LOSS OF THE SEX-CHROMOSOME IN HUMAN NEOPLASIAS OF THE NERVOUS-SYSTEM

Thirty-eight tumors (five grade I-II astrocytomas, three grade III astrocytomas, four glioblastomas, one oligodendroglioma, four ependymomas, one pineocytoma, three medulloblastomas, four acoustic nerve neurinomas, one intraspinal neurinoma, one neurofibroma, 10 meningiomas, and one craniopharyngioma) and three benign lesions of the nervous system were evaluated cytogenetically after in vitro culture. Sex chromosome loss was detected in 56% of the cases (-X in 13 of the 25 female patients and -Y in nine of the 16 male patients). The objective of the present report was to study the role of this abnormality in cells of the nervous system.

Loss of imprinting and loss of heterozygosity on 11p15.5 in head and neck squamous cell carcinomas

Background. IGF2 and H19 are reciprocal imprinted genes with paternal and maternal monoallelic expression, respectively. This is interesting, because IGF2 is known as a growth factor, and H19 encodes a RNA with putative tumor suppressor action. Furthermore, IGF2 and H19 are linked genes located on chromosome 11p15.5, a common site of loss of heterozygosity in human cancers.Methods. We performed an allelic-typing assay using a PCR-RFLP-based method for identification of heterozygous Informative cases in head and neck squamous cell carcinomas. Tumoral total RNA was extracted from each of the heterozygotes and further studied by RT-PCR analysis.Results. We detected the expression of the IGF2 gene in 10 of 10 informative cases. Two cases exhibited LOI of the IGF2 gene as evidenced by biallelic expression, and in another case, LOH was coupled with monoallelic expression of this growth factor. LOI for the H19 gene was observed in 1 of 14 informative samples analyzed. In this case, we also detected parallel mono-allelic expression of the IGF2 gene. Down-regulation of the H19 gene was observed in 10 of 14 cases.Conclusion. These findings support the hypothesis that H19 may be a tumor suppressor gene involved In head and neck carcinogenesis. Furthermore, our data showed that genetic and epigenetic chances at 11p15.5 could lead to abnormal expression of imprinted genes in HNSCC. (C) 2001 John Wiley & Sons, Inc.

Use of primers derived from a new sequence of the bovine Y chromosome for sexing Bos taurus and Bos indicus embryos

A bovine male-specific marker was identified in our laboratory through random amplified polymorphic DNA (RAPD) analysis. This fragment of 3216 bp was cloned, sequenced and mapped by fluorescent in situ hybridization (FISH) on the taurine Yq. Primers derived from this sequence were initially screened by polymerase chain reaction (PCR) for their ability to detect Y-specific segments in zebu and taurine genomic DNA. Two of these primers amplified a 655 bp Y-specific sequence present in taurine and zebu male genomic DNA. These primers were then used for detecting the 655 bp male sequence in DNA from 173 zebu and 30 taurine embryos, which had been previously sexed using primers for the sequence BC 1.2. The results revealed an accuracy of 100%. (C) 2002 Elsevier B.V. All rights reserved.

CYTOGENETICS OF 4 BRAZILIAN HYLA SPECIES (AMPHIBIA-ANURA) AND DESCRIPTION OF A CASE WITH A SUPERNUMERARY CHROMOSOME

The chromosomes of Hyla fuscovaria, H. hayii and II. prasina, with 2n=24, and of Hyla sp. (aff. circumdata), a new species, with 2n=24 and 2n=25, were studied.The karyotypes with 2n=24 in the four species were very similar, with almost no differences in the size and morphology of the chromosomes. The numerical variability found in Hyla sp. (aff. circumdata) is due to the occurrence of a supernumerary chromosome in some specimens. NOR data obtained for the first time in the four species and C banding analysis of H. prasina indicate that such types of banding may be useful to differentiate species with very similar karyotypes, contributing to the understanding of chromosome evolution and the establishment of phylogenetic relationships among Brazilian Hyla species.

AN INEXPENSIVE METHOD FOR CHROMOSOME PREPARATIONS FROM FEATHER PULP IN BIRDS, USING SHORT-TERM TREATMENT WITH COLCHICINE IN-VITRO, DEMONSTRATED ON AMAZONA-AMAZONICA (PSITTACIDAE)

In order to develop an efficient and low-cost technique for obtaining bird chromosome preparations, and to adapt the cytogenetic process of bird sexing for general use at zoos and breeding farms with the technical support of cytogenetics laboratories, we tested variants of the technique described by Giannoni et al. (Genet. Sel. Evol. 23: 123-125, 1991), based on the utilization of cellular material from growing feather pulp cultured in complete medium for six hours. Hanks' saline solution gave satisfactory performance as a substitute for complete medium, with no need to use PHA, serum of collagenase, when utilized in material obtained from feather pulp of Amazona amazonica (Psittacidae).

Mapping QTLs on chicken chromosome 1 for performance and carcass traits in a broiler x layer cross

With the objective of mapping quantitative trait loci (QTLs) for performance and carcass traits, an F-2 chicken population was developed by crossing broiler and layer lines. A total of 2063 F-2 chicks in 21 full-sib families were reared as broilers and slaughtered at 42 days of age. Seventeen performance and carcass traits were measured. Parental (F-0) and F-1 individuals were genotyped with 80 microsatellites from chicken chromosome 1 to select informative markers. Thirty-three informative markers were used for selective genotyping of F-2 individuals with extreme phenotypes for body weight at 42 days of age (BW42). Based on the regions identified by selective genotyping, seven full-sib families (649 F-2 chicks) were genotyped with 26 markers. Quantitative trait loci affecting body weight, feed intake, carcass weight, drums and thighs weight and abdominal fat weight were mapped to regions already identified in other populations. Quantitative trait loci for weights of gizzard, liver, lungs, heart and feet, as well as length of intestine, not previously described in the literature were mapped on chromosome 1. This F-2 population can be used to identify novel QTLs and constitutes a new resource for studies of genes related to growth and carcass traits in poultry.

POPULATIONAL STUDY OF CHROMOSOME POLYMORPHISM IN ZONOTRICHIA-CAPENSIS (EMBERIZIDAE, PASSERIFORMES, AVES)

The karyotypes of 328 specimens of Zonotrichia capensis from four regions, three in the state of Parana and one in the state of São Paulo (Brazil), were studied. This species presents a chromosomal polymorphism due to pericentric inversion, involving the 3rd and 5th chromosome pairs. Chromosome 3 exists in the 3st and 3sm conditions and chromosome 5, in 5st and 5m conditions. Mitotic metaphase spreads were obtained from bone-marrow material of colchicine-treated animals.At all collection sites the frequency of chromosome 5m was considerably lower than that of the inverted chromosome 3sm.The present work tried to establish a correlation between the frequencies of the 3rd and 5th chromosome pairs with the climatical and geographical parameters at the collecting regions.Data show that the frequency of chromosome 5m is higher in regions with low temperature and high altitude.