Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI. Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions. Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited. We studied a patient with Bethlem myopathy. Electron microscopy of his muscle biopsy revealed abnormal mitochondria. We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain. Mutant α2(VI) chains are unable to associate with α1(VI) and α3(VI) and are degraded by the proteasomal pathway. Some collagen VI is assembled, albeit more slowly than normal, and is secreted. These molecules contain the minor α2(VI) C2a splice form that has an alternative C terminus that does include the mutation. Collagen VI tetramers containing the α2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix. We expressed wild-type and mutant α2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell. These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.     

张掖国家湿地公园优势鸟类种群生态位研究

鸟类时空格局影响下鸟类种群生态位的变化是认识鸟类环境适应机制的理论基础。在张掖国家湿地公园保育区,采用样带法研究了冬春季节5种优势鸟类种群生态位宽度和生态位重叠的时间异质性。结果表明:随着月份的更替,5种优势鸟类种群的生态位宽度呈现出先增大后减小的变化趋势,赤麻鸭(Tadornaferruginea)、绿头鸭(Anasplatyrhynchos)、麻雀(Passer montanus)、白骨顶鸡(Fulicaatra)的最高值出现在1月分别为1.601、1.415、1.627、1.771,大白鹭(Ardea alba)的最高值出现在3月为0.556;不同月份间鸟类优势种群生态位重叠存在差异,3月、11月生态位的重叠值最大,1月份最小;优势鸟类种群的生态位宽度和重叠在时间尺度上表现出"此消彼长"的关系。湿地公园时间尺度上的鸟类生态位宽度和重叠的差异与湿地食物资源及隐蔽条件、鸟类群体迁徙规律、鸟类种间的竞争密切相关,反应了湿地鸟类适应生境变化的可塑性机制。     

元谋干热河谷冲沟坡度与植物优势种关系

在元谋干热河谷冲沟发育典型的三个样区(沙地村、金雷村、苴林村)采集48条冲沟的植物样方数据和冲沟沟底的坡度数据,运用重要值方法对植被优势种进行判别和筛选,以灌木优势种和草本优势种为主要研究对象,探讨植被优势种与冲沟沟底坡度的关系。结果表明：(1)灌木优势种为车桑子Dodonaea viscosa和山合欢Albizia kalkora,重要值分别为0.486和0.342,占灌木总体的83%;草本优势种为扭黄茅Heteropogon contortus、孔颖草Bothriochloa pertusa和茅草Imperata cylindrica,重要值分别为0.386、0.140及0.196,占草本总体的72%。(2)除草本优势种中的茅草盖度与坡度相关性显著(P<0.05)外,样区冲沟沟底坡度与灌木优势种和草本优势种相关性均不显著(P>0.05),表明在元谋干热河谷地区,冲沟沟底坡度对植被优势种生长状况影响较小。     

Acoustic signalling in female fish: factors influencing sound characteristics in croaking gouramis

The characteristics of sounds produced by fishes are influenced by several factors such as size. The current study analyses factors affecting structural properties of acoustic signals produced by female croaking gouramis Trichopsis vittata during agonistic interactions. Female sounds (although seldom analysed separately from male sounds) can equally be used to investigate factors affecting the sound characteristics in fish. Sound structure, dominant frequency and sound pressure levels (SPL) were determined and correlated to body size and the order in which sounds were emitted. Croaking sounds consisted of series of single-pulsed or double-pulsed bursts, each burst produced by one pectoral fin. Main energies were concentrated between 1.3 and 1.5 kHz. The dominant frequency decreased with size, as did the percentage of single-pulsed bursts within croaking sounds. The SPL and the number of bursts within a sound were independent of size but decreased significantly with the order of their production. Thus, acoustic signals produced at the beginning of agonistic interactions were louder and consisted of more bursts than subsequent ones. Our data indicate that body size affects the dominant frequency and structure of sounds. The increase in the percentage of double-pulsed bursts with size may be due to stronger pectoral muscles in larger fish. In contrast, ongoing fights apparently result in muscle fatigue and subsequently in a decline in the number of bursts and SPL. The factor ‘order of sound production’ points to an intra-individual variability of sounds and should be considered in future studies.     

