Scripps Research Institute Scientists Show How a Gene Duplication Helped our Brains Become ‘Human’

Nitrous acid converts amine groups on A and C to diazo groups, altering their hydrogen bonding patterns, which leads to incorrect base pairing during replication. Radiation Ultraviolet light UV non-ionizing radiation. Two nucleotide bases in DNA— cytosine and thymine—are most vulnerable to radiation that can change their properties. UV light can induce adjacent pyrimidine bases in a DNA strand to become covalently joined as a pyrimidine dimer. Exposure to ionizing radiation, such as gamma radiation , can result in mutation, possibly resulting in cancer or death. Classification of types[ edit ] By effect on structure[ edit ] Five types of chromosomal mutations. Selection of disease-causing mutations, in a standard table of the genetic code of amino acids.

Dating Doppel (PRND)

The Origin of Vertebrate Genes Introduction to gene families Contemporary vertebrates genomes contain about 20, coding genes, not many more than pre-Bilatera and far fewer than was believed prior to the genomic era. These genes fall into perhaps gene families each with its own history of expansion and contraction, so sizes today vary from singletons and doubletons to families such as GPCR with over a thousand members. We wish to track each of these gene histories back to the last ancestral genome in which a parental gene was present without further homologs.

Given the prevalence of gene duplications in actinopterygian fishes (Wittbrodt, Meyer, and Schartl ; Robinson-Rechavi et al. ; Taylor et al. ), this raises the question of whether something specific really happened at the origin of vertebrates or whether gene duplications have been a common phenomenon throughout chordate evolutionary history, with the exception of sarcopterygians.

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Simultaneous Identification of Duplications, Losses, and Lateral Gene Transfers

The parent gene, known as SAGAP2 , only one of the 23 duplicated genes found in humans but not in other primates, is critical for neural development. Only in the last five years have scientists developed methods to reliably map these hominid-specific duplications. By extending the duration of spine development, investigators envisioned an evolutionary net change for the formation of longer human-like necks.

In essence, the duplicated gene was hoped to act as a new gene.

Gene duplication followedby differentiationof se-quence and function through mutation is posited to be a primary mechanism for acquisition of new genetic function in the evolution of increasing or-ganismal complexity [21], though the exact role of duplications in genomic evolution is widely de-bated in the biology literature.

Gene duplication is central to genome evolution. In plants, genes can be duplicated through small-scale events and large-scale duplications often involving polyploidy. The apple belongs to the subtribe Pyrinae Rosaceae , a diverse lineage that originated via allopolyploidization. Both small-scale duplications and polyploidy may have been important mechanisms shaping the genome of this species.

This study evaluates the gene duplication and polyploidy history of the apple by characterizing duplicated genes in this species using EST data. Analysis of the age distribution of gene duplications supported a continuous mode of small-scale duplications, plus two episodes of large-scale duplicates of vastly different ages.

The youngest was consistent with the polyploid origin of the Pyrinae MYBP, whereas the older may be related to gamma-triplication; an ancient hexapolyploidization previously characterized in the four sequenced eurosid genomes and basal to the eurosid-asterid divergence. Duplicated genes were studied for functional diversification with an emphasis on young paralogs; those originated during or after the formation of the Pyrinae lineage.

Unequal assignment of single-copy genes and gene families to Gene Ontology categories suggested functional bias in the pattern of gene retention of paralogs. Young paralogs related to signal transduction, metabolism, and energy pathways have been preferentially retained. Non-random retention of duplicated genes seems to have mediated the expansion of gene families, some of which may have substantially increased their members after the origin of the Pyrinae.

The joint analysis of over-duplicated functional categories and phylogenies, allowed evaluation of the role of both polyploidy and small-scale duplications during this process.

Vertebrate Gene Origins

Reconstitution of contractile FtsZ rings in liposomes. Science , Template-directed synthesis of a genetic polymer in a model protocell. Nature ,

The Pennsylvania State University The Graduate School Intercollege Graduate Degree Program in Plant Biology PHYLOGENOMIC ANALYSIS OF ANCIENT GENOME DUPLICATIONS IN THE.

