Dynamics of regulatory evolution in primate β-globin gene clusters: cis- mediated aquisition of simian γ fetal expression patterns

Chiu, Chi Hua; Schneider, Horácio; Slightom, Jerry L.; Gumucio, Deborah L.; Goodman, Morris

doi:10.1016/s0378-1119(97)00476-9

Cited by 23 publications

(16 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…That platyrrhines could have retained an embryonically expressed ␥ 1 gene, however, was suggested (16,17). Here we present further evidence that agrees with this suggestion and allows us to modify the model by having platyrrhines retain, as a plesiomorphic character, embryonic expression of the ␥ gene adjacent to .…”

supporting

confidence: 77%

Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes

Johnson¹,

Prychitko

Gumucio

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

Phylogenetic inferences drawn from comparative data on mammalian ␤-globin gene clusters indicate that the ancestral primate cluster contained a locus control region (LCR) and five paralogously related ␤-type globin loci (5 -LCR--␥--␦-␤-3 ), with and ␥ expressed solely during embryonic life. A ␥ locus tandem duplication (5 -␥ 1 -␥ 2 -3 ) triggered ␥'s evolution toward fetal expression but by a different trajectory in platyrrhines (New World monkeys) than in catarrhines (Old World monkeys and apes, including humans). In platyrrhine (e.g., Cebus) fetuses, ␥ 1 at the ancestral distance from is down-regulated, whereas ␥ 2 at increased distance is up-regulated. Catarrhine ␥ 1 and ␥ 2 acquired longer distances from (14 and 19 kb, respectively), and both are upregulated throughout fetal life with ␥ 1 's expression predominating over ␥ 2 's. On enlarging the platyrrhine expression data, we find Aotus ␥ is embryonic, Alouatta ␥ is inactive at term, and in Callithrix, ␥ 1 is down-regulated fetally, whereas ␥ 2 is up-regulated. Of eight mammalian taxa now represented per taxon by embryonic, fetal, and postnatal ␤-type globin gene expression data, four taxa are primates, and data for three of these primates are from this laboratory. Our results support a model in which a short distance (<10 kb) between and the adjacent ␥ is a plesiomorphic character that allows the LCR to drive embryonic expression of both genes, whereas a longer distance (>10 kb) impedes embryonic activation of the downstream gene.embryonic activation ͉ gene duplication ͉ gene expression ͉ hemoglobin

show abstract

supporting

confidence: 77%

Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes

Johnson¹,

Prychitko

Gumucio

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

“…88 -90 Indeed, it has been found that evolutionary changes in cis-modules that cause expression differences in a focal gene, either temporally or spatially, are responsible for effecting phenotypic evolution. 88,91,92 It is also important to highlight another unit of selection within a given spatial and temporal unit of function. We designate this a protein unit of function, defined as a specific protein An evolutionary change in digital ray pattern formation, and not differential growth, was responsible for the origin of the primate hand.…”

Section: Methods and Theorymentioning

confidence: 99%

“…8). 85,88,92,99,107 This strategy is guided by the phylogenetic framework of primate evolution, which begins with the separation of the strepsirrhines (galago, lemur) from haplorrhines (tarsier, platyrrhines, catarrhines) at approximately 58 mya. These events were followed by the separation of "simian" primates into platyrrhines (for example, the marmoset) and catarrhines (for example, baboons, gibbons, chimpanzees, and humans) around 40 mya.…”