Latitudinal cline of requirement for far‐red light for the photoperiodic control of budset and extension growth in Picea abies (Norway spruce)

To test for the effects of far‐red light on preventing budset in Picea abies , seedlings of six populations originating from latitudes between 67°N and 47°N were grown for 4–8 weeks in continuous incandescent (metal halogen) light at 300 µmol m⁻² s⁻¹ and 20°C and then transferred, at the same temperature, to a daily regime of 8 h incandescent light (300 µmol m⁻² s⁻¹) followed by 16 h cool white fluorescent light (40 µmol m⁻² s⁻¹). (Cool white lamps are deficient in far‐red light, with a R/FR ratio of 7.5 compared with 2.0 for the incandescent lamps.) All the seedlings from 67° and 80% of those from 64° stopped extension growth and set terminal buds within 28 days of the change of regime. The seedlings from 61° and further south continued growing, as did control seedlings from 67° grown as above but with incandescent light at 20 µmol m⁻² s⁻¹ replacing cool white illumination. To distinguish between a clinal and ecotypic pattern of variation, the interval between 64° and 59° was investigated by growing populations originating from that area in the same regimes as before. After 28 days in the cool white day‐extension regime, the percentage budset was 86 for the population from 64°, 0 for the population from 59° and 25–50 for the intermediate populations; i.e. the populations showed a clinal variation in requirement for far‐red light according to latitude. Thus northern populations of Picea abies appear to behave as 'light‐dominant' plants for the photoperiodic control of extension growth and budset, whereas the more southern populations behave as 'dark‐dominant' plants.     

百山祖常绿阔叶林优势种群的生态位

为了理解百山祖中山常绿阔叶林备优势种群在群落中的关系、地位和功能,用定量分析法,对该群落中平均重要值大于1%的13个优势种群的生态位特征进行了研究。结果表明:多脉青冈、麂角杜鹃和窄基红褐柃的生态位宽度较大,它们的Hurlbert生态位宽度(B_a)分别为0.878、0.825、0.806;而厚叶红淡比、亮叶水青冈和水丝梨的生态位宽度较小,它们的B_a分别为0.341、0.320、0.272。物种的生态位宽度与其重要值大小无关,但与其在各样方中的重要值均匀程度呈极显著的线性正相关。生态位相似性比例(C_(ih))最大的是多脉青冈与尖连蕊茶(0.832),最小的是凸脉冬青和水丝梨(0.248)。对生境需求相似而生态位宽度较小的厚叶红淡比与亮叶水青冈的C_(ih)高达0.758。同属植物多脉青冈与褐叶青冈、台湾冬青与凸脉冬青之间并不具有较大的C_(ih)值。生态位宽度较大的物种与其他物种的生态位重叠值一般较大;生态位相似性比例大的物种的生态位重叠值一般较大。多脉青冈与褐叶青冈、台湾冬青与凸脉冬青的生态位重叠值并不大。总体来看,群落优势种群之间的生态位重叠程度较低,说明该群落主要优势种群之间竞争不激烈群落稳定。该研究揭示了群落优势种群的生态位特征和结构稳定性,为生物多样性保护、群落演替和种群进化等研究提供了理论基础,也为自然保护区管理机构制定和完善保护措施提供参考依据。     

新疆四种优势种革蜱超微结构观察

【目的】明确新疆优势种革蜱超微结构鉴别特征,以期准确鉴别媒介蜱。【方法】本研究以新疆疫区4种优势种革蜱——边缘革蜱D.marginatus、草原革蜱D.nuttalli、森林革蜱D.silvarum和银盾革蜱D.niveus为实验材料,在体视显微镜下观察并鉴定物种后,进行扫描电镜观察。【结果】银盾革蜱、森林革蜱、草原革蜱和边缘革蜱体躯大小、盾板珐琅彩存在差异;银盾革蜱和边缘革蜱的肢节Ⅳ(股节、胫节和后跗节)腹面都具有3个齿状突,而草原革蜱的3个齿状突位于胫节和后跗节,森林革蜱仅后跗节有3个齿状突。此外,这4种优势种革蜱须肢腹面内侧缘刚毛排列、爪垫长度与爪长度之间的比例等特征也存在明显差异。【结论】银盾革蜱、森林革蜱、草原革蜱及边缘革蜱以肢节Ⅳ腹面齿状突和气门板为鉴别特征,结合须肢腹面内侧缘刚毛排列、爪垫长度与爪长的比例等特征,可快速准确鉴别,对新疆地区蜱传疾病综合防控具有应用意义。     

中国淡水原生动物多样性及其所受威胁

概述了地球上原生动物多样性现状,指出它在生物学界中的地位及其对人类的作用。从生态学概念出发,把淡水原生动物作为一个集合类群,对其多样性和所受威胁进行了讨论。以武汉东湖为例,讨论了半个世纪来由于人类活动的影响引起湖泊富营养化后,原生动物丰度增长了10倍,优势种出现替代现象,并有明显的小型化倾向。以长江三峡地区为例,分析了工业污染能损伤70％原生动物种类。原生动物多样性指数变化表明：在有机污染影响下作为饮用水的汉江其水质已达临界边缘。对待开发的西南武陵山地区生物资源考察中,用原生动物多样性现状阐明该地区水生态系的稳定性。