Molecular Cytogenetic Resources for Chromosome 4 and Comparative Analysis of Phylogenetic Chromosome IV in Great Apes

Marzella, R.; Viggiano, Luigi; Miolla, Valeria; Storlazzi, Clelia Tiziana; Ricco, Angela; Gentile, Eugenia; Roberto, Roberta; Surace, Cecilia; Fratello, Angelo; Mancini, Mita; Archidiacono, Nicoletta; Rocchi, Mariano

doi:10.1006/geno.1999.6092

Cited by 27 publications

(30 citation statements)

References 14 publications

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“…GGO3 has been identified as the homolog of HSA4 by comparative banding, comparative mapping and chromosome painting (ISCN, 1995;Stanyon et al, 1986;Sawyer, 1991;Jauch et al, 1992;Ried et al, 1993). HSA4 and GGO3 appear to differ by only a pericentric inversion (Yunis and Prakash, 1982;Marzella et al, 2000). In this study, Zoo-FISH with an HSA4 painting probe confirmed the deletion but did not reveal a translocation.…”

Section: Discussionsupporting

confidence: 51%

Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome

Lear

Houck²,

Zhang³

et al. 2001

Cytogenet Genome Res

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A female bonobo (Pan paniscus) born at the San Diego Zoo exhibited inability to nurse and progressive weakness plus multiple congenital abnormalities including aural canal atresia and stenosis, malformed auricles, clenched hands, lordosis, agenesis of the caudal vertebra and cardiac abnormalities. Chromosome analysis identified the bonobo as being trisomic for chromosome 17, the homolog of human chromosome 18. Genotyping with human microsatellites suggested the extra chromosome was maternal in origin. In addition, a male lowland gorilla (Gorilla gorilla gorilla), also born at the zoo, exhibited postnatal growth retardation, facial dysmorphisms and small hands with short fingers. Karyotype analysis revealed the gorilla carried a deletion of the distal q arm of chromosome 3, the homolog of human chromosome 4. The phenotypic and karyotypic abnormalities found in the bonobo and gorilla were consistent with the characteristics of human trisomy 18 and human deletion 4q syndrome, respectively.

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Section: Discussionsupporting

confidence: 51%

Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome

Lear

Houck²,

Zhang³

et al. 2001

Cytogenet Genome Res

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“…The comparison of G-banded chromosomes and molecular cytogenetic approaches revealed that the karyotype of humans and orangutans are more similar to an ancestral hominoid karyotype than that of the African great apes (Dutrillaux, 1979;Yunis and Prakash, 1982;Nickerson and Nelson, 1998;Marzella et al, 2000;Müller and Wienberg, 2000;Kehrer-Sawatzki et al, 2002). Also, the pericentric inversion of PTR10 is the derived form and the breakpoints are divergent from the inversion of the homologous chromosome in the gorilla (Nickerson and Nelson, 1998; this study).…”

Section: Discussionmentioning

confidence: 95%

Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans

Kehrer‐Sawatzki

Sandig²,

Goidts³

et al. 2004

Cytogenet Genome Res

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During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The inversion break in PTR10p caused the disruption of the SLCO1B3 gene in exon 11. However, the 86-kb duplication includes the functional SLCO1B3 locus, which is thus retained in the chimpanzee, although inverted to PTR10q. The second duplication spans 23 kb and does not contain expressed sequences. Eleven genes map to a region of about 1 Mb around the breakpoints. Six of these eleven genes are not among the differentially expressed genes as determined previously by comparing the human and chimpanzee transcriptome of fibroblast cell lines, blood leukocytes, liver and brain samples. These findings imply that the inversion did not cause major expression differences of these genes. Comparative FISH analysis with BACs spanning the inversion breakpoints in PTR on metaphase chromosomes of gorilla (GGO) confirmed that the pericentric inversion of the chromosome 12 homologs in GGO and PTR have distinct breakpoints and that humans retain the ancestral arrangement. These findings coincide with the trend observed in hominoid karyotype evolution that humans have a karyotype close to an ancestral one, while African great apes present with more derived chromosome arrangements.

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“…Human and chimpanzee karyotypes differ by one chromosomal fusion that gave rise to human chromosome 2 (HSA2) from two ancestral chromosomes coupled to the inactivation of one of the two centromeres, at least nine pericentric inversions, and in the content of constitutive heterochromatin (Yunis et al 1980;IJdo et al 1991;Baldini et al 1993;Nickerson and Nelson 1998). Seven of these inversions, mapping to human chromosomes 4, 5, 9, 12, 15, 16, and 17, are specific to the chimpanzee lineage (Marzella et al 2000;Kehrer-Sawatzki et al 2002;Locke et al 2003;Goidts et al 2005;Kehrer-Sawatzki et al 2005a,b,c;Shimada et al 2005;Szamalek et al 2005), while the remaining two, mapping to HSA1 and HSA18, appeared in the human lineage after separation from the chimpanzee (Yunis and Prakash 1982;McConkey 1997;Dennehey et al 2004;Weise et al 2005;Szamalek et al 2006). These reorganized structures became fixed during evolution either by providing an advantage or by mere genetic drift.…”

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confidence: 99%

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

2014

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Human and chimpanzee genomes are 98.8% identical within comparable sequences. However, they differ structurally in nine pericentric inversions, one fusion that originated human chromosome 2, and content and localization of heterochromatin and lineage-specific segmental duplications. The possible functional consequences of these cytogenetic and structural differences are not fully understood and their possible involvement in speciation remains unclear. We show that subtelomeric regions-regions that have a species-specific organization, are more divergent in sequence, and are enriched in genes and recombination hotspots-are significantly enriched for species-specific histone modifications that decorate transcription start sites in different tissues in both human and chimpanzee. The human lineage-specific chromosome 2 fusion point and ancestral centromere locus as well as chromosome 1 and 18 pericentric inversion breakpoints showed enrichment of human-specific H3K4me3 peaks in the prefrontal cortex. Our results reveal an association between plastic regions and potential novel regulatory elements.

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Molecular Cytogenetic Resources for Chromosome 4 and Comparative Analysis of Phylogenetic Chromosome IV in Great Apes

Cited by 27 publications

References 14 publications

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

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