메뉴 건너뛰기




Volumn 13, Issue 6, 2003, Pages 629-635

Duplicate, decouple, disperse: The evolutionary transience of human centromeric regions

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN; CYTOCHROME P450; GLUTAMATE DEHYDROGENASE; NEUROFIBROMIN; REPETITIVE DNA; TRANSCRIPTION FACTOR;

EID: 0344153498     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2003.10.011     Document Type: Review
Times cited : (15)

References (42)
  • 1
    • 0035431654 scopus 로고    scopus 로고
    • Domain organization at the centromere and neocentromere
    • Choo K.H. Domain organization at the centromere and neocentromere. Dev Cell. 1:2001;165-177.
    • (2001) Dev Cell , vol.1 , pp. 165-177
    • Choo, K.H.1
  • 2
    • 0037459109 scopus 로고    scopus 로고
    • Centromeres and kinetochores: From epigenetics to mitotic checkpoint signalling
    • Cleveland D.W., Mao Y., Sullivan K.F. Centromeres and kinetochores: from epigenetics to mitotic checkpoint signalling. Cell. 112:2003;407-421.
    • (2003) Cell , vol.112 , pp. 407-421
    • Cleveland, D.W.1    Mao, Y.2    Sullivan, K.F.3
  • 3
    • 0031767665 scopus 로고    scopus 로고
    • Stable dicentric X chromosomes with two functional centromeres
    • Sullivan B.A., Willard H.F. Stable dicentric X chromosomes with two functional centromeres. Nat Genet. 20:1998;227-228.
    • (1998) Nat Genet , vol.20 , pp. 227-228
    • Sullivan, B.A.1    Willard, H.F.2
  • 4
    • 0036783383 scopus 로고    scopus 로고
    • Neocentromeres: Role in human disease, evolution, and centromere
    • Amor D.J., Choo K.H. Neocentromeres: role in human disease, evolution, and centromere. Am J Hum Genet. 71:2002;695-714.
    • (2002) Am J Hum Genet , vol.71 , pp. 695-714
    • Amor, D.J.1    Choo, K.H.2
  • 5
    • 0035839066 scopus 로고    scopus 로고
    • The centromere paradox: Stable inheritance with rapidly evolving DNA
    • Henikoff S., Ahmad K., Malik H.S. The centromere paradox: stable inheritance with rapidly evolving DNA. Science. 293:2001;1098-1102.
    • (2001) Science , vol.293 , pp. 1098-1102
    • Henikoff, S.1    Ahmad, K.2    Malik, H.S.3
  • 6
    • 0035475786 scopus 로고    scopus 로고
    • Lessons from the human genome: Transitions between euchromatin and heterochromatin
    • Horvath J.E., Bailey J.A., Locke D.P., Eichler E.E. Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum Mol Genet. 10:2001;2215-2223.
    • (2001) Hum Mol Genet , vol.10 , pp. 2215-2223
    • Horvath, J.E.1    Bailey, J.A.2    Locke, D.P.3    Eichler, E.E.4
  • 7
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium (IHGSC): Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
    • (2001) Nature , vol.409 , pp. 860-921
  • 8
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current human genome project assembly
    • Bailey J.A., Yavor A.M., Massa H.F., Trask B.J., Eichler E.E. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 11:2001;1005-1017.
    • (2001) Genome Res , vol.11 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3    Trask, B.J.4    Eichler, E.E.5
  • 12
    • 10744222471 scopus 로고    scopus 로고
    • Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications
    • The most comprehensive analysis to date of a single pericentromeric segmental duplication in primate genomes. It uses fluorescence in situ hybridisation, library screening, sequencing, phylogenetics and somatic cell hybrid analyses in an effort to map all of the known human PIR4 variants and to establish their origin. The duplication dynamics that are uncovered conform to the two-step model of pericentromeric-directed duplication, whereas analyses of human loci highlight the poor representation of PIR4 in the current human draft sequence. A further 15 novel PIR4 bacterial artificial chromosomes are identified that can be used to enhance existing sequence data.
