Evidence That the Human Y Chromosome Does Not Contain Clustered DNA Sequences (Bkm) Associated with Heterogametic Sex Determination in Other Vertebrates

Kiel-Metzger, Karen; Warren, Gwynedd; Wilson, Golder N.; Erickson, Robert P.

doi:10.1056/nejm198507253130406

Cited by 46 publications

(10 citation statements)

References 18 publications

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“…A clustered organization of the (GACT), quartet family in the human gehome is suggested by DNA blot experiments with related oligonucleotide probes (Cavener et al 1988). A clustered organization of the (GATA)n quartet family in the human genome has been revealed by in situ hybridization to the long arm of chromosome 6, chromosome 11, and the short arm of the X chromosome (Kiel-Metzger et al 1985) and by DNA blot experiments on the short arm of the Y chromosome (Arnemann et al 1986). Numerous polymorphic genomic DNA fragments can be demonstrated with pure (GATA)n oligonucleotide probes and AluI-and MboI-digested human DNA (Ali et al 1986).…”

Section: The Simple Sequence Families With a Tetranucleotide Sequencementioning

confidence: 99%

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

Vogt¹

1990

Hum Genet

182

122

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This review is based on a thorough description of the structure and sequence organization of tandemly organized repetitive DNA sequence families in the human genome; it is aimed at revealing the locus-specific sequence organization of tandemly repetitive sequence structures as a highly conserved DNA sequence code. These repetitive so-called "super-structures" or "higher-order" structures are able to attract specific nuclear proteins. I shall define this code therefore as a "chromatin folding code". Since locus-specific superstructures of tandemly repetitive sequence units are present not only in the chromosome centromere or telomere region but also on the arms of the chromosomes, I assume that their chromatin folding code may contribute to, or even organize, the folding pathway of the chromatin chain in the nucleus. The "chromatin folding code" is based on its specific "chromatin code", which describes the sequence dependence of the helical pathway of the DNA primary sequence (i.e., secondary structure) entrapping the histone octamers in preferential positions. There is no periodicity in the distribution of the nucleosomes along the DNA chain. The folding pathway of the nucleosomal chromatin chain is however still flexible and determined by e.g., the length of the DNA chain between the nucleosomes. The fixation and stabilization of the chromatin chain in the space of the nucleus (i.e., its "functional state") may be mediated by additionally unique DNA protein interactions that are dictated by the "chromatin folding code". The unique DNA-protein interactions around the centromeres of human chromosomes are revealed for example by their "C-banding". I wish to stress that it is not my aim to relate each block of repetitive DNA sequences to a specific "chromatin folding code", but I shall demonstrate that there is an inherent potential for tandem repeated sequence units to develop a locus-specific repetitive higher order structure; this potential may create a specific chromatin folding code whenever a selection force exists at the position of this repetitive DNA structure in the genome.

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Section: The Simple Sequence Families With a Tetranucleotide Sequencementioning

confidence: 99%

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

Vogt¹

1990

Hum Genet

182

122

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“…Another model proposes that the TDF gene will be found among the 'Bkm" DNA sequences, monotonous GATA and GACA repeats present in many copies on the sex chromosomes of some vertebrates (Epplen et al, 1983;Singh et al, 1984). However, the relative scarcity of Bkm sequences on the human Y chromosome casts doubt on this hypothesis (Kiel-Metzger et al, 1985).…”

Section: Introductionmentioning

confidence: 99%

The sex-determining region of the human Y chromosome encodes a finger protein

Page

Mosher

Simpson

et al. 1987

Cell

822

365

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“…In addition, the D-and G-group chromosomes were significantly labeled. However, with use of the same probe, Bkm sequences were found on the autosomes 6 and 11 and on the X chromosome (Kiel-Metzger et al 1985;Erickson et al 1988). On the other hand with a synthetic probe, the Bkm-positive human Y cosmids were detected to have relatively short runs of G A T A repeats (Arnemann et al 1986).…”

Section: Discussionmentioning

confidence: 93%

Heterogeneities in the distribution of (GACA)n simple repeats in the karyotypes of primates and mouse

et al. 1990

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Tandemly organized simple repetitive sequences are widespread in all eukaryotes. The organization of the simple tetrameric (GACA)n sequences at chromosomal loci has been investigated using in situ hybridization with chemically pure oligonucleotide probes. Both biotin- and digoxigenin-attached (GACA)4 probes reveal specific hybridization signals over the short arms of all acrocentric autosomes in man. In the other examined primates the NOR-bearing autosomes could be detected by in situ hybridization with (GACA)4, and a major concentration of the GACA simple repeats could be observed on the Y chromosome in the gibbon and mouse: the hybridization site in the gibbon Y chromosome coincides particularly with the silver-stainable NOR. In the past, accumulations of (GACA)n sequences were demonstrated mainly on vertebrate sex chromosomes. Therefore, the organization of GACA simple sequences is discussed in the context of their evolutionary potential accumulation and the possible linkage with the primate rDNA loci.

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Evidence That the Human Y Chromosome Does Not Contain Clustered DNA Sequences (Bkm) Associated with Heterogametic Sex Determination in Other Vertebrates

Cited by 46 publications

References 18 publications

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved ?chromatin folding code?

The sex-determining region of the human Y chromosome encodes a finger protein

Heterogeneities in the distribution of (GACA)n simple repeats in the karyotypes of primates and mouse

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