Section: Evolutionary Changes In the Cis-modules Of A Defined Spatialmentioning

confidence: 99%

Evolution and development of the primate limb skeleton

Chiu

Hamrick

2002

Evolutionary Anthropology

View full text Add to dashboard Cite

Recognition that the transformation of one form into another is caused by both internal and external factors is the foundation and driving philosophy underlying all research in the field of biology. 10,11 In practice, however, studies of the internal (proximate) causes of biological transformation within the lifetime of an organism and of the external (ultimate) causes of transformation from one generation to the next (evolutionary transformation) have been pursued independently in two sub-disciplines, developmental and evolutionary biology, respectively. This situation has changed with the emergence of evolutionary developmental biology or "evo-devo," which seeks, by means of a comparative approach, to explain the evolution and development of morphological characters as well as the evolution of their underlying genetic and developmental mechanisms. 12 Essential to this approach is a well-defined and strongly supported phylogeny from which homology and the direction of morphological transformations can be accurately assessed. [13][14][15] Exciting and significant findings have been made in evo-devo. One is that the metazoan body plan is established by a surprisingly small set of highly conserved patterning genes. These homeobox (Hox) genes (Fig. 2), which originated early in metazoan evolution, are distributed throughout the animal kingdom. 16 -18 Another important finding is that homology at the genetic level is not necessarily correlated with homology at the morphological level. For example, the compound eyes of insects and the camera eyes of vertebrates evolved independently, but in both the initiation of eye formation requires expression of the same gene, Pax-6. 19 It also has been demonstrated that morphological novelties such as butterfly eye spots 20 or limbless tetrapods (snakes 21 ) result from alterations in the molecular mechanisms that control the development of major anatomical structures. Moreover, the evolution of developmental systems, which mediate morphological evolution, can occur by slight changes in the regulation of otherwise conserved patterning genes (Fig. 3). [22][23][24] While evo-devo research has focused primarily on broad taxonomic comparisons and major morphological transitions such as that from fish fins to tetrapod limbs, its potential for explaining phenotypic differences between and among closely related taxa is clearly recognized. [25][26][27] In this context, understanding how molecular evolution shapes genetic variation of patterning and growth genes in different primate lineages can be a powerful method for linking genetic and developmental variation to phenotypic (morphological) variation at both the microevolutionary and macroevolutionary scales. 28 -31 Indeed, the focus of evo- The order Primates is composed of many closely related lineages, each having a relatively well established phylogeny supported by both the fossil record and molecular data. 1 Primate evolution is characterized by a series of adaptive radiations beginning early in the Cenozoic era. Studies of th...

show abstract

“…Evolutionary comparisons of regulatory regions have demonstrated dramatic sequence evolution, most often with changes in the distances between cis-regulatory modules and between individual transcription factor binding sites (Kassis et al 1985;van Ooyen et al 1985;Blackman and Meselson 1986;Bray and Hirsh 1986;Kassis et al 1986Kassis et al , 1989Minty and Kedes 1986;Henikoff and Eghtedarzadeh 1987;Wilde and Akam 1987;Philippe et al 1988;Treier et al 1989;Maier et al 1990;Langeland and Carroll 1993;Williams et al 1994;Ludwig and Kreitman 1995;Kreitman and Ludwig 1996;Chiu et al 1997;Hardison et al 1997;Yin et al 1997;Ludwig et al 1998;Takahashi et al 1999). In the few cases yet examined, divergent regulatory modules that contain small blocks of homology, which are in some cases known to act as transcription-factor binding sites, have largely retained their function, directing transcription in conserved spatial and temporal patterns (Bray and Hirsh 1986;Maier et al 1990;Langeland and Carroll 1993;Yin et al 1997;Ludwig et al 1998).…”

Section: The Importance Of Cis-regulatory Logicmentioning

confidence: 99%

Perspective: Evolutionary Developmental Biology and the Problem of Variation

2000

Evolution

410

241

View full text Add to dashboard Cite

Abstract. One of the oldest problems in evolutionary biology remains largely unsolved. Which mutations generate evolutionarily relevant phenotypic variation? What kinds of molecular changes do they entail? What are the phenotypic magnitudes, frequencies of origin, and pleiotropic effects of such mutations? How is the genome constructed to allow the observed abundance of phenotypic diversity? Historically, the neo-Darwinian synthesizers stressed the predominance of micromutations in evolution, whereas others noted the similarities between some dramatic mutations and evolutionary transitions to argue for macromutationism. Arguments on both sides have been biased by misconceptions of the developmental effects of mutations. For example, the traditional view that mutations of important developmental genes always have large pleiotropic effects can now be seen to be a conclusion drawn from observations of a small class of mutations with dramatic effects. It is possible that some mutations, for example, those in cis-regulatory DNA, have few or no pleiotropic effects and may be the predominant source of morphological evolution. In contrast, mutations causing dramatic phenotypic effects, although superficially similar to hypothesized evolutionary transitions, are unlikely to fairly represent the true path of evolution. Recent developmental studies of gene function provide a new way of conceptualizing and studying variation that contrasts with the traditional genetic view that was incorporated into neoDarwinian theory and population genetics. This new approach in developmental biology is as important for microevolutionary studies as the actual results from recent evolutionary developmental studies. In particular, this approach will assist in the task of identifying the specific mutations generating phenotypic variation and elucidating how they alter gene function. These data will provide the current missing link between molecular and phenotypic variation in natural populations.

show abstract

Dynamics of regulatory evolution in primate β-globin gene clusters: cis- mediated aquisition of simian γ fetal expression patterns

Cited by 23 publications

References 33 publications

Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes

Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes

Evolution and development of the primate limb skeleton

Perspective: Evolutionary Developmental Biology and the Problem of Variation

Contact Info

Product

Resources

About