G. Wohr et al., A PALINDROMIC STRUCTURE IN THE PERICENTROMERIC REGION OF VARIOUS HUMAN-CHROMOSOMES, PCR methods and applications, 6(4), 1996, pp. 267-279
The primate-specific multisequence family chAB4 is represented with si
milar to 40 copies within the haploid human genome. Former analyis rev
ealed that unusually long repetition units (>35 kb) are distributed to
at least eight different chromosomal loci. Remarkably varying copy-nu
mbers within the genomes of closely related primate species as well as
the existence of human specific subfamilies, which most probably aros
e by frequent sequence exchanges, demonstrate that chAB4 is an unstabl
e genomic element, at least in an evolutionary sense. To analyze the c
hAB4 basic unit in more detail we established a cosmid contig and foun
d it to be organized as inverted duplications of similar to 90 kb flan
king a noninverted core sequence of similar to 60 kb. FISH as well as
the analysis of chromosome-specific hybrid cell lines revealed a chrom
osomal localization of chAB4 on chromosomes 1, 3, 4, 9, Y, and the per
icentromeric region of all acrocentrics. Furthermore, we can detect ch
AB4 sequences together with a satellites, beta satellites, and satelli
te III sequences within a single chromosome 22-specific YAC clone, ind
icating that chAB4 is located in close proximity to the centromere, at
least on the acrocentrics, Hence, chAB4 represents an unstable genomi
c structure that is located just in the chromosomal region that is ver
y often involved in translocation processes.