大熊猫遗传多样性的蛋白电泳研究

大熊猫(Ailuropoda melanoleuca)由于数量稀少,分布地区狭窄而割裂,食物单调,生殖力低下等原因而面临濒危境地.以往的工作多集中于野外的生态、行为、数量分布、群体年龄结构、食物等方面,对大熊猫群体遗传结构或群体遗传特征如近亲交配系数等我们知之甚少.众所周知,大熊猫的生存力很弱,尤其表现于其生育力低下,产仔率较一般哺乳动物低,幼仔死亡率高达60%;雄体的精液质量差,畸形精子率达29.7%;雌体存在延迟着床的生理现象.

云南不同地区绵羊血液蛋白多态性研究

本研究采用平板式淀粉胶蛋白电泳技术对来自德钦县、巧家县、腾冲县的绵羊进行了 34个同功酶及血液蛋白的研究 ,共检测 36个遗传座位 ,其中有 8个座位显示多态 ,德钦绵羊多态百分率P =0 .194 4 ,平均杂合度H =0 .0 6 4 7,平均等位基因数A =1.2 2 2 2 ;昭通绵羊P =0 .2 2 2 2 ,H =0 .0 6 5 1;A =1.2 2 2 2 ;腾冲绵羊P =0 .16 6 7,H =0 .0 6 0 8;A =1.16 6 7。表明云南不同地区绵羊在蛋白水平上遗传多样性较为丰富。运用Phylip3.5软件包中的”GENETDIST”计算标准遗传距离 ,再结合以往研究的数据 ,运用该软件包中的”NEIGHBOR”和”UPGMA”法进行聚类分析 ,结果表明 ,云南绵羊起源于同一共同祖先 ,云南绵羊与印度绵羊、尼泊尔绵羊关系较近 ,而与西藏绵羊关系较远

Evolution of the black muntjac (Muntiacus crinifrons) karyotype revealed by comparative chromosome painting

The black muntjac (Muntiacus crinifrons) has an unusual karyotype of 2n = 8 in females and 2n = 9 in males. We have studied the evolution of this karyotype by hybridising chromosome-specific paints derived from flow-sorted chromosomes of the Chinese muntjac (M. reevesi, 2n = 46) to chromosomes of the black muntjac. The hybridisation pattern allowed us to infer chromosomal homologies between these two species. Tandem and centromeric fusions, reciprocal translocations, and insertions are involved in the reduction of the diploid number from 2n = 46 to 2n = 8, 9. The painting patterns further show complex chromosomal rearrangements in the male black muntjac which involve more than half the karyotype, including both sex chromosomes. Since early meiosis is reported to be normal without any visible inversion loops of the synaptonemal complex, the observed chromosomal rearrangements would lead to heterosynapsis and, therefore, leave a large fraction of the male black muntjac karyotype balanced between the two sexes.

云南保种山羊血液同工酶遗传多样性研究

采用水平式淀粉胶电泳技术 ,对云南龙陵黄山羊、宁蒗黑头山羊、马关无角山羊和路南圭山羊等 4个保种山羊的 1 2 0个个体共 3 9个基因座位的基因多态性进行了研究。结果显示 ,云南 4个保种山羊品种在AKP、CES - 1、ESD、GOI、LAP、MDH、ME和NP基因座位出现多态。多态座位基因在不同保种山羊中分布不同。多态基因座位百分比 (P)在 4个保种山羊中分别为 0 .2 0 51 ,0 .1 53 8,0 .1 2 82和 0 .1 53 8。平均杂合度 (H)分别为 0 .0 95,0 .0 61 4 ,0 .0 4 67和 0 .0 662。用UPGMA法对由基因频率计算得到的Nei氏标准遗传距离进行聚类分析 ,结果表明云南保种山羊具地理分布及品种特点 ,龙陵黄山羊和其它 3个品种的遗传距离最远。

Reciprocal chromosome painting illuminates the history of genome evolution of the domestic cat, dog and human

