Title of article :
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Author/Authors :
Megan Y. Dennis، نويسنده , , Xander Nuttle، نويسنده , , Peter H. Sudmant، نويسنده , , Francesca Antonacci، نويسنده , , Tina A. Graves، نويسنده , , Mikhail Nefedov، نويسنده , , Jill A. Rosenfeld، نويسنده , , Saba Sajjadian، نويسنده , , Maika Malig، نويسنده , , Holland Kotkiewicz، نويسنده , , Cynthia J. Curry، نويسنده , , Susan Shafer، نويسنده , , Lisa G. Shaffer، نويسنده , , Pieter J. de Jong، نويسنده , , Richard K. Wilson، نويسنده , , Evan E. Eichler، نويسنده ,
Issue Information :
هفته نامه با شماره پیاپی سال 2012
Pages :
11
From page :
912
To page :
922
Abstract :
Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical sequences missing from the reference genome, confirming that the cortical development gene Slit-Robo Rho GTPase-activating protein 2 (SRGAP2) duplicated three times exclusively in humans. We show that the promoter and first nine exons of SRGAP2 duplicated from 1q32.1 (SRGAP2A) to 1q21.1 (SRGAP2B) ∼3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D) ∼2.4 and ∼1 mya, respectively. Sequence and expression analyses show that SRGAP2C is the most likely duplicate to encode a functional protein and is among the most fixed human-specific duplicate genes. Our data suggest a mechanism where incomplete duplication created a novel gene function—antagonizing parental SRGAP2 function—immediately “at birth” 2–3 mya, which is a time corresponding to the transition from Australopithecus to Homo and the beginning of neocortex expansion.
Journal title :
CELL
Serial Year :
2012
Journal title :
CELL
Record number :
1021188
Link To Document :
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