Anchored reference loci for comparative genome mapping in mammals

O’Brien, Stephen J.; Womack, James E.; Lyons, Leslie A.; Moore, Karen J.; Jenkins, Nancy A.; Copeland, Neal G.

doi:10.1038/ng0293-103

Cited by 422 publications

(191 citation statements)

References 133 publications

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“…However, comparative gene mapping between pig and human demonstrates intrachromosomal rearrangements since the divergence of the two species (Johansson et al 1995). Limited mapping data in cat also indicate intrachromosomal rearrangements with respect to the human genome (O'Brien et al 1993(O'Brien et al , 1997a. Furthermore, the mouse gene map shows that three chromosomes share synteny conservation with HSA4.…”

Section: Hsa4mentioning

confidence: 98%

“…The mammalian X chromosome is considered to have retained the original genetic constitution of a common ancestor of the eutherian mammals (Graves and Watson 1991). This is evident from the almost identical banding patterns, morphology (with the exception of ruminantia), and gene content (Ohno et al 1964;O'Brien et al 1993;Gallagher et al 1994;Morizot 1994;Hayes 1995;Rettenberger et al 1995a;Chowdhary et al 1996). Notwithstanding the high degree of conservation, the rearranged order of genes on the X chromosome suggests intrachromosomal rearrangements (Nadeau 1989;Farr and Goodfellow 1992).…”

Section: Conservation Of Whole Chromosome Syntenymentioning

confidence: 99%

“…Comparisons between genomes could either be based on conventional and molecular cytogenetic approaches or on the available gene mapping data. Over the past decade, comparative genome analysis has emerged not merely as an off shoot from the main stream gene mapping efforts carried out in various mammalian species, but has evolved as a separate field of research, having practical implications on different aspects of biological/genetical research (O'Brien et al 1993(O'Brien et al , 1997aComparative Genome Organization 1996;Eppig 1996;Lyons et al 1997).…”

mentioning

confidence: 99%

“…A straightforward explanation for this is that the gene maps of these two species are (and will continue to be) by far the most developed or map rich among mammals (O'Brien et al 1993;Womack and Kata 1995). Conversely, other mammalian species have poorly developed maps primarily the result of a fewer number of laboratories involved and/ or limited funding available.…”

mentioning

confidence: 99%

“…Subsequent Zoo-FISH studies predominantly used human chromosome-specific plasmid or PCR-generated library DNA probes, because these were the first available (e.g., Collins et al 1991;Vooijs et al 1993), and obtaining highly concentrated DNA probes was straightforward. Because the human genome is by far the most densely mapped among mammalian species, its map serves as that of a master mammalian genome (O'Brien et al 1993). To date, comparative chromosomal maps of eight mammalian species of three different orders (excluding Primates) have been generated by Zoo-FISH.…”

mentioning

confidence: 99%

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Emerging Patterns of Comparative Genome Organization in Some Mammalian Species as Revealed by Zoo-FISH

Chowdhary¹,

Raudsepp²,

Frönicke³

et al. 1998

Genome Res.

211

142

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Although gene maps for a variety of evolutionarily diverged mammalian species have expanded rapidly during the past few years, until recently it has been difficult to precisely define chromosomal segments that are homologous between species. A solution to this problem has come from the development of Zoo-FISH, also known as cross-species chromosome painting. The use of Zoo-FISH to identify regions of chromosomal homology has allowed the transfer of information from map-rich species such as human and mouse to a wide variety of other species. From a Zoo-FISH analysis spanning four mammalian orders (Primates, Artiodactyla, Carnivora, and Perissodactyla), and involving eight species (human, pig, cattle, Indian muntjac, cat, American mink, harbor seal, and horse), three distinct classes of synteny conservation have been designated: (1) conservation of whole chromosome synteny, (2) conservation of large chromosomal blocks, and (3) conservation of neighboring segment combinations. This analysis has also made it possible to identify a set of chromosome segments (based on human chromosome equivalents) that probably made up the karyotype of the common ancestor of the four orders. This approach provides a basis for developing a picture of the ancestral mammalian karyotype, but a full understanding will depend on studies encompassing more diverse combinations of mammalian orders.

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Section: Hsa4mentioning

confidence: 98%

Section: Conservation Of Whole Chromosome Syntenymentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Emerging Patterns of Comparative Genome Organization in Some Mammalian Species as Revealed by Zoo-FISH

Chowdhary¹,

Raudsepp²,

Frönicke³

et al. 1998

Genome Res.

211

142

View full text Add to dashboard Cite

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

et al. 1998

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

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