    • Horvath J.E., Gulden C.L., Bailey J.A., Yohn C., McPherson J.D., Prescott A., Roe B.A., De Jong P.J., Ventura M., Misceo D.et al. Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol. 9:2003;1184-1188 The most comprehensive analysis to date of a single pericentromeric segmental duplication in primate genomes. It uses fluorescence in situ hybridisation, library screening, sequencing, phylogenetics and somatic cell hybrid analyses in an effort to map all of the known human PIR4 variants and to establish their origin. The duplication dynamics that are uncovered conform to the two-step model of pericentromeric-directed duplication, whereas analyses of human loci highlight the poor representation of PIR4 in the current human draft sequence. A further 15 novel PIR4 bacterial artificial chromosomes are identified that can be used to enhance existing sequence data.
    • (2003) Mol Biol Evol , vol.9 , pp. 1184-1188
    • Horvath, J.E.1    Gulden, C.L.2    Bailey, J.A.3    Yohn, C.4    McPherson, J.D.5    Prescott, A.6    Roe, B.A.7    De Jong, P.J.8    Ventura, M.9    Misceo, D.10
  • 13
    • 0036196707 scopus 로고    scopus 로고
    • Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q
    • The first cytogenetic analysis of a human pericentromeric segmental duplication family to catalogue the extent of polymorphic variation in a control population. It establishes the size and marker order in the segmental duplications (~1 Mb), confirms that no phenotype is associated with the observed copy number variations, and highlights the difficulty in mapping pericentromeric duplications accurately.
    • Fantes J.A., Mewborn S.K., Lese C.M., Hedrick J., Brown R.L., Dyomin V., Chaganti R.S., Christian S.L., Ledbetter D.H. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J Med Genet. 39:2002;170-177 The first cytogenetic analysis of a human pericentromeric segmental duplication family to catalogue the extent of polymorphic variation in a control population. It establishes the size and marker order in the segmental duplications (~1 Mb), confirms that no phenotype is associated with the observed copy number variations, and highlights the difficulty in mapping pericentromeric duplications accurately.
    • (2002) J Med Genet , vol.39 , pp. 170-177
    • Fantes, J.A.1    Mewborn, S.K.2    Lese, C.M.3    Hedrick, J.4    Brown, R.L.5    Dyomin, V.6    Chaganti, R.S.7    Christian, S.L.8    Ledbetter, D.H.9
  • 14
    • 18244396646 scopus 로고    scopus 로고
    • Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
    • This analysis of a gene-derived family of primate-specific segmental duplications provides some of the clearest evidence that interchromosomal and intrachromosomal duplication mechanisms are distinct. Paralogues of this gene fall into two distinct classes with different distributions and duplication dynamics; a centromere-specific class linked to pericentromeric satellites and a chromosome-specific family linked to other chromosome-specific segmental duplications.
    • Crosier M., Viggiano L., Guy J., Misceo D., Stones R., Wei W., Hearn T., Ventura M., Archidiacono N., Rocchi M., Jackson M.S. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res. 12:2002;67-80 This analysis of a gene-derived family of primate-specific segmental duplications provides some of the clearest evidence that interchromosomal and intrachromosomal duplication mechanisms are distinct. Paralogues of this gene fall into two distinct classes with different distributions and duplication dynamics; a centromere-specific class linked to pericentromeric satellites and a chromosome-specific family linked to other chromosome-specific segmental duplications.
    • (2002) Genome Res , vol.12 , pp. 67-80
    • Crosier, M.1    Viggiano, L.2    Guy, J.3    Misceo, D.4    Stones, R.5    Wei, W.6    Hearn, T.7    Ventura, M.8    Archidiacono, N.9    Rocchi, M.10    Jackson, M.S.11
  • 15
    • 0035154373 scopus 로고    scopus 로고
    • Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (Lcr15) on 15q11-q13, 15q24, and 15q26
    • Pujana M.A., Nadal M., Gratacos M., Peral B., Csiszar K., Gonzalez-Sarmiento R., Sumoy L., Estivill X. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (Lcr15) on 15q11-q13, 15q24, and 15q26. Genome Res. 11:2001;98-111.
