Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

ABSTRACT:

Background

Although the reference human genome sequence was declared finished in 2003, some regions of the genome remain incomplete due to their complex architecture. One such region, 1q21.1-q21.2, is of increasing interest due to its relevance to human disease and evolution. Elucidation of the exact variants behind these associations has been hampered by the repetitive nature of the region and its incomplete assembly. This region also contains 238 of the 270 human DUF1220 protein domains, which are implicated in human brain evolution and neurodevelopment. Additionally, examinations of this protein domain have been challenging due to the incomplete 1q21 build. To address these problems, a single-haplotype hydatidiform mole BAC library (CHORI-17) was used to produce the first comple

SUBMITTER: O'Bleness M 

PROVIDER: S-EPMC4053653 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature