Localization of FCGR1 encoding Fcγ receptor class I in primates: molecular evidence for two pericentric inversions during the evolution of human chromosome 1

Maresco, Diane L.; Blue, L.E.; Culley, L.L.; Kimberly, Robert P.; Anderson, Clark L.; Theil, Karl S.

doi:10.1159/000015067

Cited by 18 publications

(19 citation statements)

References 13 publications

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“…Additionally, the FISH data obtained with BAC RP11-35B4 for HSA chromosome 1 can either be interpreted as result of a pericentric inversion (Yunis and Prakash, 1982) or a duplicative transposition (Maresco et al, 1998). Enlargement of 1q12 heterochromatin would have occurred in the first case afterwards; in the second case it could have appeared before or after duplicative transposition.…”

Section: Resultsmentioning

confidence: 99%

“…Matera and Marks, 1993;Ried et al, 1993;Nickerson and Nelson, 1998;Maresco et al, 1998;Tanabe, 1999;Stankiewicz et al, 2001), to the best of our knowledge this is the first study using a complex low-repeat probe for this purpose. The probe used, BAC RP11-35B4, contains 143,754 bp and derives from human chromosome 1q21.…”

Section: Discussionmentioning

confidence: 97%

“…In most Cercopitecoidea (Old World monkeys) and all Pongidae (great apes) only one homologue of human chromosome 1 is present (Jauch et al, 1992; http://www.biologia.uniba.it/primates). Yunis and Prakash (1982) had already described in their high-resolution GTG-banding study on great apes a small pericentric inversion, not recognized by later FISH-studies, apart from one (Maresco et al, 1998). Additionally, an MCB study in H. lar showed that in a comparison to human chromosome 1, homologous material is distributed on 4 HLA chromosomes, however, in seven different "portions" .…”

confidence: 96%

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New insights into the evolution of chromosome 1

Weise¹,

Starke²,

Mrasek³

et al. 2004

Cytogenet Genome Res

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A complex low-repetitive human DNA probe (BAC RP11-35B4) together with two microdissection-derived region-specific probes of the multicolor banding (MCB) probe-set for chromosome 1 were used to re-analyze the evolution of human chromosome 1 in comparison to four ape species. BAC RP11-35B4 derives from 1q21 and contains 143 kb of non-repetitive DNA; however, it produces three specific FISH signals in 1q21, 1p12 and 1p36.1 of Homo sapiens (HSA). Human chromosome 1 was studied in comparison to its homologues in Hylobates lar (HLA), Pongo pygmaeus (PPY), Gorilla gorilla (GGO) and Pan troglodytes (PTR). A duplication of sequences homologous to human 1p36.1 could be detected in PPY plus an additional signal on PPY 16q. The region homologous to HSA 1p36.1 is also duplicated in HLA, and split onto chromosomes 7q and 9p; the region homologous to HSA 1q21/1p12 is present as one region on 5q. Additionally, the breakpoint of a small pericentric inversion in the evolution of human chromosome 1 compared to other great ape species could be refined. In summary, the results obtained here are in concordance with previous reports; however, there is evidence for a deletion of regions homologous to human 1p34.2→p34.1 during evolution in the Pongidae branch after separation of PPY.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 97%

confidence: 96%

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New insights into the evolution of chromosome 1

Weise¹,

Starke²,

Mrasek³

et al. 2004

Cytogenet Genome Res

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“…Genes of the human chromosome 1 paralogous region are dispersed in two regions on the short and long arms. This split is probably a late event, and the regions were probably linked in an ancestral state 14 . b, We analyzed sequences from the Human Genome Mapping Project (HGMP) fugu-sequencing project to determine which genes were present in both the human and pufferfish MHC genomic regions.…”

