Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes

Association between Y chromosome haplotype variation and alcohol dependence and related personality traits was investigated in a large sample of psychiatrically diagnosed Finnish males. Haplotypes were constructed for 359 individuals using alleles at eight loci (seven microsatellite loci and a nucleotide substitution in the DYZ3 alphoid satellite locus). A cladogram linking the 102 observed haplotype configurations was constructed by using parsimony with a single-step mutation model. Then, a series of contingency tables nested according to the cladogram hierarchy were used to test for association between Y haplotype and alcohol dependence. Finally, using only alcohol-dependent subjects, we tested for association between Y haplotype and personality variables postulated to define subtypes of alcoholismantisocial personality disorder, novelty seeking, harm avoidance, and reward dependence. Significant association with alcohol dependence was observed at three Y haplotype clades, with significance levels of P ‫؍‬ 0.002, P ‫؍‬ 0.020, and P ‫؍‬ 0.010. Within alcohol-dependent subjects, no relationship was revealed between Y haplotype and antisocial personality disorder, novelty seeking, harm avoidance, or reward dependence. These results demonstrate, by using a fully objective association design, that differences among Y chromosomes contribute to variation in vulnerability to alcohol dependence. However, they do not demonstrate an association between Y haplotype and the personality variables thought to underlie the subtypes of alcoholism.

Section: Methodsmentioning

confidence: 99%

Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits

Kittles

Long

Bergen

et al. 1999

“…The ␣-satellite DNA, the major DNA component in the centromeric region of human chromosomes, has long been regarded as junk DNA. However, the current evidence indicates that the ␣-satellite DNA plays an important role in centromere function (3)(4)(5).…”

mentioning

confidence: 99%

A conserved repetitive DNA element located in the centromeres of cereal chromosomes

Jiang

Nasuda

Dong

et al. 1996

185

132

Repetitive DNA sequences have been demonstrated to play an important role for centromere function of eukaryotic chromosomes, including those from fission yeast, Drosophila melanogaster, and humans. Here we report on the isolation of a repetitive DNA element located in the centromeric regions of cereal chromosomes. A 745-bp repetitive DNA clone, pSau3A9, was isolated from sorghum (Sorghum bicolor). This DNA element is located in the centromeric regions of all sorghum chromosomes, as demonstrated by f luorescence in situ hybridization. Repetitive DNA sequences homologous to pSau3A9 also are present in the centromeric regions of chromosomes from other cereal species, including rice, maize, wheat, barley, rye, and oats. Probe pSau3A9 also hybridized to the centromeric region of B chromosomes from rye and maize. The repetitive nature and its conservation in distantly related plant species indicate that the pSau3A9 family may be associated with centromere function of cereal chromosomes. The absence of DNA sequences homologous to pSau3A9 in dicot species suggests a faster divergence of centromererelated sequences compared with the telomere-related sequences in plants.Among the most distinguishing and characteristic landmarks of chromosomes of higher eukaryotes is the location of the centromere. The centromere plays an essential role in the proper segregation of chromosomes during mitosis and meiosis, thus ensuring equal distribution of genetic information to the next generation. The centromeric region of higher eukaryotic chromosomes is structurally specified by the primary constriction at which the sister chromatids associate and a pair of kinetochores to which microtubules of the mitotic and meiotic spindle attach.The centromeres from budding yeast (Saccharomyces cerevisiae), known as point centromeres, have been well characterized. The genetic information specifying full centromere function in these species is contained within a 125-bp DNA segment (1). Such centromeres bind to a single microtubule and can move chromosomes of 0.26-3 megabases in size. Extensive studies also have been carried on centromeres from fission yeast (Schizosaccharomyces pombe), Drosophila melanogaster, and mammalian species. The centromeres from these species are much more complex compared with those from budding yeast. These centromeres, called regional centromeres, encompass kilobases or megabases of DNA and include both unique and repetitive DNA sequences. Several different repetitive DNA elements were identified in the centromeres of fission yeast. It is well established that these repetitive elements are essential for full centromere function (1). Full function of centromeres in Drosophila also requires the presence of satellite DNA (2). The ␣-satellite DNA, the major DNA component in the centromeric region of human chromosomes, has long been regarded as junk DNA. However, the current evidence indicates that the ␣-satellite DNA plays an important role in centromere function (3-5).Thus far, no plant DNA sequences essential for ce...

