Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.

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Phylogenetic relationships based on 801 base pairs (bp) of the mitochondrial cytochrome b gene are examined for eight genera and 28 species of the akodontine tribe of South American murid rodents. The akodontine tribe comprises some 35% of the total diversity of the subfamily Sigmodontinae, but the current taxonomy at virtually all levels is uncertain because of inadequate generic diagnoses and assessments of variation and trends in traditional morphological characters. Monophyly of the tribe cannot be resolved by the sequence data, based on comparisons to outgroup taxa in three other tribes (Oryzomyini, Phyllotini, and Thomasomyini). However, highly corroborated monophyletic units within the group are obtained in a variety of both parsimony and distance analyses. These include a redefined and numerically dominant genus Akodon (with Microxus and Hypsimys as synonyms), Bolomys, Lenoxus, Oxymycterus, and a strongly supported assemblage that includes the central Andean Chroeomys and ‘Akodon’ andinus and the southern Abrothrix, ‘Akodon’ olivaceus, and the long‐clawed mice of the genera Notiomys, Geoxus, and Chelemys. Sequence divergence within species is typically less than 5%, although levels can reach 10% for some highly polytypic forms. Divergence among genera within the tribe reaches 35% in corrected estimates, a level that is as great as that among representatives of different tribes. Changes in the current classification of akodontines are suggested based on these data, and the timing and place of origin of the tribe and its radiation is discussed.

Parapatric speciation across sharp ecological gradients is an alternative to the more usual allopatric model as both a general explanation of organismal diversification and as an explicit statement regarding differentiation of tropical forest biotas (Endler, 1977, 1982a, 1982b). The relevance of this model to species of small mammals distributed across a 3,000 meter gradient on the eastern flank of the Peruvian Andes is examined here by phylogenetic analysis of comparative mitochondrial DNA sequences, relying on both freshly collected samples and extracts taken from skins preserved in museum collections. These analyses falsify the applicability of the gradient model in this case. Moreover, the phylogenetic approach employed here provides an explicit test of the feasibility of the gradient model for any other taxon, either plant or animal, of the lowland Amazonian forest.

Parapatric speciation across sharp ecological gradients is an alternative to the more usual allopatric model as both a general explanation of organismal diversification and as an explicit statement regarding differentiation of tropical forest biotas (Endler, 1977, 1982a, 1982b). The relevance of this model to species of small mammals distributed across a 3,000 meter gradient on the eastern flank of the Peruvian Andes is examined here by phylogenetic analysis of comparative mitochondrial DNA sequences, relying on both freshly collected samples and extracts taken from skins preserved in museum collections. These analyses falsify the applicability of the gradient model in this case. Moreover, the phylogenetic approach employed here provides an explicit test of the feasibility of the gradient model for any other taxon, either plant or animal, of the lowland Amazonian forest.

Samples of the forest-dwelling mouse Abrothrix olivaceus and the steppe-dwelling A. xanthorhinus across a transect between 45 and 47 degrees S in southern Chile were analysed using the mitochondrial cytochrome b (cyt b) sequence, substantially adding to the data presented previously for these taxa from Argentina and Chile. The level of variation in the cyt b sequence throughout the entire olivaceus/xanthorhinus complex is comparable to that seen within a single species in many South American sigmodontine rodents, consistent with a previous conclusion that both taxa are sub-species of A. olivaceus. Haplotypes of xanthorhinus have not yet achieved reciprocal monophyly relative to those of olivaceus. We evaluate competing hypotheses for the morphological divergence of xanthorhinus and olivaceus by allopatry in Pleistocene refuges versus postglacial diversification across ecological gradients. Two contrasting patterns are predicted for plots of the distribution of pairwise genetic differences, depending on whether the taxa diverged in allopatric refuges or through selection across a gradient. Examples of both modes of diversification are found in this complex.

Mitochondrial DNA (mtDNA) variation in the cytochrome b gene was determined for two divergent taxa of pocket gophers, Thomomys bottae actuosus and T. b. ruidosae. These two taxa hybridize in a narrow contact zone, but introgression of nuclear markers such as allozymes or chromosomes does not extend much beyond the hybrid zone (Patton et al. 1979). We found that despite their distinctness, the two subspecies shared very similar mtDNA haplotypes. By a comparison of phylogenetic histories derived from nuclear markers (allozymes) and from mtDNA haplotypes sampled in different populations of T. bottae from New Mexico, we show that apparent similarity is due to an introgression of T. b. ruidosae mtDNA into T. b. actuosus nuclear background. Evidence of introgression is not limited to the present-day contact zone between these two taxa, but extends at least 75 km away from it. The actuosus haplotype coexists along with the ruidosae mtDNA in the Gallinas Mts., which are inhabited by otherwise pure T. b. actuosus, while further north only typical actuosus haplotypes were detected. Of several potential mechanisms which could lead to such a geographical pattern of variation, we argue that a combination of range shifts due to climatic fluctuations, and genetic drift are most likely. Horizontal gene transfers due to hybridization are historical events which seem rather common among pocket gophers. Although they can be identified with careful phylogenetic study using independent data sets, the potential for misinterpreting a gene tree as an organismal tree is great in this and other groups of animals.

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