    • (2001) Genome Res , vol.11 , pp. 98-111
    • Pujana, M.A.1    Nadal, M.2    Gratacos, M.3    Peral, B.4    Csiszar, K.5    Gonzalez-Sarmiento, R.6    Sumoy, L.7    Estivill, X.8
  • 16
    • 0025901088 scopus 로고
    • Parameters of the human genome
    • Morton N.E. Parameters of the human genome. Proc Natl Acad Sci USA. 88:1991;7474-7476.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 7474-7476
    • Morton, N.E.1
  • 20
    • 0041334086 scopus 로고    scopus 로고
    • Chromosome 6 phylogeny in primates and centromere repositioning
    • This fluorescence in situ hybridisation based phylogenetic analysis of human chromosome 6 identifies two centromere-repositioning events. The historical location of one of the ancestral centromeres, present in the common ancestor of apes, is delineated by the same methodology to a region of ~9 Mb on 6p22.1, which contains a dense cluster of primarily chromosome-specific segmental duplications.
    • Eder V., Ventura M., Ianigro M., Teti M., Rocchi M., Archidiacono N. Chromosome 6 phylogeny in primates and centromere repositioning. Mol Biol Evol. 20:2003;1506-1512 This fluorescence in situ hybridisation based phylogenetic analysis of human chromosome 6 identifies two centromere-repositioning events. The historical location of one of the ancestral centromeres, present in the common ancestor of apes, is delineated by the same methodology to a region of ~9 Mb on 6p22.1, which contains a dense cluster of primarily chromosome-specific segmental duplications.
    • (2003) Mol Biol Evol , vol.20 , pp. 1506-1512
    • Eder, V.1    Ventura, M.2    Ianigro, M.3    Teti, M.4    Rocchi, M.5    Archidiacono, N.6
  • 21
    • 0042651065 scopus 로고    scopus 로고
    • Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
    • •] that establishes the recent phylogeny of human chromosomes 14 and 15, and delineates the site of an ancestral centromere in 15q25. This analysis also delineates the position of two neocentromeres in the same region and establishes that they do not map to the site of the ancestral centromere. All three centromeres (one ancestral, two neo), however, map within 500 kb of chromosome-specific segmental duplications that are enriched in this region. The authors propose that the segmental-duplication- rich architecture is a by-product of centromere inactivation.
    • •] that establishes the recent phylogeny of human chromosomes 14 and 15, and delineates the site of an ancestral centromere in 15q25. This analysis also delineates the position of two neocentromeres in the same region and establishes that they do not map to the site of the ancestral centromere. All three centromeres (one ancestral, two neo), however, map within 500 kb of chromosome-specific segmental duplications that are enriched in this region. The authors propose that the segmental-duplication-rich architecture is a by-product of centromere inactivation.
    • (2003) Genome Res , vol.13 , pp. 2059-2068
    • Ventura, M.1    Mudge, J.M.2    Palumbo, V.3    Burn, S.4    Blennow, E.5    Pierluigi, M.6    Giorda, R.7    Zuffardi, O.8    Archidiacono, N.9    Jackson, M.S.10    Rocchi, M.11
  • 22
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P., Lupski J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18:2002;74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 23
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • The most comprehensive in silico analysis of recent duplications in the human genome so far. Although not the most recent [34], this analysis is extremely powerful because the depth of sequence coverage obtained during the private whole shotgun sequencing effort (which should show no copy number bias) is used as an independent estimator of copy number in an analysis of the public sequence (which is directed and non-random in nature). This identifies a strong relationship between segmental duplication position and disease, identifies numerous candidate areas of instability, and flags for more detailed analysis regions in the public sequence that appear to be multiple copy.
    • Bailey J.A., Gu Z., Clark R.A., Reinert K., Samonte R.V., Schwartz S., Adams M.D., Myers E.W., Li P.W., Eichler E.E. Recent segmental duplications in the human genome. Science. 297:2002;1003-1007 The most comprehensive in silico analysis of recent duplications in the human genome so far. Although not the most recent [34], this analysis is extremely powerful because the depth of sequence coverage obtained during the private whole shotgun sequencing effort (which should show no copy number bias) is used as an independent estimator of copy number in an analysis of the public sequence (which is directed and non-random in nature). This identifies a strong relationship between segmental duplication position and disease, identifies numerous candidate areas of instability, and flags for more detailed analysis regions in the public sequence that appear to be multiple copy.
