Chromosomal location by in situ hybridization of the human Sau3A family of DNA repeats

Agresti, A; Rainaldi, Guglielmo; Lobbiani, A.; Magnani, Ivana; Lernia, R. Di; Meneveri, Raffaella; Siccardi, A. G.; Ginelli, Enrico

doi:10.1007/bf00284102

Cited by 47 publications

(31 citation statements)

References 30 publications

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“…Cold Spring Harbor Laboratory Press on May 11, 2018 -Published by genome.cshlp.org Downloaded from been identified in the pericentromeric regions of chromosomes 1, 9, and Y, as well as all acrocentric chromosomes (13, 14, 15, 21, and 22) (Agresti et al 1987(Agresti et al , 1989Waye and Willard 1989;Willard 1990;Cooper et al 1992;Greig and Willard 1992). To our knowledge, this is the first report describing the presence of ␤-satellite repeats in 19p12.…”

Section: Genome Researchmentioning

confidence: 72%

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

et al. 1998

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We investigated the organization, architecture, and evolution of the largest cluster (∼4 Mb) of Krüppel-associated box zinc finger (KRAB-ZNF) genes located in cytogenetic band interval 19p12. A highly integrated physical map (∼700 kb) of overlapping cosmid and BAC clones was developed between genetic STS markers D19S454 and D19S269. Using ZNF91 exon-specific probes to interrogate a detailed EcoRI restriction map of the region, ZNF genes were found to be distributed in a head-to-tail fashion throughout the region with an average density of one ZNF duplicon every 150-180 kb of genomic distance. Sequence analysis of 208,967 bp of this region indicated the presence of two putative ZNF genes: one consisting of a novel member of this gene family (ZNF208) expressed ubiquitously in all tissues examined and the other representing a nonprocessed pseudogene (ZNF209), located 450 kb proximal to ZNF208. Large blocks of (∼25-kb) inverted ␤-satellite repeats with a remarkably symmetrical higher order repeat structure were found to bracket the functional ZNF gene. Hybridization analysis using the ␤-satellite repeat as a probe indicates that ␤-satellite interspersion between ZNF gene cassettes is a general property for 1.5 Mb of the ZNF gene cluster in 19p12. Both molecular clock data as well as a retroposon-mapping molecular fossil approach indicate that this ZNF cluster arose early during primate evolution (∼50 million years ago). We propose an evolutionary model in which heteromorphic pericentromeric repeat structures such as the ␤ satellites have been coopted to accommodate rapid expansion of a large gene family over a short period of evolutionary time.[The sequence data described in this paper have been submitted to GenBank under accession nos. AC003973 and AC004004.] Zinc finger (ZNF) genes represent one of the largest gene families in the human genome with an estimated 500-600 members (Hoovers et al. 1992;Becker et al. 1995;Klug and Schwabe 1995). Although the specific function of the majority of ZNF genes remains largely unknown, as a class they are believed to encode transcriptional regulators that in a few instances have been shown to play critical roles in cellular and developmental differentiation processes (Pieler and Bellefroid 1994). ZNF proteins have been implicated in many diverse eukaryotic developmental processes, such as segment pattern formation in the Drosophila embryo (Rosenberg et al. 1986); cellular proliferation in the cerebellar hindbrain of the mouse (Wilkinson et al. 1989); and hematopoietic differentiation among human myeloid precursor cells (Hromas et al. 1991). DNA binding of the encoded proteins is typically mediated by a ZNF motif that consists either of two cysteines and two histidines (Krüppel family or C 2 /H 2 type) or four cysteines alone (steroid receptor or C 2 / C 2 type). The conserved cysteines and/or histidines form a tetrahedral complex around a zinc metal ion, generating a folded loop or ''finger'' of 30 amino acids that is capable of making contact with DNA (Miller et al. 1985)...

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Section: Genome Researchmentioning

confidence: 72%

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

et al. 1998

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“…satDNA that can be localized either on every chromosome, like the human ␣ -satellite (Manuelidis, 1978;Wu and Manuelidis, 1980) and the mouse major (MaSat) and minor (MiSat) satDNAs (Pardue and Gall, 1970;Wong and Rattner, 1988), or on specifi c chromosomes, like the human ␤ -satellite (Agresti et al, 1987;Waye and Willard, 1989;Cooper et al, 1993). Recent studies have tried to further our understanding of the organization and function of the satDNA in the heterochromatic regions of mammalian chromosomes.…”

mentioning

confidence: 99%

High-resolution organization of mouse centromeric and pericentromeric DNA

Kuznetsova

Podgornaya

Ferguson‐Smith

2006

Cytogenet Genome Res

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We studied the organization of mouse satellite 3 and 4 (MS3 and MS4) in comparison with major (MaSat) and minor (MiSat) DNA sequences, located in the centromeric and pericentromeric regions of mouse telocentric chromosomes by fiber-FISH. The centromeric region consists of a small block of MiSat and MS3 followed by a pericentromeric block of MaSat with MS4. Inside the block of the long-range cluster, MaSat repeats intermingle mostly with MS4, while MiSat intermingle with MS3. The distribution of GC-rich satellite DNA fragments is less strict than that of AT-rich fragments; it is possible to find MS3 fragments in the MaSat array and MS4 fragments in the MiSat array. The methylation pattern does not fully correspond to one of the four families of satellite DNA (satDNA). In each satDNA fragment only part of the DNA is methylated. MS3 and MS4 are heavily methylated being GC-rich. Pericentomeric satellite DNA fragments are more methylated than centromeric ones. Among the four families of satDNA MS4 is the most methylated while MiSat is methylated only to a minimal extent. Estimation of the average fragment length and average distance between fragments shows that the range of the probes used does not cover the whole centromeric region. The existence of unknown sequences in the mouse centromere is likely.

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“…In the human genome, beta-satellite repeats have been identified in the pericentromeric regions of chromosomes 1, 9 and Y, as well as all acrocentric chromosomes (13,14,15, 21 and 22) (Agresti et al 1989;Agresti et al 1987;Cooper et al 1992;Greig and Willard 1992;Waye and Willard 1989;Willard 1990). To our knowledge, this is the first report describing the presence of beta-satellite repeats in 19p12.…”

Section: Discussionmentioning

confidence: 99%

Sequence Ready Characterization of the Pericentromeric Region of 19p12

Eichler¹

2006

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Chromosomal location by in situ hybridization of the human Sau3A family of DNA repeats

Cited by 47 publications

References 30 publications

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

High-resolution organization of mouse centromeric and pericentromeric DNA

Sequence Ready Characterization of the Pericentromeric Region of 19p12

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