The Release 6 reference sequence of the Drosophila melanogaster genome

Roger A. Hoskins, Joseph W. Carlson, Kenneth H. Wan, Soo Park, Ivonne Mendez, Samuel E. Galle, Benjamin W. Booth, Barret D. Pfeiffer, Reed A. George, Robert Svirskas, Martin Krzywinski, Jacqueline Schein, Maria Carmela Accardo, Elisabetta Damia, Giovanni Messina, María Méndez-Lago, Beatriz De Pablos, Olga V. Demakova, Evgeniya N. Andreyeva, Lidiya V. BoldyrevaMarco Marra, A. Bernardo Carvalho, Patrizio Dimitri, Alfredo Villasante, Igor F. Zhimulev, Gerald M. Rubin, Gary H. Karpen, Susan E. Celniker

Research output: Contribution to journalArticlepeer-review

153 Scopus citations

Abstract

Drosophila melanogaster plays an important role in molecular, genetic, and genomic studies of heredity, development, metabolism, behavior, and human disease. The initial reference genome sequence reported more than a decade ago had a profound impact on progress in Drosophila research, and improving the accuracy and completeness of this sequence continues to be important to further progress. We previously described improvement of the 117-Mb sequence in the euchromatic portion of the genome and 21 Mb in the heterochromatic portion, using a whole-genome shotgun assembly, BAC physical mapping, and clone-based finishing. Here, we report an improved reference sequence of the single-copy and middle-repetitive regions of the genome, produced using cytogenetic mapping to mitotic and polytene chromosomes, clone-based finishing and BAC fingerprint verification, ordering of scaffolds by alignment to cDNA sequences, incorporation of other map and sequence data, and validation by whole-genome optical restriction mapping. These data substantially improve the accuracy and completeness of the reference sequence and the order and orientation of sequence scaffolds into chromosome arm assemblies. Representation of the Y chromosome and other heterochromatic regions is particularly improved. The new 143.9-Mb reference sequence, designated Release 6, effectively exhausts clone-based technologies for mapping and sequencing. Highly repeat-rich regions, including large satellite blocks and functional elements such as the ribosomal RNA genes and the centromeres, are largely inaccessible to current sequencing and assembly methods and remain poorly represented. Further significant improvements will require sequencing technologies that do not depend on molecular cloning and that produce very long reads.

Original languageEnglish (US)
Pages (from-to)445-458
Number of pages14
JournalGenome research
Volume25
Issue number3
DOIs
StatePublished - Mar 1 2015
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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