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1    Gu, Z.2    Clark, R.A.3    Reinert, K.4    Samonte, R.V.5    Schwartz, S.6    Adams, M.D.7    Myers, E.W.8    Li, P.W.9    Eichler, E.E.10
  • 24
    • 0037837485 scopus 로고    scopus 로고
    • Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    • Cheung J., Estivill X., Khaja R., MacDonald J.R., Lau K., Tsui L.C., Scherer S.W. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol. 4:2003;R25.
    • (2003) Genome Biol , vol.4 , pp. 25
    • Cheung, J.1    Estivill, X.2    Khaja, R.3    MacDonald, J.R.4    Lau, K.5    Tsui, L.C.6    Scherer, S.W.7
  • 25
    • 0028786666 scopus 로고
    • Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms
    • Tusie-Luna M.T., White P.C. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA. 92:1995;10796-10800.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 10796-10800
    • Tusie-Luna, M.T.1    White, P.C.2
  • 26
    • 17944367325 scopus 로고    scopus 로고
    • A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
    • Gratacos M., Nadal M., Martin-Santos R., Pujana M.A., Gago J., Peral B., Armengol L., Ponsa I., Miro R., Bulbena A.et al. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disoA failure to find dup25 In Patients With Anxiety Disorders In Control Individuals A. Or In Previously Reported Positive Control Cell lines
    • (2001) Cell , vol.106 , pp. 367-379
    • Gratacos, M.1    Nadal, M.2    Martin-Santos, R.3    Pujana, M.A.4    Gago, J.5    Peral, B.6    Armengol, L.7    Ponsa, I.8    Miro, R.9    Bulbena, A.10
  • 27
    • 0037371322 scopus 로고    scopus 로고
    • A failure to find dup25 in patients with anxiety disorders in control individuals, or in previously reported positive control cell lines
    • Tabiner M, Youings S, Dennis N, Baldwin D, Buis C, Mayers A, Jacobs PA, And Crolla J: A failure to find dup25 in patients with anxiety disorders in control individuals, or in previously reported positive control cell lines. Am J Hum Genet 2003, 72:535-538.
    • (2003) Am J Hum Genet , vol.72 , pp. 535-538
    • Tabiner, M.1    Youings, S.2    Dennis, N.3    Baldwin, D.4    Buis, C.5    Mayers, A.6    Jacobs, P.A.7    Crolla, J.8
  • 29
    • 0036852244 scopus 로고    scopus 로고
    • Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions
    • The second of two back-to-back papers from the same group that meticulously analyse ~600 kb of sequence flanking the site of the most recent chromosome fusion event within the human genome using both experimental and in silico approaches. The patchwork nature of subtelomeric and pericentromeric sequences is clearly presented, and the extent and speed of gene creation, particularly at subtelomeric locations, are striking.
    • Fan Y., Newman T., Linardopoulou E., Trask B.J. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14. 1 and paralogous regions. Genome Res. 12:2002;1663-1672 The second of two back-to-back papers from the same group that meticulously analyse ~600 kb of sequence flanking the site of the most recent chromosome fusion event within the human genome using both experimental and in silico approaches. The patchwork nature of subtelomeric and pericentromeric sequences is clearly presented, and the extent and speed of gene creation, particularly at subtelomeric locations, are striking.
    • (2002) Genome Res , vol.12 , pp. 1663-1672
    • Fan, Y.1    Newman, T.2    Linardopoulou, E.3    Trask, B.J.4
  • 31
    • 0036245495 scopus 로고    scopus 로고
    • Segmental duplications and the evolution of the primate genome
    • Samonte R.V., Eichler E.E. Segmental duplications and the evolution of the primate genome. Nat Rev Genet. 3:2002;65-72.
    • (2002) Nat Rev Genet , vol.3 , pp. 65-72
    • Samonte, R.V.1    Eichler, E.E.2
  • 32
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • Eichler E.E. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet. 17:2001;661-669.
    • (2001) Trends Genet , vol.17 , pp. 661-669
    • Eichler, E.E.1
  • 33
    • 0035895567 scopus 로고    scopus 로고
    • Birth of two chimeric genes in the Hominidae lineage
    • Courseaux A., Nahon J.L. Birth of two chimeric genes in the Hominidae lineage. Science. 291:2001;1293-1297.
    • (2001) Science , vol.291 , pp. 1293-1297
    • Courseaux, A.1    Nahon, J.L.2
  • 34
    • 17944365053 scopus 로고    scopus 로고
    • Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere
    • Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L., Hu S., Birren B., Minoshima S., Shimizu N.et al. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res. 11:2001;1053-1070.
    • (2001) Genome Res , vol.11 , pp. 1053-1070
    • Footz, T.K.1    Brinkman-Mills, P.2    Banting, G.S.3    Maier, S.A.4    Riazi, M.A.5    Bridgland, L.6    Hu, S.7    Birren, B.8    Minoshima, S.9    Shimizu, N.10
  • 36
    • 0037209116 scopus 로고    scopus 로고
    • Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11
    • Bridgland L., Footz T.K., Kardel M.D., Riazi M.A., McDermid H.E. Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11. Hum Genet. 112:2003;57-61.
    • (2003) Hum Genet , vol.112 , pp. 57-61
    • Bridgland, L.1    Footz, T.K.2    Kardel, M.D.3    Riazi, M.A.4    McDermid, H.E.5
  • 37
    • 0037380764 scopus 로고    scopus 로고
    • BAGE genes generated by juxtacentromeric reshuffling in the hominidae lineage are under selective pressure
    • The authors present the best evidence for gene creation through pericentromeric-directed duplication. The genes are clearly functional, are chimaeric, and have been physically relocated during primate evolution. However, detailed analysis of the progenitor loci or functional analyses of the gene products will be required to establish whether pericentromeric shuffling is important in this process.
    • Ruault M., Ventura M., Galtier N., Brun M.E., Archidiacono N., Roizes G.G., De Sario A. BAGE genes generated by juxtacentromeric reshuffling in the hominidae lineage are under selective pressure. Genomics. 81:2003;391-399 The authors present the best evidence for gene creation through pericentromeric- directed duplication. The genes are clearly functional, are chimaeric, and have been physically relocated during primate evolution. However, detailed analysis of the progenitor loci or functional analyses of the gene products will be required to establish whether pericentromeric shuffling is important in this process.
    • (2003) Genomics , vol.81 , pp. 391-399
    • Ruault, M.1    Ventura, M.2    Galtier, N.3    Brun, M.E.4    Archidiacono, N.5    Roizes, G.G.6    De Sario, A.7
  • 39
    • 1542563409 scopus 로고    scopus 로고
    • Mouse Genome Sequencing Consortium: Initial sequencing and comparative analysis of the mouse genome
    • Mouse Genome Sequencing Consortium: Initial sequencing and comparative analysis of the mouse genome. Nature 2002, 420:520-562.
    • (2002) Nature , vol.420 , pp. 520-562
  • 41
    • 0037348842 scopus 로고    scopus 로고
    • Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation
    • Courseaux A., Richard F., Grosgeorge J., Ortola C., Viale A., Turc-Carel C., Dutrillaux B., Gaudray P., Nahon J.L. Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation. Genome Res. 13:2003;369-381.
    • (2003) Genome Res , vol.13 , pp. 369-381
    • Courseaux, A.1    Richard, F.2    Grosgeorge, J.3    Ortola, C.4    Viale, A.5    Turc-Carel, C.6    Dutrillaux, B.7    Gaudray, P.8    Nahon, J.L.9
  • 42
    • 0041878461 scopus 로고    scopus 로고
    • Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
    • Armengol L., Pujana M.A., Cheung J., Scherer S.W., Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet. 12:2003;2201-2208.
    • (2003) Hum Mol Genet , vol.12 , pp. 2201-2208
    • Armengol, L.1    Pujana, M.A.2    Cheung, J.3    Scherer, S.W.4    Estivill, X.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.