African origin of modern humans in East Asia: A tale of 12,000 Y chromosomes

To test the hypotheses of modern human origin in East Asia, we sampled 12,127 male individuals from 163 populations and typed for three Y chromosome biallelic markers (YAP, M89, and M130). All the individuals carried a mutation at one of the three sites.

Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia

The regional distribution of an ancient Y-chromosome haplogroup C-M130 (Hg C) in Asia provides an ideal tool of dissecting prehistoric migration events. We identified 465 Hg C individuals out of 4284 males from 140 East and Southeast Asian populations. We genotyped these Hg C individuals using 12 Y-chromosome biallelic markers and 8 commonly used Y-short tandem repeats (Y-STRs), and performed phylogeographic analysis in combination with the published data. The results show that most of the Hg C subhaplogroups have distinct geographical distribution and have undergone long-time isolation, although Hg C individuals are distributed widely across Eurasia. Furthermore, a general south-to-north and east-to-west cline of Y-STR diversity is observed with the highest diversity in Southeast Asia. The phylogeographic distribution pattern of Hg C supports a single coastal 'Out-of-Africa' route by way of the Indian subcontinent, which eventually led to the early settlement of modern humans in mainland Southeast Asia. The northward expansion of Hg C in East Asia started similar to 40 thousand of years ago (KYA) along the coastline of mainland China and reached Siberia similar to 15 KYA and finally made its way to the Americas. Journal of Human Genetics (2010) 55, 428-435; doi:10.1038/jhg.2010.40; published online 7 May 2010

Sleeping sites, sleeping trees, and sleep-related behaviors of black crested gibbons (Nomascus concolor jingdongensis) at Mt. Wuliang, central Yunnan, China

Data on sleep-related behaviors were collected for a group of central Yunnan black crested gibbons (Nomascus concolor jingdongensis) at Mt. Wuliang, Yunnan, China from March 2005 to April 2006. Members of the group usually formed four sleeping units (adult male and juvenile, adult female with one semi-dependent black infant, adult female with one dependent yellow infant, and subadult male) spread over different sleeping trees. Individuals or units preferred specific areas to sleep; all sleeping sites were situated in primary forest, mostly (77%) between 2,200 and 2,400 m in elevation. They tended to sleep in the tallest and thickest trees with large crowns on steep slopes and near important food patches. Factors influencing sleeping site selection were (1) tree characteristics, (2) accessibility, and (3) easy escape. Few sleeping trees were used repeatedly by the same or other members of the group. The gibbons entered the sleeping trees on average 128 min before sunset and left the sleeping trees on average 33 min after sunrise. The lag between the first and last individual entering the trees was on average 17.8 min. We suggest that sleep-related behaviors are primarily adaptations to minimize the risk of being detected by predators. Sleeping trees may be chosen to make approach and attack difficult for the predator, and to provide an easy escape route in the dark. In response to cold temperatures in a higher habitat, gibbons usually sit and huddle together during the night, and in the cold season they tend to sleep on ferns and/or orchids.

Group Size and Composition of Black．and．White Snub．nosedMonkey(rhinopithecus)Estimated by Faecesof Sleeping Sites at Baima Snow Mountain

介绍了应用过夜地粪便来估计白马雪山黑白仰鼻猴群大小和组成的一种方法。该物种以单雄多雌单 元和全雄组的形式在树上过夜。粪粒根据其大小可分为3种类型：成年雄性的(最大)、成年雌性的(中等大小)和 未成年个体的(最小)。2000一2001年，搜集了滇西北白马雪山国家级自然保护区北部南任村(99。04 7E，28。34 7N) 附近黑白仰鼻猴群每个季节2个过夜地的粪粒。根据2001年11月猴群通过开阔地的数据来确定猴群组成。每个 季节，由于单雄多雌单元的成年个体数与其粪粒数正相关，所以二者回归直线的斜率可以看作是每个个体每晚 的平均排便量。由于该物种的栖息地主要为高山峡谷，而且能见度较低，因此，利用过夜地粪便比以前通过猴群 活动痕迹来估计猴群大小和组成相对准确、可靠。从估计成年雌性个体数的角度看，利用粪粒来估计种群大约有 9．4％的偏差。导致偏差的可能原因有杂草和灌丛对粪粒准确计数的影响、个体排粪率的差异以及成年雄性最小 粪粒与成年雌性最大粪粒的混淆等。该方法适应于栖息地和主要食物与本文研究种群相似的其他种群。