“…The molecular organization of centromeres has been studied extensively in yeast, Drosophila melanogaster, and humans. Whereas the centromeres of budding yeast (Saccharomyces cerevisiae) chromosomes are structurally simple, specified by only a 125-bp, single-copy DNA sequence (1-2), the centromeres from higher eukaryotic species, such as D. melanogaster and humans, encompass several hundred kilobases (kb) or even megabases of DNA and contain repetitive DNA sequences (3)(4)(5)(6)(7).…”

mentioning

confidence: 99%

Rice ( Oryza sativa ) centromeric regions consist of complex DNA

Dong

Miller

Jackson

et al. 1998

203

160

Rice bacterial artificial chromosome clones containing centromeric DNA were isolated by using a DNA sequence (pSau3A9) that is present in the centromeres of Gramineae species. Seven distinct repetitive DNA elements were isolated from a 75-kilobase rice bacterial artificial chromosome clone. All seven DNA elements are present in every rice centromere as demonstrated by f luorescence in situ hybridization. Six of the elements are middle repetitive, and their copy numbers range from Ϸ50 to Ϸ300 in the rice genome. Five of these six middle repetitive DNA elements are present in all of the Gramineae species, and the other element is detected only in species within the Bambusoideae subfamily of Gramineae. All six middle repetitive DNA elements are dispersed in the centromeric regions. The seventh element, the RCS2 family, is a tandem repeat of a 168-bp sequence that is represented Ϸ6,000 times in the rice genome and is detected only in Oryza species. Fiber-f luorescence in situ hybridization analysis revealed that the RCS2 family is organized into long uninterrupted arrays and resembles previously reported tandem repeats located in the centromeres of human and Arabidopsis thaliana chromosomes. We characterized a large DNA fragment derived from a plant centromere and demonstrated that rice centromeres consist of complex DNA, including both highly and middle repetitive DNA sequences.Centromeres are one of the most characteristic landmarks of eukaryotic chromosomes. The centromeric region is the site for mitotic and meiotic spindle fiber attachment and is responsible for sister chromatid association. Thus centromeres play a central role in the process of chromosomal segregation and transmission in cell divisions. The molecular organization of centromeres has been studied extensively in yeast, Drosophila melanogaster, and humans. Whereas the centromeres of budding yeast (Saccharomyces cerevisiae) chromosomes are structurally simple, specified by only a 125-bp, single-copy DNA sequence (1-2), the centromeres from higher eukaryotic species, such as D. melanogaster and humans, encompass several hundred kilobases (kb) or even megabases of DNA and contain repetitive DNA sequences (3-7).Thus far, only limited information is available for the organization of plant centromeres. Peacock et al. (8) first isolated a repetitive DNA element from the maize knobs that can act as neocentromeres in certain genetic backgrounds. A repetitive DNA element also was cloned from the centromeres of the supernumerary B chromosomes of maize (9-10). Part of this B-specific DNA element shows strong homology to the maize knob sequences. A 180-bp tandem repeat (pAL1 family) is the major component of the centromeric regions of Arabidopsis thaliana chromosomes. The genomic organization of this repeat family shares similarities to the alpha satellite DNA at the human centromeres (11)(12)(13)(14). Recently, two repetitive DNA elements, pSau3A9 and CCS1, were isolated from sorghum (Sorghum bicolor) (15) and Brachypodium sylvaticum (16), respectivel...