Stallings R L, Doggett N A, Okumura K, Ward D C
Center for Human Genome Studies and Life Sciences Division, Los Alamos National Laboratory, New Mexico 87545.
Genomics. 1992 Jun;13(2):332-8. doi: 10.1016/0888-7543(92)90249-r.
Human chromosome 16-specific low-abundance repetitive (CH16LAR) DNA sequences have been identified during the course of constructing a physical map of this chromosome. At least three CH16LAR sequences exist and they are interspersed, in small clusters, over four regions that constitute more than 5% of the chromosome. CH16LAR sequences were observed in one unusually large cosmid contig (number 55), where the ordering of clones was difficult because these sequences led to false overlaps between noncontiguous clones. Contig 55 contains 78 clones, or approximately 2% of all the clones contained within the present cosmid contig physical map. Fluorescent in situ hybridization of multiple clones, including cosmid and YAC contig 55 clones, mapped the four CH16LAR-rich regions to bands p13, p12, p11, and q22. These regions are of biological interest since the pericentric inversion and the interhomologue translocation breakpoints commonly found in acute nonlymphocytic leukemia (ANLL) subtype M4 fall within these bands. Sequence analysis of a 2.2-kb HindIII fragment from a cosmid containing a CH16LAR sequence indicated that one of the CH16LAR elements is similar to a minisatellite sequence in that the core repeat is only 40 bp in length. Additional characterization of other repetitive elements is in progress.
在构建人类16号染色体物理图谱的过程中,已鉴定出该染色体特有的低丰度重复(CH16LAR)DNA序列。至少存在三种CH16LAR序列,它们以小簇的形式散布在构成该染色体5%以上的四个区域中。在一个异常大的黏粒重叠群(编号55)中观察到CH16LAR序列,由于这些序列导致不相邻克隆之间出现错误重叠,因此该重叠群中克隆的排序很困难。重叠群55包含78个克隆,约占目前黏粒重叠群物理图谱中所有克隆的2%。对多个克隆(包括黏粒和YAC重叠群55克隆)进行荧光原位杂交,将四个富含CH16LAR的区域定位到p13、p12、p11和q22带。这些区域具有生物学意义,因为急性非淋巴细胞白血病(ANLL)M4亚型中常见的着丝粒周围倒位和同源染色体间易位断点都位于这些带内。对一个含有CH16LAR序列的黏粒中的一个2.2kb HindIII片段进行序列分析表明,其中一个CH16LAR元件类似于一个小卫星序列,其核心重复序列长度仅为40bp。对其他重复元件的进一步表征正在进行中。