Trisomy-X in a sterile river buffalo

Prakash, B.; Balain, D. S.; Lathwal, S. S.; Malik, R.K.

doi:10.1136/vr.134.10.241

Cited by 13 publications

(14 citation statements)

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“…Non-mosaic X-chromosome trisomy has also been found in cattle, river buffalo, dog, and alpaca ( table 1 ). In cattle and river buffalo, some animals are fertile [Yadav and Balakrishnan, 1982] or subfertile [Swartz and Vogt, 1983], while others have impaired reproductive physiology and are sterile [Prakash et al, 1994;Moreno-Millan et al, 1987]. The single X-trisomy case found in dogs was associated with gonadal dysgenesis [Johnston et al, 1985].…”

Section: X-trisomymentioning

confidence: 99%

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

Raudsepp

Das²,

Avila³

et al. 2011

Sex Dev

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evidence about the likely involvement of PAR genes in placenta formation, early embryonic development and genomic imprinting are presented. Copyright © 2011 S. Karger AG, Basel The pseudoautosomal region (PAR) is a short region of sequence homology between the sex chromosomes and is involved in sex chromosome pairing, recombination and segregation in meiosis of the heterogametic sex. The region has been found in many plant and animal species, including mammals [Charlesworth et al., 2005;Ming and Moore, 2007].The mammalian PAR was discovered almost 80 years ago through studies of male meiosis in rats, where a synaptonemal complex between the X and Y was detected [Koller and Darlington, 1934]. Similar structures were soon found between the terminal ends of the X and Y chromosomes in several other eutherian species [Pathak and Elder, 1980], but not in marsupials [Sharp, 1982]. These observations have later been validated through detailed molecular genetic studies both in eutherian [Martin, 2006;Oliver-Bonet et al., 2006;Kauppi et al., 2011] and marsupial [Page et al., 2005[Page et al., , 2006 mammals.Whole or partial genome sequence data are available for almost all main domestic species -alpaca, cat, cat- Key WordsAneuploidy ؒ Domestic species ؒ Pseudoautosomal region ؒ Sex chromosomes ؒ X-monosomy ؒ X-trisomy AbstractThe pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content between other species. Given that PAR genes escape X inactivation, these differences might critically affect the genetic consequences, such as embryonic survival and postnatal phenotypes of sex chromosome aneuploidies. The aim of this review is to combine the available information about the organization of the PAR in domestic species with the cytogenetic data on sex chromosome aneuploidies. We show that viable XO individuals are relatively frequently found in species with small PARs, such as horses, humans and mice but are rare or absent in species in which the PAR is substantially larger, like in cattle/ruminants, dogs, pigs, and alpacas. No similar correlation can be detected between the PAR size and the X chromosome trisomy in different species. Recent

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Section: X-trisomymentioning

confidence: 99%

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

Raudsepp

Das²,

Avila³

et al. 2011

Sex Dev

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“…The river buffalo X chromosome is characterized by a prominent, somewhat triangular C-band and an intercalary heterochromatic band often appears below the C-band (Prakash et al, 1994;Di Meo et al, 1995). In the present study, all 100 metaphases screened exhibited 50 chromosomes, including the Y chromosome and a very large metacentric chromosome which was the result of a centric fusion between the two X chromosomes, as revealed by GTGbanding ( Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Various chromosomal anomalies associated with infertility and reduced fertility have been documented in both human and cattle, while few cases have been studied in river buffalo. Most of these buffaloes showed chromosomal anomalies involving autosomes, such as translocations (Vijh et al, 1994), chromosome polymorphisms (Patel et al, 1997;Patel and Khoda, 1998), inversions (Balakrishnan et al, 1985), fragile sites (Sanghamitra et al, 2004 ) and secondary constrictions (Balakrishnan and Yadav, 1984;Patel, 1999), or sex chromosome aneuploidy, such as X0 (Yadav et al, 1990;Prakash et al, 1992;Iannuzzi et al, 2000), XXX (Balakrishnan and Yadav, 1984 ;Prakash et al, 1994;Iannuzzi et al, 2004) and XX/XY chimerism (Balakrishnan et al, 1981;Iannuzzi et al, 2005). While sex chromosome aneuploidy is generally due to nondisjunction durSupported by Dairyboard, India.…”

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confidence: 99%

Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo <i>(Bubalus bubalis)</i>

Patel

Singh

Soni

et al. 2006

Cytogenet Genome Res

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Cytogenetic investigations of a phenotypically normal Mehsana river buffalo calf (Bubalusbubalis) revealed an XXY chromosome complement due to X;X-translocation in all screened metaphase plates. The chromosomal anomaly was identified by GTG-banding while CBG- and RBG-banding revealed two heterochromatin blocks and that one of the two X chromosomes was late replicating, respectively. The normal cytogenetic profiles of sire, dam and relatives of the calf suggest that the anomaly could have arisen spontaneously during oogenesis. This is the first report on a male river buffalo calf having an XXY chromosome complement with translocation between the two X chromosomes.

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“…Where artificial insemination (Al) is used, chromosomal aberration can be transmitted to large populations and it can cause repeat breeding in females because of embryonic losses, and poor semen quality in bulls. Cytogenetics in domestic animals was started in the early sixties and various abnormalities have been reported in Indian cattle (Prakash et al, 1995;Patel et al, 1997a;Patel, 1999a;Patel and Patel, 2000;Yadav, 2000;Patel, 2002Patel, 2003Muralidharan et al, 2011) and in buffaloes (Balakrishnan and Yadav 1984;Balakrishnan et al, 1985;Yadav et al, 1987;Yadav et al, 1990;Prakash et al, 1992;Prakash et al, 1994;Vijh et al, 1994;Patel et al, 1997;Patel and Khoda, 1998;Patel, 1999b;Patel et al, 2006;Chauhan et al, 2009;Prakash and Singh, 2009 …”

Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of Breeding bulls using lymphocyte culture

Patel¹,

Patel²,

Patel³

et al. 2012

Bangl. vet.

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Chromosomal aberrations or abnormal karyotypes could be one reason for reproductive failure in breeding bulls. The objective of the study was to detect chromosomal abnormalities and their relation with fertility problem in cattle and water buffalo breeding bulls. Blood samples were collected from 30 buffalo bulls and 23 Holstein or Holstein-Friesian cross bred bulls for lymphocyte culture. No gross chromosomal abnormality was detected. However, a few samples exhibited polyploidy, premature centromeric division, chromosomal fragmentation, aneuploid cells, fragile site, chromatid gaps or breaks. These aberrations were not consistent feature in a particular animal; therefore, the aberrations may not have obvious effects on fertility. However, such aberrations should be scored in regular screening as a high percentage of such abnormalities can be associated with reduced fertility. (Bangl. vet.

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Trisomy-X in a sterile river buffalo

Cited by 13 publications

References 0 publications

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species

Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo <i>(Bubalus bubalis)</i>

Chromosomal analysis of Breeding bulls using lymphocyte culture

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