Sex chromosome abnormalities and sterility in river buffalo

Meo, G. P. Di; Perucatti, A.; Palo, R. Di; Iannuzzi, Alessandra; Ciotola, Francesca; Peretti, V.; Neglia, Gianluca; Campanile, Giuseppe; Zicarelli, L.; Iannuzzi, L.

doi:10.1159/000118751

Cited by 21 publications

(13 citation statements)

References 18 publications

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“…2009) and mouse (Arnold & Chen 2009). In contrast, surprisingly few and exclusively SRY ‐positive ‘masculine’‐type XY females have been reported for other species, such as river buffalo (Di Meo et al. 2008), dog (Nowacka‐Woszuk et al.…”

Section: Discussionmentioning

confidence: 96%

Molecular heterogeneity of XY sex reversal in horses

et al. 2010

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SummaryMale-to-female 64,XY sex reversal is a frequently reported chromosome abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly understood. This is partially because only limited molecular information is available for the horse Y chromosome (ECAY). Here, we used the recently developed ECAY map and carried out the first comprehensive study of the Y chromosome in XY mares (n = 18). The integrity of the ECAY in XY females was studied by FISH and PCR using markers evenly distributed along the euchromatic region. The results showed that the XY sex reversal condition in horses has two molecularly distinct forms: (i) a Y-linked form that is characterized by Y chromosome deletions and (ii) a non-Y-linked form where the Y chromosome of affected females is molecularly the same as in normal males. Further analysis of the Y-linked form (13 cases) showed that the condition is molecularly heterogeneous: the smallest deletions spanned about 21 kb, while the largest involved the entire euchromatic region. Regardless of the size, all deletions included the SRY gene. We show that the deletions were likely caused by inter-chromatid recombination events between repeated sequences in ECAY. Further, we hypothesize that the occurrence of SRY-negative XY females in some species (horse, human) but not in others (pig, dog) is because of differences in the organization of the Y chromosome. Finally, in contrast to the Y-linked SRY-negative form of equine XY sex reversal, the molecular causes of SRY-positive XY mares (5 cases) remain as yet undefined.

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Section: Discussionmentioning

confidence: 96%

Molecular heterogeneity of XY sex reversal in horses

et al. 2010

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“…Other species in which trisomy-X has been reported include the mouse [16], Murrah buffalo [17], mare [18–20], river buffalo [21,22], bovine heifer [23–27], macaque [28], and sheep [29]. The majority of these animals had cytogenetic investigations prompted by a history of infertility, failure to cycle, or infantile vulva [5].…”

Section: Discussionmentioning

confidence: 99%

Trisomy-X with estrous cycle anomalies in two female dogs

et al. 2011

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Two female dogs were presented with a history of abnormal estrous cycles and infertility, despite multiple breedings. Medical therapy to correct the cycle anomalies did not result in pregnancy. Cytogenetic analysis of blood lymphocyte cultures in each dog revealed three copies of the X chromosome in each cell, constituting a 79,XXX karyotype (trisomy-X). Both dogs were eventually ovariohysterectomised and histological evaluation revealed hypoplastic ovaries and an absence of normal follicular structures. However, partial or immature follicles were noted, which may have been sufficient to cause both females to initiate cycling. The history and clinical characteristics found in these dogs were compared to those described in three other dogs reported with trisomy-X, as well as those reported in other species. These findings highlighted the importance of cytogenetic studies in fertility evaluation and achieving a definitive diagnosis for infertility in the bitch.

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“…Generally the carrier is sterile with serious modifications of the reproductive apparatus, such as an abnormal cervix and uterus, or the absence of gonads. The X-trisomy has been found in two river buffaloes, one Murrah [ 80 ] and one MIRB [ 7 ]. Both animals were sterile because of abnormalities of internal genitalia (absent gonads).…”

Section: Disorders Of Sexual Developmentmentioning

confidence: 99%

“…In domestic animals sex reversal disorders are rare and described in horses [ 84 , 85 , 86 ], cattle [ 87 ], pigs [ 88 ], dogs [ 89 ], and cats [ 90 ]. Up to now, in river buffalo only the XY female condition in two MIRBs with female external genitalia and some phenotypic male traits [ 7 ] has been reported. Both animals were sterile due to gonadal dysgenesis; in particular, one was SRY positive and lacking internal sex ducts; and the other one (with an unknown SRY condition) showed Müllerian duct atrophy.…”

Section: Disorders Of Sexual Developmentmentioning

confidence: 99%

“…According to Damè et al [ 5 ] all of these defects were due to the high level of consanguinity of Brazilian buffaloes. In MIRB, transverse hemimelia [ 6 ] and sexual developmental abnormalities [ 7 ] were mainly reported (114 and six cases, respectively). According to the World Health Organization, congenital diseases are structural or functional anomalies, including metabolic disorders, which are present at the time of birth due to different etiology causes, such as genetic and environmental factors and infections [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

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Congenital Malformations in River Buffalo (Bubalus bubalis)

Albarella

Ciotola

D’Anza

et al. 2017

Animals

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Simple SummaryCongenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species.AbstractThe world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

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Sex chromosome abnormalities and sterility in river buffalo

Cited by 21 publications

References 18 publications

Molecular heterogeneity of XY sex reversal in horses

Molecular heterogeneity of XY sex reversal in horses

Trisomy-X with estrous cycle anomalies in two female dogs

Congenital Malformations in River Buffalo (Bubalus bubalis)

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