A neocentromere in the DAZ region of the human Y chromosome

被引：19

作者：

Floridia, G

Gimelli, G

Zuffardi, O

Earnshaw, WC

Warburton, PE

Tyler-Smith, C

机构：

[1] Univ Oxford, Dept Biochem, CRC, Chromosome Mol Biol Grp, Oxford OX1 3QU, England

[2] Ist Giannina Gaslini, Lab Citogenet, I-16148 Genoa, Italy

[3] Univ Edinburgh, Inst Cell & Mol Biol, Edinburgh EH9 3JR, Midlothian, Scotland

来源：

CHROMOSOMA | 2000年 / 109卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1007/s004120000081

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe a novel rearranged human Y chromosome consisting of an inverted duplication of the long arm heterochromatin and a small amount of euchromatin: rea(Y)(qter-q11.2::q11.2-qter). The normal centromere has been deleted and a neocentromere containing CENP-A, -C, -E and Mad2 but not CENP-B has formed close to the breakpoint. A 2.7 Mb yeast artificial chromosome contig spanning the breakpoint was constructed and the breakpoint was localised to a region of <120 kb close to the DAZ gene cluster. Combined immunofluorescence and fluorescence in situ hybridisation showed that the centromeric protein-binding domain of the neocentromere was located near the breakpoint and within the DAZ cluster.

引用

页码：318 / 327

页数：10