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Maize HapMap2 identifies extant variation from a genome in flux


Whereas breeders have exploited diversity in maize for yield improvements, there has been limited progress in using beneficial alleles in undomesticated varieties. Characterizing standing variation in this complex genome has been challenging, with only a small fraction of it described to date. Using a population genetics scoring model, we identified 55 million SNPs in 103 lines across pre-domestication and domesticated Zea mays varieties, including a representative from the sister genus Tripsacum. We find that structural variations are pervasive in the Z. mays genome and are enriched at loci associated with important traits. By investigating the drivers of genome size variation, we find that the larger Tripsacum genome can be explained by transposable element abundance rather than an allopolyploid origin. In contrast, intraspecies genome size variation seems to be controlled by chromosomal knob content. There is tremendous overlap in key gene content in maize and Tripsacum, suggesting that adaptations from Tripsacum (for example, perennialism and frost and drought tolerance) can likely be integrated into maize.

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Figure 1: Deriving a high-quality variation map from a fluid genome.
Figure 2: The impact of SNPs and RDVs on phenotype.
Figure 3: Correlation between knobs, transposable elements and genome size in maize.

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Sequence Read Archive

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NCBI Reference Sequence


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This work was supported by the US National Science Foundation (DBI-0820619, 0321467, 0703908, 0638566 and IOS-092270), the USDA-ARS, the USDA–National Institute of Food and Agriculture (NIFA) (2009- 01864), the US DOE (BER DE-FC02-07ER44494 and DE-AC02-03CH11211), The Rockefeller Foundation, the Bill and Melinda Gates Foundation, the Generation Challenge Program, the Chinese 971 program (2007CB813701, 2007CB813701 and 2007CB813703), the National Natural Science Foundation of China (NSFC) to Young Scientists (10723008), Guangdong Innovation Team Funding, the Chinese Ministry of Agriculture 984 program (2010-Z11), the National High Technology Research and Development Program of China (2009AA10AA03-2) and the National Basic Research Program of China (2007CB108900).

Author information

Authors and Affiliations



The manuscript was prepared by J.-M.C., B.G., E.S.B., M.D.M., J.R.-I. and D.W. Data analyses (including read mapping, variant detection, scoring and functional analyses) were performed by J.-M.C., C.S., J.C.G., M.G., M.B.H., T.P., Q.S., M.I.T., X.X., J.R.-I. and E.S.B. Transposon mapping and genome size analyses were performed by J.-M.C., M.G., D.C., M.I.T., J.R.-I. and B.G. Tripsacum analyses were provided by Q.S., D.C., J.C.G. and E.S.B. GWAS analyses were performed by P.J.B., M.L., F.T. and Z.Z. N.d.L., R.N., J.P., R.S.S. and S.M.K. provided early access data. J.D., R.J.E., L.G., J.C.G., K.E.G., J.H., J.L., X.L., Y.L., R.M., B.M.P., T.R., J.W., S.M.K., X.X., M.D.M., G.Z. and Y.X. provided germplasm management, developed DNA libraries and/or performed sequencing experiments. J.H., J.L., J.W., M.D.M., X.X., E.S.B. and D.W. provided experimental design and coordination.

Corresponding authors

Correspondence to Michael D McMullen, Edward S Buckler, Gengyun Zhang, Yunbi Xu or Doreen Ware.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Text and Figures

Supplementary Note, Supplementary Figures 1–11 and Supplementary Tables 1, 2, 4–8, 10, 12–17, 19–25 and 27 (PDF 3583 kb)

Supplementary Table 3

Identity by descent blocks (FILE: SuppTable3.xlsx) (XLSX 90 kb)

Supplementary Table 9

GWAS results for the 5 tested traits. (FILE: SuppTable9.xlsx) (XLSX 396 kb)

Supplementary Table 11

TE family abundance in each inbred line (FILE: SuppTable11.xlsx) (XLSX 1310 kb)

Supplementary Table 18

Differences in TE abundance between Tripsacum and maize (FILE: SuppTable18.xlsx) (XLSX 252 kb)

Supplementary Table 26

Orthologs of the most RDV variant maize genes (FILE: SuppTable26.xlsx) (XLSX 55 kb)

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Chia, JM., Song, C., Bradbury, P. et al. Maize HapMap2 identifies extant variation from a genome in flux. Nat Genet 44, 803–807 (2012).

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