Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping

Evidence for Positive Selection on the Osteogenin (BMP3) Gene in Human Populations

Background: Human skeletal system has evolved rapidly since the dispersal of modern humans from Africa, potentially driven by selection and adaptation. Osteogenin (BMP3) plays an important role in skeletal development and bone osteogenesis as an antagonist of the osteogenic bone morphogenetic proteins, and negatively regulates bone mineral density. Methodology/Principal Findings: Here, we resequenced the BMP3 gene from individuals in four geographically separated modern human populations. Features supportive of positive selection in the BMP3 gene were found including the presence of an excess of nonsynonymous mutations in modern humans, and a significantly lower genetic diversity that deviates from neutrality. The prevalent haplotypes of the first exon region in Europeans demonstrated features of long-range haplotype homogeneity. In contrast with findings in European, the derived allele SNP Arg192Gln shows higher extended haplotype homozygosity in East Asian. The worldwide allele frequency distribution of SNP shows not only a high-derived allele frequency in Asians, but also in Americans, which is suggestive of functional adaptation. Conclusions/Significance: In conclusion, we provide evidence for recent positive selection operating upon a crucial gene in skeletal development, which may provide new insight into the evolution of the skeletal system and bone development.

Structure and anti-HIV activity of micrandilactones B and C, new nortriterpenoids possessing a unique skeleton from Schisandra micrantha

Two new highly oxygenated nortriterpenoids with a unique norcycloartane skeleton, micrandilactones B and C (1-2), were isolated from Schisandra micrantha; micrandilactone C ( 2) exhibited an EC50 value of 7.71 mu g/mL (SI > 25.94) against HIV-1 replication with minimal cytotoxicity, and the potent anti-HIV-1 activity and unique structural features of 2 make it a promising lead for therapeutic development of a new generation of anti-HIV drug.

High Altitude Adaptation and Phylogenetic Analysis of Tibetan Horse Based on the Mitochondrial Genome

研究测定了西藏那曲(4,500 m)、云南中甸(3,300 m)、云南德钦(3,300 m)地区3匹藏马线粒体全基因组序列.3个地区的藏马线粒体基因组全长以及结构均与韩国济州岛的马类似,但比瑞典马线粒体基因组短.藏马基因组在DNA序列上的两两相似性达99.3%.通过对线粒体蛋白编码区的分析发现,NADH6基因的蛋白序列在三匹藏马中均表现快速进化的现象.这表明NADH6基因在藏马高原适应进化过程中扮演着重要角色.此外,利用7匹藏马的D-loop区域序列以及与其亲缘关系较近的马的序列首次构建的藏马的系统发育树显示,那曲藏马与中甸、德钦藏马属于不同的分支,且存在较大的遗传多样性,表明藏马可能为多地区起源.

FEEDING AND VOCAL BEHAVIORS OF BLACK GIBBONS (HYLOBATES-CONCOLOR) IN YUNNAN - A PRELIMINARY-STUDY

Feeding and vocal behaviours of wild black gibbons (Hylobates concolor) were observed from 1987 to 1989 in south-western Yunnan, notably H. concolor jingdongensis at Mt. Wuliang (24-degrees 18-42'N, 100-degrees 30-50'E) in the early spring of 1989. 12 plant species were observed to have been eaten by the gibbons; these included tree species, lianas and epiphytes. Approximately 21 % of feeding time was devoted to eating fruits, 61 % to leaf buds and shoots, 7 % to flowers and 11 % to leaves. The gibbons preferred fruits to leaves even though they commonly ate leaves. In this study, the morning songs (duet and solo), reponsive (territorial) songs, alarm calls and communication calls were recorded. The gibbons sang their morning songs mainly in the early morning, with a single bout lasting more than 10 min on average. The singing of a group would trigger other groups, and all groups in an area tended to sing sequentially. The morning duet song bout was dominated by an adult male. The male emitted booms, aa notes, early multimodulated figures, intermediate multimodulated figures and codas, the latter occurring only in duets following the female's great call. The female uttered great calls and abortive great calls. The subadults or juveniles also took part in the morning songs. Lone males were heard to utter solos which lasted longer than the duets of the pairs.

Study of intensity-dependent nonlinear optical coefficients of GaP optical crystal at 800 nm by femtosecond pump-probe experiment

The intensity-dependent two-photon absorption and nonlinear refraction coefficients of GaP optical crystal at 800 nm were measured with time-resolved femtosecond pump-probe technique. A nonlinear refraction coefficient of 1.7*10^(-17) m2/W and a two-photon absorption coefficient of 1.5*10^(-12) m/W of GaP crystal were obtained at a pump intensity of 3.5*10^(12) W/m2. The nonlinear refraction coefficient saturates at 3.5*10^(12) W/m2, while the two-photon absorption coefficient keeps linear increase at 6*10^(12) W/m2. Furthermore, fifth-order nonlinear refraction of the GaP optical crystal was revealed to occur above pump intensity of 3.5*10^(12) W/m2.