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Biomedical subjects

M Breen

Publications and source records attributed to M Breen.

At least 55 records · Page 3Linked to original sources

Genetical and physical assignments of equine microsatellites--first integration of anchored markers in horse genome mapping.

Twenty equine microsatellites were isolated from a genomic phage library, and their genetical and physical localization was sought by linkage mapping and fluorescent in situ hybridization (FISH). Nineteen of the markers were found to be polymorphic with, in most cases, heterozygosities exceeding 50%. The markers were mapped in a Swedish reference family for gene mapping, comprising eight half-sib families from Standardbred and Icelandic horse sires. Segregation was analyzed against a set of 35 other markers typed in the pedigree. Thirteen of the microsatellites showed linkage to at least one other marker, with a total of 21 markers being involved in these linkages. In parallel, 18 of the microsatellites could be assigned to their chromosomal region by FISH. These assignments involved eight equine autosomes: ECA1, 2, 4, 6, 9, 10, 15, and 16. The genetical and physical mappings revealed by this study represent a significant extension of the current knowledge of the equine genome map.

Alleles↗

Bovine papillomavirus type 5: partial sequence and comparison with other bovine papillomaviruses.

Two restriction fragments of bovine papillomavirus type 5 (BPV5), of a genomic size of 1.6 and 1.2 kb were subcloned and sequenced. One of them seemed to correspond to the 3' end of the E1 open reading frame (ORF) and the other to the region of the E7, E8 and 5' end of the E1 ORF. Alignments of these fragments with other BPVs showed that BPV5 is only distantly related to the other 5 BPVs.

Base Sequence↗

Bovine papillomavirus type 4 DNA isolated from a skin lesion in a steer.

A lesion on the head of a steer, defined histologically as an epithelial papilloma, yielded DNA which did not hybridise with any of the bovine papillomavirus DNAs usually associated with the formation of skin lesions. DNA from the lesion did hybridise with DNA from bovine papillomavirus 4, even under stringent conditions, and contained a sequence that could be amplified by polymerase chain reaction with primers specific for that virus. Bovine papillomavirus 4 had previously been isolated only from lesions of the upper alimentary canal.

Animals↗

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Current evidence suggests that aniridia (absence of iris) is caused by loss of function of one copy of the PAX6 gene, which maps to 11p13. We present the further characterisation of two aniridia pedigrees in which the disease segregates with chromosomal rearrangements which involve 11p13 but do not disrupt the PAX6 gene. We have isolated three human YAC clones which encompass the PAX6 locus and we have used these to show that in both cases the chromosomal breakpoint is at least 85 kb distal of the 3' end of PAX6. In addition, the open reading frame of PAX6 is apparently free of mutations. We propose that the PAX6 gene on the rearranged chromosome 11 is in an inappropriate chromatin environment for normal expression and therefore that a 'position effect' is the underlying mechanism of disease in these families.

Aniridia↗

Mutations in the equine plasma transferrin and esterase systems.

Eleven apparent mutations of the equine plasma transferrin and esterase gene (10 in TF and one in ES) were found in an analysis of approximately 240,000 thoroughbred horses. Eight of the transferrin mutations produced variants not previously recognized in horses. In the two remaining transferrin mutations and the esterase mutation, reduced plasma concentrations of the proteins were demonstrated by immunological techniques and together with the family data indicated the existence of 'null' alleles.

Animals↗

The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome.

The human growth-arrest specific gene GAS1 maps to chromosome bands 9q21.3-->q22, the region known to contain the tumour suppressor gene responsible for nevoid basal cell carcinoma syndrome (NBCCS). Because of its putative action as a tumour suppressor gene, the GAS1 gene was analysed as a candidate for the NBCCS gene. Using two-colour fluorescence in situ hybridization, the GAS1 gene maps outside the interval which, by genetic analysis, has been shown to contain the NBCCS gene.

Animals↗

Genomic sequences of bovine papillomaviruses in formalin-fixed sarcoids from Australian horses revealed by polymerase chain reaction.

Seventy six formalin-fixed paraffin-embedded sarcoids from 62 Australian horses, collected over a ten year period, were examined for the presence of genomic sequences from bovine papillomavirus 1 and 2 (BPV1, BPV2) with the polymerase chain reaction (PCR). Sequences that could be amplified by primers specific for BPV1 and BPV2 were present in 56 of the 76 sarcoids (73%). A restriction site present in BPV1 and absent from BPV2 was detected in 28 of 34 amplified products that were treated with endonuclease.

Animals↗

Growth and protein status of term infants fed soy protein formulas differing in protein content.

OBJECTIVE: The purpose of this study was to compare growth and protein status of healthy term infants from 2 to 112 days of age fed a commercially available soy-based formula (IS) and a similar formula (EF) containing less protein (2.91 vs 2.45 g/100 kcal). DESIGN: A controlled, randomized, blind parallel clinical trial was conducted in 32 male and 32 female infants. Infants were enrolled at 2 days of age, and their assigned formula was their only feeding to 112 days of age. At this time their weight, length, and head circumference were measured. Weight, length, and head circumference were measured and formula intake, formula intolerance and stool characteristics were recorded at 8, 28, 56, and 112 days of age. Plasma urea nitrogen (PUN), total protein, albumin, and transthyretin were determined at 56 and 112 days. RESULTS: There were no statistically significant differences in weight, length, head circumference, or gains in these measures. PUN concentration was significantly lower in infants fed EF than IS at 56 and 112 days. Plasma total protein, albumin, and transthyretin concentrations were not different between the two feeding groups at the two testing periods. Tolerance to the two formulas was similar. Stool characteristics did not differ between the two groups. CONCLUSION: A soy-based formula containing 2.45 g protein/100 kcal and approximately 640 mumol of total sulfur containing amino acids/100 kcal adequately meets the protein needs of term infants from 2 to 112 days of age.

Anthropometry↗

Intrageneric amplification of horse microsatellite markers with emphasis on the Przewalski's horse (E. przewalskii).

Primer sequences flanking 13 microsatellite loci isolated from the domestic horse (E. caballus) were successfully used to amplify homologous loci in the Przewalski's horse (E. przewalskii). The results demonstrate that the level of polymorphism at all 13 loci in the Przewalski's horse was comparable to that in the domestic horse and the overall exclusion probability in the Przewalski's horse was calculated to be 0.9994. The results suggest that it should be possible to use E. caballus-derived microsatellite markers to provide parentage verification and additional valuable information to the captive management of E. przewalskii. The ability to amplify corresponding loci in the remaining five species of the genus was also confirmed, illustrating the general application of markers isolated from the domestic horse to the evaluation of polymorphism in the other six species of the genus.

Animals↗