Researchers so far have catalogued only a few, but now it seems that they can add a big one to the list. Instead, it interferes with that original function, effectively giving neurons more time to wire themselves into a bigger brain. Eichler at the University of Washington, Seattle. Polleux specializes in the study of human brain development, and, several years ago, his lab began researching the function of the newly discovered SRGAP2. It deforms the membranes of young neurons outward, forcing the growth of root-like appendages called filopodia.

As young neurons sprout these filopodia, they migrate more slowly through the expanding brain; eventually they reach their final position where they form connections. Most excitatory connections made on pyramidal neurons in the cortex are formed on spines, which are microscopic protrusions from the dendrite playing a critical role in integrating synaptic signals from other neurons.

After developing sensitive probes to distinguish these genes and their protein products from those of the original SRGAP2A, the researchers looked for their expression in human cell and brain-tissue cultures. The affected neurons—pyramidal neurons, the major neurons of the cortex—migrated faster and took much longer to sprout their full complement of dendritic spines.

Genetics, an Evolution Nightmare

Download powerpoint Figure 5. Comparison of F-box orthologs in Vitis-Carica-Populus within the Arabidopsis-Oryza-Populus context note that groups with three or more Populus genes were excluded. The values in parentheses are numbers of Populus F-box genes.

gene duplication events obtained from molecular dating of almost phylogenetic gene trees. We reanalyzed patterns of ancient gene duplications and found these duplications to fall mainly into two sets. Gene duplications in the first set occurred in.

Evolutionary maintenance of gene duplications Understanding genetic redundancy—the maintenance of multiple copies of a gene after duplication—and its relevance to genetic evolution have long been debated. Lan and Pritchard examined gene duplicates within human and other mammalian genomes. The expression of genes appears to be controlled by dosage balance and tight coregulation of tandem duplicates. They found little evidence for gene copies evincing significantly different expression patterns.

However, such changes can evolve later, after gene copies become physically separated within the genome and thus are no longer jointly regulated. Science, this issue p. However, most young duplicates are degraded by loss-of-function mutations, and the factors that allow some duplicate pairs to survive long-term remain controversial.

After the Duplication: Gene Loss and Adaptation in Saccharomyces Genomes

To learn more about the evolutionary effects of the duplication event, we compared the S. We demonstrate that the whole genome duplication occurred before S. In addition to more accurately dating the duplication event, this finding allowed us to study the effects of the duplication on two separate lineages. On the other hand, S.

NOTUNG: a program for dating gene duplications and optimizing gene family trees. Journal of Computational Biology 7 (): – Colombo L, Valle LD, Fiore C, .

Advanced Search Abstract Vertebrates originated in the lower Cambrian. Their diversification and morphological innovations have been attributed to large-scale gene or genome duplications at the origin of the group. Under such models, most genes that are duplicated in all vertebrates should have originated during the same period. Previous work has shown that indeed duplications started after the speciation between vertebrates and the closest invertebrate, amphioxus, but have not set a clear ending.

Consideration of chordate phylogeny immediately shows the key position of cartilaginous vertebrates Chondrichthyes to answer this question. Although the time interval is relatively short, it is crucial to understanding the events at the origin of vertebrates. Our results support rounds of gene or genome duplications during a limited period of early vertebrate evolution and allow a better characterization of these events.

An interesting prediction of this hypothesis is that most genes that are duplicated in all vertebrates should have originated during the same period for a discussion of predictions of the model, see Durand [ ]. Gene phylogenies consistent with this model are predicted to contain most duplications during a given speciation interval. The comparison of gene complexes, such as hox Holland et al. The choice of complexes of linked genes limits the insight these studies bring into the evolution of the whole genome, because each group of linked genes only samples one locus.

Studies of the distribution and age of duplicated genes in the whole human genome sequence have established that gene duplications were indeed a massive phenomenon at the origin of vertebrates Gu, Wang, and Gu ; McLysaght, Hokamp, and Wolfe

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