1999
DOI: 10.1086/302380
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Transmission of a Fully Functional Human Neocentromere through Three Generations

Abstract: An unusual Y chromosome with a primary constriction inside the long-arm heterochromatin was found in the amniocytes of a 38-year-old woman. The same Y chromosome was found in her husband and brother-in-law, thus proving that it was already present in the father. FISH with alphoid DNA showed hybridization signals at the usual position of the Y centromere but not at the primary constriction. Centromere proteins (CENP)-A, CENP-C, and CENP-E could not be detected at the site of the canonic centromere but were pres… Show more

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Cited by 111 publications
(82 citation statements)
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“…Three examples of PD-NC have been described for the human Y chromosome (23)(24)(25). However, our PD-NC4 case differs from these PD-NCY cases in a number of significant ways.…”
Section: Discussionmentioning
confidence: 81%
“…Three examples of PD-NC have been described for the human Y chromosome (23)(24)(25). However, our PD-NC4 case differs from these PD-NCY cases in a number of significant ways.…”
Section: Discussionmentioning
confidence: 81%
“…As a consequence, the patient is usually trisomic or tetrasomic for a chromosomal segment and shows an abnormal phenotype, indirectly preventing the transmission of the neocentromere to next generations. Neocentromere appearance not accompanied by the loss of the normal centromere has been reported on chromosome Y (Bukvic et al 1996;Rivera et al 1996;Tyler-Smith et al 1999). In one case, however, the chromosome was unstable (Rivera et al 1996), and in the other two cases, the neocentromere was embedded in the heterochromatic block of Yq.…”
Section: Human Neocentromeresmentioning
confidence: 84%
“…Therefore, the low level of CentO in Cen8 places it at one extreme of a continuum of array sizes in this species. Large CentO arrays fall in the size range of satellite DNA arrays found in other multicellular organisms; for example, the human Y-chromosome alpha satellite array ranges from 400 kb to several megabases in normal men 37 .…”
Section: Discussionmentioning
confidence: 99%