility in multiple birds. Despite the rich bird fauna in the Neotropics, the number of articles published represents only 5.6% of that published by the USA and selected European countries. Within the Neotropical region, Brazil possessed 60.5% of the total papers published, with the remaining 39.5% shared between five countries. We conclude that the lack of specialized laboratories and resources still represents a limit to microsatellite-based genetic studies of birds within the Neotropical region. To overcome these limitations, we suggest the use of heterologous microsatellite markers as a cost-effective and time-effective tool to assist ecological studies of wild birds.

Cytogenetics and Molecular Genetic Analysis of Chimerism in Marmosets (Callithrix: Primates)

ABSTRACT The birth of fraternal twins is a characteristic frequently observed in callitrichids. Cytogenetic studies have demonstrated hematopoietic chimerism in marmosets with the occurrence of two cell lines 2n=46,XX/46,XY in females and males co-twins, without phenotypic changes. Amplification by PCR have also been used to verify the presence of the SRY gene in female chimaeras. Our aim was to verify the occurrence of chimerism in Callithrix sp. individuals considered as hybrids according to their intermediate phenotypes between C. jacchus and C. penicillata. Blood samples from 37 Callithrix sp. individuals were collected. Hematopoietic chimerism 2n=46,XX/46,XY was detected by cytogenetic analysis in five individuals, three males and two females. A fragment of approximately 200bp of the SRY gene was amplified in seven females with normal external genitalia. The percentage of 32% of chimeric individuals detected in the present study is similar to that observed for pure specimens of Callithrix. These data suggests that hybridization probably does not interfere with the occurrence of twin gestation, nor of chimerism. Although cytogenetics is the main tool to identify the two cell lineages present in cases of chimerism, the amplification of the SRY gene by PCR has proved to be more efficient to identify the Y chromosome in cases of chimeric female marmoset.

Cleft lip and palate associated with other malformations in a neotropical primate (Saimiri ustus).

Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates.