Breakpoints in Alpha, Beta, and Satellite III DNA Sequences of Chromosome 9 Result in a Variety of Pericentric Inversions

Overview

Journal J Med Genet

Specialty Genetics

Date 1996 May 1

PMID 8733050

Citations 8

Authors

K H Ramesh

R S Verma

Affiliations

Soon will be listed here.

Abstract

Human chromosome 9 with a pericentric inversion involving the qh region is considered normal. It has probably evolved through breakage and reunion and is retained through mendelian inheritance without any apparent phenotypic consequences. Fluorescent in situ hybridisation (FISH) technique using alpha, beta, and satellite III DNA probes showed that the breakpoints are variable and can be localised in the alpha or in the satellite III and beta DNA regions or both. Three types of inversions are proposed which appear similar by CBG banding: pericentric inversions with two alphoid, one beta, and one satellite III hybridisation signals were classified as type A. Type B were those with two beta, one alpha, and one satellite III hybridisation signals, while type C was complex, and most likely involved two inversions, since two separate hybridisation signals were detected in each of the alphoid, beta satellite, and satellite III DNA regions. Based on eight cases, type A is likely to be the most frequent, but the frequencies, which at present appear non-random for these different types of inversions in the population, can only be estimated by studying a larger sample size. Inversion heteromorphisms may promote reshuffling of tandem arrays of DNA repeat sequences, thereby giving rise to new heteromorphic domains. Alternatively, the repetitive nature of the sequences lends to the structural variations observed within the inv(9) chromosomes (or any other abnormal chromosome that is the result of recombination between, or breakage within, repetitive DNA).

Citing Articles

Microsatellite density landscapes illustrate short tandem repeats aggregation in the complete reference human genome.

Xia Y, Li D, Chen T, Pan S, Huang H, Zhang W BMC Genomics. 2024; 25(1):960.

PMID: 39402450 PMC: 11477012. DOI: 10.1186/s12864-024-10843-9.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S Am J Hum Genet. 2015; 97(5):691-707.

PMID: 26544804 PMC: 4667131. DOI: 10.1016/j.ajhg.2015.10.003.

Genomic characterization of large heterochromatic gaps in the human genome assembly.

Altemose N, Miga K, Maggioni M, Willard H PLoS Comput Biol. 2014; 10(5):e1003628.

PMID: 24831296 PMC: 4022460. DOI: 10.1371/journal.pcbi.1003628.

Heteromorphic variants of chromosome 9.

Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H Mol Cytogenet. 2013; 6(1):14.

PMID: 23547710 PMC: 3626942. DOI: 10.1186/1755-8166-6-14.

Behavioral and developmental characteristics of children with inversion of chromosome 9 in Korea: a preliminary study.

Kim J, Lee J, Hwang J, Hong K Child Psychiatry Hum Dev. 2005; 35(4):347-57.

PMID: 15886869 DOI: 10.1007/s10578-005-2692-0.

References

Kiyama R, Matsui H, Oishi M . A repetitive DNA family (Sau3A family) in human chromosomes: extrachromosomal DNA and DNA polymorphism. Proc Natl Acad Sci U S A. 1986; 83(13):4665-9. PMC: 323802. DOI: 10.1073/pnas.83.13.4665. View

Macera M, Verma R, Conte R, Bialer M, Klein V . Mechanisms of the origin of a G-positive band within the secondary constriction region of human chromosome 9. Cytogenet Cell Genet. 1995; 69(3-4):235-9. DOI: 10.1159/000133972. View

Babu A, Verma R . Chromosome structure: euchromatin and heterochromatin. Int Rev Cytol. 1987; 108:1-60. DOI: 10.1016/s0074-7696(08)61435-7. View

Kiyama R, Okumura K, Matsui H, BRUNS G, Kanda N, Oishi M . Nature of recombination involved in excision and rearrangement of human repetitive DNA. J Mol Biol. 1987; 198(4):589-98. DOI: 10.1016/0022-2836(87)90202-6. View

Agresti A, Meneveri R, Siccardi A, Marozzi A, Corneo G, Gaudi S . Linkage in human heterochromatin between highly divergent Sau3A repeats and a new family of repeated DNA sequences (HaeIII family). J Mol Biol. 1989; 205(4):625-31. DOI: 10.1016/0022-2836(89)90308-2. View

Waye J, Willard H . Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci U S A. 1989; 86(16):6250-4. PMC: 297815. DOI: 10.1073/pnas.86.16.6250. View

Warburton P, Willard H . Genomic analysis of sequence variation in tandemly repeated DNA. Evidence for localized homogeneous sequence domains within arrays of alpha-satellite DNA. J Mol Biol. 1990; 216(1):3-16. DOI: 10.1016/s0022-2836(05)80056-7. View

Cheung S, Sun L, Featherstone T . Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet Cell Genet. 1990; 54(3-4):97-102. DOI: 10.1159/000132970. View

Rocchi M, Archidiacono N, Ward D, Baldini A . A human chromosome 9-specific alphoid DNA repeat spatially resolvable from satellite 3 DNA by fluorescent in situ hybridization. Genomics. 1991; 9(3):517-23. DOI: 10.1016/0888-7543(91)90419-f. View

10.

Choo K . Role of acrocentric cen-pter satellite DNA in Robertsonian translocation and chromosomal non-disjunction. Mol Biol Med. 1990; 7(5):437-49. View

11.

Wolff D, Schwartz S . Characterization of Robertsonian translocations by using fluorescence in situ hybridization. Am J Hum Genet. 1992; 50(1):174-81. PMC: 1682527. View

12.

Earle E, Shaffer L, Kalitsis P, McQuillan C, Dale S, Choo K . Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations. Am J Hum Genet. 1992; 50(4):717-24. PMC: 1682650. View

13.

Greig G, Willard H . Beta satellite DNA: characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes. Genomics. 1992; 12(3):573-80. DOI: 10.1016/0888-7543(92)90450-7. View

14.

Gravholt C, Friedrich U, Caprani M, Jorgensen A . Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics. 1992; 14(4):924-30. DOI: 10.1016/s0888-7543(05)80113-2. View

15.

Luke S, Verma R, Conte R, Mathews T . Molecular characterization of the secondary constriction region (qh) of human chromosome 9 with pericentric inversion. J Cell Sci. 1992; 103 ( Pt 4):919-23. DOI: 10.1242/jcs.103.4.919. View

16.

Verma R, Luke S, Brennan J, Mathews T, Conte R, Macera M . Molecular topography of the secondary constriction region (qh) of human chromosome 9 with an unusual euchromatic band. Am J Hum Genet. 1993; 52(5):981-6. PMC: 1682060. View

17.

Wolff D, Schwartz S . The effect of Robertsonian translocation on recombination on chromosome 21. Hum Mol Genet. 1993; 2(6):693-9. DOI: 10.1093/hmg/2.6.693. View

18.

Fernandez J, Goyanes V, Pereira S, Lopez-Fernandez C, Gosalvez J . 5-azacytidine produces differential undercondensation of alpha, beta and classical human satellite DNAs. Chromosome Res. 1994; 2(1):29-35. DOI: 10.1007/BF01539451. View

19.

Luke S, Aggarwal G, Stetka D, Verma R . Alphoid DNA diversity of a so-called monocentric Robertsonian fusion. Chromosome Res. 1994; 2(1):73-5. DOI: 10.1007/BF01539457. View

20.

Cook K, Karpen G . A rosy future for heterochromatin. Proc Natl Acad Sci U S A. 1994; 91(12):5219-21. PMC: 43965. DOI: 10.1073/pnas.91.12.5219. View