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confidence: 99%

Evidence of en bloc duplication in vertebrate genomes

et al. 2002

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It has been 30 years since it was first proposed that the vertebrate genome evolved through several rounds of genome-wide duplications (polyploidizations) 1 . Despite rapid advances in genetics, including sequencing of the complete genomes of several divergent species, this hypothesis has not been tested rigorously and is still a matter of debate 2 . If polyploidizations occurred during chordate evolution, there should be a network of paralogous regions in the present-day jawed vertebrate (Gnathostomata) genomes 3 . Here we present an investigation of the major histocompatibility complex (MHC) paralogous regions, which we accomplished by characterizing the corresponding region in amphioxus by identifying nine anchor genes and sequencing both the anchor genes and the regions that flank them (a total of 400 kb). Phylogenetic analysis of 31 genes (including the anchor genes) in these regions shows that duplications occurred after the divergence of cephalochordates and vertebrates but before the Gnathostomata radiation. The distribution of human and amphioxus orthologs in their respective genomes and the relationship between these distributions support the en bloc duplication events. Our analysis represents the first step towards demonstrating that the human ancestral genome has undergone polyploidization. Moreover, reconstruction of the pre-duplicated region indicates that one of the duplicated regions retains the ancestral organization.The genomic region in amphioxus that is equivalent to the human MHC paralogous regions has been defined through several steps, including: (i) choosing anchor genes, (ii) cloning their amphioxus equivalents, (iii) isolating the corresponding amphioxus genomic regions and analyzing neighboring genes (especially their phylogenetic relationships to the human genes) and (iv) studying the distribution of the human genes that are orthologous to the amphioxus genes.We hypothesized that the MHC paralogous regions are the result of en bloc duplications that occurred before the Gnathostomata radiation. After these large-scale duplications, some of the duplicated genes probably returned to single-copy status or translocated to other chromosomal regions. We therefore used two approaches to select the anchor genes. The first approach is based on the analysis of the MHC paralogous regions. To identify paralogous genes that could result from these events, we selected Fig. 1 Definition of the anchor genes. Two main approaches were used: the analysis of the human MHC paralogous regions and establishing the preserved syntenies between human and bony fishes (Actinopterygii). a, If the paralogous regions are the result of en bloc duplications, the observed conserved syntenies were present in the ancestral genomic region before the en bloc duplication. In the case of the MHC paralogous regions, this event probably occurred at least 420 Myr ago; thus, these syntenies are also at least this old. We expanded upon previous work 13 by searching the paralogous regions to find new paralogous genes in the data...

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“…Interestingly, with metaphases from orangutan (PPY) and macaque (MFA), BAC RP11-696P19 did not hybridize to the HSA 16 homologs, but rather hybridized exclusively to the equivalents of HSA 1. The MFA I and PPY I chromosomes may be distinguished by a pericentric inversion which occurred in the Old World monkey lineage about 25 million years ago (Mya), after their divergence from the hominoid lineage (Dutrillaux et al 1979;Maresco et al 1998). After the separation of the orangutan lineage from that of the other great apes, a duplicational interchromosomal transposition to the ancestral chromosome XVIq occurred, which involved the region covered by BAC RP11-696P19.…”

Section: Evolutionary History Of the Breakpoint Regionsmentioning

confidence: 99%

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16

Goidts¹,

Szamalek²,

Jong³

et al. 2005

Genome Res.

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Analyses of chromosomal rearrangements that have occurred during the evolution of the hominoids can reveal much about the mutational mechanisms underlying primate chromosome evolution. We characterized the breakpoints of the pericentric inversion of chimpanzee chromosome 18 (PTR XVI), which is homologous to human chromosome 16 (HSA 16). A conserved 23-kb inverted repeat composed of satellites, LINE and Alu elements was identified near the breakpoints and could have mediated the inversion by bringing the chromosomal arms into close proximity with each other, thereby facilitating intrachromosomal recombination. The exact positions of the breakpoints may then have been determined by local DNA sequence homologies between the inversion breakpoints, including a 22-base pair direct repeat. The similarly located pericentric inversion of gorilla (GGO) chromosome XVI, was studied by FISH and PCR analysis. The p-and q-arm breakpoints of the inversions in PTR XVI and GGO XVI were found to occur at slightly different locations, consistent with their independent origin. Further, FISH studies of the homologous chromosomal regions in macaque and orangutan revealed that the region represented by HSA BAC RP11-696P19, which spans the inversion breakpoint on HSA 16q11-12, was derived from the ancestral primate chromosome homologous to HSA 1. After the divergence of orangutan from the other great apes ∼12 million years ago (Mya), a duplication of the corresponding region occurred followed by its interchromosomal transposition to the ancestral chromosome 16q. Thus, the most parsimonious interpretation is that the gorilla and chimpanzee homologs exhibit similar but nonidentical derived pericentric inversions, whereas HSA 16 represents the ancestral form among hominoids.

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Localization of FCGR1 encoding Fcγ receptor class I in primates: molecular evidence for two pericentric inversions during the evolution of human chromosome 1

Cited by 18 publications

References 13 publications

New insights into the evolution of chromosome 1

New insights into the evolution of chromosome 1

Evidence of en bloc duplication in vertebrate genomes

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16

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