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Biomedical subjects

A Eggen

Publications and source records attributed to A Eggen.

At least 37 records · Page 2Linked to original sources
PubMed2003

Development of a comprehensive comparative radiation hybrid map of bovine chromosome 7 (BTA7) versus human chromosomes 1 (HSA1), 5 (HSA5) and 19 (HSA19).

In this study, we present a comprehensive 3,000-rad radiation hybrid (RH) map of bovine chromosome 7 (BTA7) with 108 markers including 54 genes or ESTs. For 52 of them, a human ortholog sequence was found either on HSA1 (one gene), HSA5 (31 genes) or HSA19 (19 genes and one non-annotated sequence) confirming previously described syntenies. Moreover, in order to refine boundaries of blocks of conserved synteny, nine new genes were mapped to the bovine genome on the basis of their localization on the human genome: six on BTA7 and originating from HSA1 (TRIM17), HSA5 (MAN2A1, LMNB1, SIAT8D and FLJ1159) and HSA19 (VAV1), and the three others (AP3B1, APC and CCNG1) on BTA10. The available draft of the human genome sequence allowed us to present a detailed picture of the distribution of conserved synteny segments between man and cattle. Finally, the INRA bovine BAC library was screened for most of the BTA7 markers considered in this study to provide anchors for the bovine physical map.

Animals↗
PubMed2003

Comparative FISH-mapping of the survival of motor neuron gene (SMN) in domestic bovids.

A comparative fluorescence in situ mapping of the SMN gene was performed on R-banded chromosome preparations of cattle (Bos taurus, BTA, 2n = 60), river buffalo (Bubalus bubalis, BBU, 2n = 50), sheep (Ovis aries, OAR, 2n = 54) and goat (Capra hircus, CHI, 2n = 60), as well as on those of a calf from Piedmont breed affected by arthrogryposis. SMN was located on BTA20q13.1, OAR16q13.1, CHI20q13.1 and BBU19q13. These chromosomes and chromosome bands are believed to be homeologous, confirming the high degree of chromosome homeologies among bovids. The position of SMN was refined in cattle, compared to the two previous localizations, while it is a new gene assignment in the other three bovids. A comparative fiber-FISH performed on extended chromatin of both normal cattle and calf affected by arthrogryposis revealed more extended FITC signals in the calf, compared to the normal cattle (control), suggesting a possible duplication of the SMN gene in the calf affected by arthrogryposis. .

Animals↗
PubMed2003

The river buffalo (Bubalus bubalis, 2n = 50) cytogenetic map: assignment of 64 loci by fluorescence in situ hybridization and R-banding.

Sixty-four genomic BAC-clones mapping five type I (ADCYAP1, HRH1, IL3, RBP3B and SRY) and 59 type II loci, previously FISH-mapped to goat (63 loci) and cattle (SRY) chromosomes, were fluorescence in situ mapped to river buffalo R-banded chromosomes, noticeably extending the physical map of this species. All mapped loci from 26 bovine syntenic groups were located on homeologous chromosomes and chromosome regions of river buffalo and goat (cattle) chromosomes, confirming the high degree of chromosome homeologies among bovids. Furthermore, an improved cytogenetic map of the river buffalo with 293 loci from all 31 bovine syntenic groups is reported.

Animals↗
PubMed2001

Syntenic assignment of sixteen genes from the long arm of human chromosome 10 to bovine chromosomes 26 and 28: refinement of the comparative map.

A comparative mapping approach was applied in order to refine the extent and the distribution of conserved segments between the long arm of human chromosome 10 (HSA10) and cattle chromosomes 26 and 28 (BTA26 and BTA28 respectively). Sixteen genes localised on the long arm of HSA10 were mapped using a bovine-hamster somatic cell hybrid panel: twelve represent new assignments in cattle; the four others are in agreement with previous published data. This study confirms and refines the boundaries of the disruption zones between HSA10 and, BTA26 and BTA28, at the level of the human cytogenetic band.

Alleles↗
PubMed2001

Organization of the bovine alpha 2-fucosyltransferase gene cluster suggests that the Sec1 gene might have been shaped through a nonautonomous L1-retrotransposition event within the same locus.

By referring to the split coding sequence of the highly conserved alpha 6-fucosyltransferase gene family (assumed to be representative of the common alpha 2 and alpha 6 fucosyltransferase gene ancestor), we have hypothesized that the monoexonic coding sequences of the present alpha 2-fucosyltransferase genes have been shaped in mammals by several events of retrotransposition and/or duplication. In order to test our hypothesis, we determined the structure of the three bovine alpha 2-fucosyltransferase genes (bfut1, bfut2, and sec1) and analyzed their characteristics compared with their human counterparts (FUT1, FUT2, and Sec1). We show that in mammals, a complex nonautonomous L1-retrotransposition event occurred within the locus of the alpha 2-fucosyltransferase ancestor gene itself. A consequence of this event was the processing in Catarrhini of a Sec1 pseudogene via several point mutations.

