Chromosome-level genome assembly of tree sparrow reveals a burst of new
genes driven by segmental duplications
Abstract
The creation of new genes is a major force of evolution. Despite as an
important mechanism that generated new genes, segmental duplication (SD)
has yet to be accurately identified and fully characterized in birds
because the repetitive complexity leads to misassignment and misassembly
of sequence. In addition, SD may lead to new gene copies, which makes it
possible to test the “out of testis” hypothesis which suggests genes
are frequently born with testis-specific expression. Using a
high-quality chromosome-level assembly, we performed a systematic
analysis and presented a comprehensive landscape of SDs in tree sparrow
(Passer montanus). We detected co-localization of newly expanded
genes and long terminal repeat retrotransposons (LTR-RTs), both of which
are derived from SDs and enriched in microchromosomes. The newly
expanded genes are mostly found in eight families including
C2H2ZNF, OR, PIM, PAK, MROH,
HYDIN, HSF and ITPRIPL. The large majority of new
members of these eight families have evolved to pseudogenes, whereas
there still some new copies preserved transcriptional activity. Among
the transcriptionally active new members, new genes from different
families with diverse structures and functions shared a similar
testis-biased expression pattern, which is consistent with the “out of
testis” hypothesis. Through a case analysis of the high-quality genome
assembly of tree sparrow, we reveal that the SDs contribute to the
formation of new genes. Our study provides a comprehensive understanding
of the emergence, expression and fate of duplicated genes and how the
SDs might participate in these processes and shape genome evolution.