Sleeping sites of Rhinopithecus bieti at Mt. Fuhe, Yunnan

Data on sleeping site selection were collected for a group of black-and-white snub-nosed monkeys (Rhinopithecus bieti; around 80) at Mt. Fuhe, Yunnan, China (99degrees20'E, 26degrees25'N, about 3,000 m asl) from November 2000 to January 2002. At the site mainly three vegetation types were present in an elevation-ascending order: deciduous broad leaf forest, mixed coniferous and broad leaf forest, and dark coniferous forest. In addition, bamboo forest presented in areas burned in 1958. Sleeping sites (n = 10) were located in the coniferous forest, where trees were the tallest, bottommost branches were the highest, the diameter of crowns was the second largest, and the gradient of the ground was the steepest. Monkeys usually kept quiet during entering and staying at a sleeping site. The site choice and the quietness may be tactics to avoid potential predators. In the coniferous forest, however, monkeys did not sleep in the valley bottom where trees were the largest, but frequently slept in the middle of the slope towards the east/southeast, in the shadow of ridges in three other directions, to avoid strong wind and to access sunshine; in winter-spring, they ranged in a more southern and lower area than in summer-autumn. These may be behavioral strategies to minimize energy stress in the cold habitat. Monkeys often slept in the same sleeping site on consecutive nights, which reflected a reduced pressure of predation probably due to either the effectiveness of anti-predation through sleeping site selection, or the population decline of predators with increasing human activities in the habitat. The group's behavioral responses to interactive and sometimes conflicting traits of the habitat are site-specific and conform to expectations for a temperate zone primate.

Sleeping sites of black-and-white snub-nosed monkeys (Rhinopithecus bieti) at Baima Snow Mountain, China

Data on sleeping sites of a group of black-and-white snub-nosed monkeys Rhinopithecus bieti (Colobinae, Primates) were collected between April-July and September-December 2001 to try to determine the factors affecting site selection at Nanren (99 degrees

Excision of Sleeping Beauty transposons: parameters and applications to gene therapy

A major problem in gene therapy is the determination of the rates at which gene transfer has occurred. Our work has focused on applications of the Sleeping Beauty (SB) transposon system as a non-viral vector for gene therapy. Excision of a transposon from a donor molecule and its integration into a cellular chromosome are catalyzed by SB transposase. In this study, we used a plasmid-based excision assay to study the excision step of transposition. We used the excision assay to evaluate the importance of various sequences that border the sites of excision inside and outside the transposon in order to determine the most active sequences for transposition from a donor plasmid. These findings together with our previous results in transposase binding to the terminal repeats suggest that the sequences in the transposon-junction of SB are involved in steps subsequent to DNA binding but before excision, and that they may have a role in transposase-transposon interaction. We found that SB transposons leave characteristically different footprints at excision sites in different cell types, suggesting that alternative repair machineries operate in concert with transposition. Most importantly, we found that the rates of excision correlate with the rates of transposition. We used this finding to assess transposition in livers of mice that were injected with the SB transposon and transposase. The excision assay appears to be a relatively quick and easy method to optimize protocols for delivery of genes in SB transposons to mammalian chromosomes in living animals. Copyright (C) 2004 John Wiley Sons, Ltd.

Gene transfer into genomes of human cells by the sleeping beauty transposon system

The Sleeping Beauty (SB) transposon system, derived from teleost fish sequences, is extremely effective at delivering DNA to vertebrate genomes, including those of humans. We have examined several parameters of the SB system to improve it as a potential, nonviral vector for gene therapy. Our investigation centered on three features: the carrying capacity of the transposon for efficient integration into chromosomes of HeLa cells, the effects of overexpression of the SB transposase gene on transposition rates, and improvements in the activity of SB transposase to increase insertion rates of transgenes into cellular chromosomes. We found that SB transposons of about 6 kb retained 50% of the maximal efficiency of transposition, which is sufficient to deliver 70-80% of identified human cDNAs with appropriate transcriptional regulatory sequences. Overexpression inhibition studies revealed that there are optimal ratios of SB transposase to transposon for maximal rates of transposition, suggesting that conditions of delivery of the two-part transposon system are important for the best gene-transfer efficiencies. We further refined the SB transposase to incorporate several amino acid substitutions, the result of which led to an improved transposase called SB11. With SB11 we are able to achieve transposition rates that are about 100-fold above those achieved with plasmids that insert into chromosomes by random recombination. With the recently described improvements to the transposon itself, the SB system appears to be a potential gene-transfer tool for human gene therapy.

Structure-function analysis of the inverted terminal repeats of the Sleeping Beauty transposon

Translocation of Sleeping Beauty (SB) transposon requires specific binding of SB transposase to inverted terminal repeats (ITRs) of about 230 bp at each end of the transposon, which is followed by a cut-and-paste transfer of the transposon into a target DNA sequence. The ITRs contain two imperfect direct repeats (DRs) of about 32 bp. The outer DRs are at the extreme ends of the transposon whereas the inner DRs are located inside the transposon, 165-166 bp from the outer DRs. Here we investigated the roles of the DR elements in transposition. Although there is a core transposase-binding sequence common to all of the DRs, additional adjacent sequences are required for transposition and these sequences vary in the different DRs. As a result, SB transposase binds less tightly to the outer DRs than to the inner DRs. Two DRs are required in each ITR for transposition but they are not interchangeable for efficient transposition. Each DR appears to have a distinctive role in transposition. The spacing and sequence between the DR elements in an ITR affect transposition rates, suggesting a constrained geometry is involved in the interactions of SB transposase molecules in order to achieve precise mobilization. Transposons are flanked by TA dinucleotide base-pairs that are important for excision; elimination of the TA motif on one side of the transposon significantly reduces transposition while loss of TAs on both flanks of the transposon abolishes transposition. These findings have led to the construction of a more advanced transposon that should be useful in gene transfer and insertional mutagenesis in vertebrates. (C) 2002 Elsevier Science Ltd. All rights reserved.