Animals↗
PubMed2001

A case of trisomy 28 in cattle revealed by both banding and FISH-mapping techniques.

A case of presumed trisomy 22 in cattle, as earlier reported, was investigated by using both chromosome banding and FISH-mapping techniques. A one year old Hereford female calf showed slow growth, brachygnathia superior, hyper-salivation. strabisbusmus convergence, macroclitoris and supernumerary nipples. At necropsy, a duplication of the uterine cervix and an extra aortic cusp were also observed. The R-banding technique revealed that BTA28 (not BTA22, as erroneously earlier reported) was involved in the trisomy. This was confirmed by FISH-mapping with chromosome-specific markers. Phenotypic characteristics achieved in cattle carrier and those earlier reported in humans carrying partial trisomy 10 were discussed.

Animals↗
PubMed2001

A pericentric inversion in the cattle Y chromosome.

Sixteen male Podolian cattle, two sires and their 14 male offspring, were investigated cytogenetically on the basis of a female-like phenotype found in one of them. Eleven male offspring, including the one with female traits, and one of the two sires were found to carry an abnormal Y chromosome which originated from a pericentric inversion of the proximal half of the Yq arm (Yq11-->q12.2), as demonstrated by both banding and FISH mapping techniques with Y-specific molecular markers.

Animals↗
PubMed2001

Assignment of eight additional genes from human chromosome 11 to bovine chromosomes 15 and 29: refinement of the comparative map.

A comparative mapping approach was applied in order to refine the extent and the distribution of conserved segments between human chromosome 11 (HSA11) and cattle chromosomes 15 and 29 (BTA15 and BTA29 respectively). Eight genes from HSA11 were mapped using a bovine-hamster somatic cell hybrid panel and seven represent new assignments. Adding these assignments to those present in human, mouse and cattle databases, a new conserved segment was identified between the telomeric region of HSA11 and BTA29. This brings to seven the number of conserved segments identified between HSA11 and BTA15 and 29, and our study refines their boundaries to the level of the human cytogenetic band.

Animals↗
PubMed2001

A case of azoospermia in a bull carrying a Y-autosome reciprocal translocation.

During normal cytogenetic investigations on the Chianina cattle (BTA) breed, a normal looking young bull was found to carry an abnormal Y chromosome which was a product of a reciprocal translocation between chromosomes Y and 9. This was revealed by both CBA- and RBG-banding techniques and was clearly confirmed by FISH-mapping analysis with IDVGA50 (which paints the complete Yq arm in a normal Y), as well as with AMD1, CGA, IGF2R (mapping to BTA9q16, BTA9q22 and BTA9q27-->q28, respectively) and SRY (mapping to normal BTAYq23). Analysis on sperm from four different samples revealed azoospermia in the carrier, indicating that the rcp(Y;9) induces sterility in the bull.

Animals↗
PubMed2000

Assignment of 60 human ESTs in cattle.

As part of the human genome study, large-scale cDNA sequencing has produced thousands of Expressed Sequence Tags (ESTs). Généthon has mapped in human 10,000 of these ESTs and has shown that the primers of about 1000 ESTs could amplify bovine DNA. In this work, we have analyzed 233 primer pairs provided by Genethon, to assign type I sequences to the bovine genome by using a hamster-bovine somatic cell hybrid panel. Among these 233 primer pairs, 109 gave a specific PCR product with bovine genomic DNA, but for 50% the size of the PCR product was the same in cattle and hamster, requiring SSCP analysis. Finally, 60 ESTs were assigned to the bovine genome, and among them 46 were found on the bovine chromosome expected from heterologous painting data between cattle and human.

Animals↗
PubMed2000

Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes.

A series of 31 marker genes (one per chromosome) were localized precisely to both Q- and R-banded bovine chromosomes by fluorescence in situ hybridization (FISH), as a contribution to the revised chromosome nomenclature of the three major domestic bovidae (cattle, sheep and goat). All marker genes except one (LDHA) are taken from the Texas Nomenclature of the cattle karyotype published in 1996. Homologous probes for each marker gene were obtained by screening a bovine BAC library by PCR with specific primer pairs. After labeling with biotin, each probe preparation was divided into two fractions and hybridized to bovine chromosomes identified either by Q or R banding. Clear signals and good quality band patterns were observed in all cases. Results of the two series of hybridizations are totally concordant both for Q and R band chromosome numbering and precise band localization. This work permits an unambiguous correlation between the Q/G- and R-banded 31 bovine chromosomes, including chromosomes 25, 27 and 29 which remained unresolved in the Texas Nomenclature (1996). Hybridization of the chromosome 29 marker gene to metaphase spreads from a 1;29 Robertsonian translocation bull carrier showed a positive signal on the short arm of this rearranged chromosome, confirming that the numbering of this long-known translocation in cattle is correct when referring to the Texas Nomenclature (1996). Taking into account that cattle, goat and sheep have very similar banded karyotypes, the data presented here will help to establish a definite and complete reference chromosome nomenclature for these species.

Animals↗