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Evolution of the human ASPM gene, a major determinant of brain size.

ABSTRACT: The size of human brain tripled over a period of approximately 2 million years (MY) that ended 0.2-0.4 MY ago. This evolutionary expansion is believed to be important to the emergence of human language and other high-order cognitive functions, yet its genetic basis remains unknown. An evolutionary analysis of genes controlling brain development may shed light on it. ASPM (abnormal spindle-like microcephaly associated) is one of such genes, as nonsense mutations lead to primary microcephaly, a human disease characterized by a 70% reduction in brain size. Here I provide evidence suggesting that human ASPM went through an episode of accelerated sequence evolution by positive Darwinian selection after the split of humans and chimpanzees but before the separation of modern non-Africans from Africans. Because positive selection acts on a gene only when the gene function is altered and the organismal fitness is increased, my results suggest that adaptive functional modifications occurred in human ASPM and that it may be a major genetic component underlying the evolution of the human brain.

SUBMITTER: Zhang J

PROVIDER: S-EPMC1462882 | biostudies-other | 2003 Dec

REPOSITORIES: biostudies-other

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Evolution of the human ASPM gene, a major determinant of brain size.

Zhang Jianzhi J

Genetics 20031201 4

The size of human brain tripled over a period of approximately 2 million years (MY) that ended 0.2-0.4 MY ago. This evolutionary expansion is believed to be important to the emergence of human language and other high-order cognitive functions, yet its genetic basis remains unknown. An evolutionary analysis of genes controlling brain development may shed light on it. ASPM (abnormal spindle-like microcephaly associated) is one of such genes, as nonsense mutations lead to primary microcephaly, a hu ...[more]

PMID: 14704186

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Project description:Sponges play an important ecological function in many benthic habitats. They filter large volumes of water, retain suspended particles with high efficiency, and process dissolved compounds. Nevertheless, the factors that regulate sponge pumping rate and its relation to environmental factors have been rarely studied. We examined, in situ, the variation of pumping rates for five Mediterranean sponge species and its relationship to temperature, particulate food abundance and sponge size over two annual cycles. Surprisingly, temperature and food concentration had only a small effect on pumping rates, and the seasonal variation of pumping rates was small (1.9-2.5 folds). Sponge size was the main determinant of the specific pumping rate (pumping normalized to sponge volume or mass). Within the natural size distribution of each species, the volume-specific pumping rate [PR V , ml min-1 (cm sponge)-3] decreased (up to 33 folds) with the increase in sponge volume (V, cm3), conforming to an allometric power function (PR V = aVb ) with negative exponents. The strong dependence of the size-specific pumping rate on the sponge size suggests that the simplistic use of this value to categorize sponge species and predict their activity may be misleading. For example, for small specimens, size-specific pumping rates of the two low-microbial-abundance (LMA) species (allometric exponent b of -0.2 and -0.3) were similar to those of two of the high-microbial-abundance (HMA) species (b of -0.5 and -0.7). However, for larger specimens, size-specific pumping rates were markedly different. Our results suggest that the pumping rate of the sponges we studied can be approximated using the measured allometric constants alone in conjunction with surveys of sponge abundance and size distribution. This information is essential for the quantification of in situ feeding and respiration rates and for estimates of the magnitude of sponge-mediated energy and nutrient fluxes at the community level. Further work is required to establish if and to what extent the low seasonal effect and the strong size dependency of pumping rate can be generalized to other sponges and habitats.

Dataset Information

Evolution of the human ASPM gene, a major determinant of brain size.

Publications

Evolution of the human ASPM gene, a major determinant of brain size.

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