Domestic cats and dogs are important companion animals and model animals in biomedical research. The cat has a highly conserved karyotype, closely resembling the ancestral karyotype of mammals, while the dog has one of the most extensively rearranged mammalian karyotypes investigated so far. We have constructed the first detailed comparative chromosome map of the domestic dog and cat by reciprocal chromosome painting. Dog paints specific for the 38 autosomes and the X chromosomes delineated 68 conserved chromosomal segments in the cat, while reverse painting of cat probes onto red fox and dog chromosomes revealed 65 conserved segments. Most conserved segments on cat chromosomes also show a high degree of conservation in G-banding patterns compared with their canine counterparts. At least 47 chromosomal fissions (breaks), 25 fusions and one inversion are needed to convert the cat karyotype to that of the dog, confirming that extensive chromosome rearrangements differentiate the karyotypes of the cat and dog. Comparative analysis of the distribution patterns of conserved segments defined by dog paints on cat and human chromosomes has refined the human/cat comparative genome map and, most importantly, has revealed 15 cryptic inversions in seven large chromosomal regions of conserved synteny between humans and cats.

云南文山黄牛和迪庆黄牛的遗传多样性比较研究

本文通过细胞遗传学、mtDNARFLP（线粒体DNA、限制性片段长度多态性）和血液蛋白及同工酶3个方面的研究，分析了云南文山黄牛和迪庆黄牛的遗传多样性和遗传分化关系。结果：（1）细胞遗传学云南两个地方黄牛品种的Y染色体形态及其C一带具有显著多态性。文山黄牛和迪庆黄牛分别为一小的近端部和亚申部（或中部）着丝位Y染色体，并分别在Y染色体的臂端部和短臂的臂端部显示弱阳性C一带，说明文山黄牛的父系起源可能是瘤牛（Bosindicus），而迪庆黄牛是普遍牛（Bostaurus）。推测两种Y染色体可能是臂问倒位的结果。（2）mtD－NARFLP两个黄牛品种的111个个体的mtDNA经8种限制性内切酶酶切后，有个酶表现出多态，共检测到17种限制性态型。归结出的3种基因单倍型，分别是A－A－A－A－A－A－A型（瘤斗）、B－B－B－B－B—B－B型（普通型）和A－C－B－B－C－A－A型（耗半Bosgrunniens）。从基因单倍型在群体中的表现可看出，文山黄牛和迪庆黄牛都具有瘤牛和普通牛两种母系起源。但文山黄牛以瘤牛血统为主，迪庆黄牛以普通牛血统为主，而且还可能含有部价耗牛的血统。（3）血液蛋白及同工酶分析了两个黄牛品种的...

Karyotypic relationships of horses and zebras: results of cross-species chromosome painting

Complete sets of chromosome-specific painting probes, derived from flow-sorted chromosomes of human (HSA), Equus caballus (ECA) and Equus burchelli (EBU) were used to delineate conserved chromosomal segments between human and Equits burchelli, and among four equid species, E. przewalskii (EPR), E. caballus, E. burchelli and E. zebra hartmannae (EZH) by cross-species chromosome painting. Genome-wide comparative maps between these species have been established. Twenty-two human autosomal probes revealed 48 conserved segments in E. burchelli. The adjacent segment combinations HSA3/21, 7/16p, 16q/19q, 14/15, 12/22 and 4/8, presumed ancestral syntenies for all eutherian mammals, were also found conserved in E. burchelli. The comparative maps of equids allow for the unequivocal characterization of chromosomal rearrangements that differentiate the karyotypes of these equid species. The karyotypes of E. przewalskii and E. caballus differ by one Robertsonian translocation (ECA5 = EPR23 + EPR24); numerous Robertsonian translocations and tandem fusions and several inversions account for the karyotypic differences between the horses and zebras. Our results shed new light on the karyotypic evolution of Equidae. Copyright (C) 2003 S. Karger AG, Basel.

High-density comparative BAC mapping in the black muntjac (Muntiacus crinifrons): Molecular cytogenetic dissection of the origin of MCR 1p+4 in the X1X2Y1Y2Y3 sex chromosome system

The black muntjac (Muntiacus crinifrons, 2n = 8 female/9 male) is a critically endangered mammalian species that is confined to a narrow region of southeastern China. Male black muntjacs have an astonishing X1X2Y1Y2Y3 sex chromosome system, unparalleled i

Molecular evolution of CXCR1, a G protein-coupled receptor involved in signal transduction of neutrophils

Human neutrophils are a type of white blood cell, which forms an early line of defense against bacterial infections. Neutrophils are highly responsive to the chemokine, interleukin-8 (IL-8) due to the abundant distribution of CXCR1, one of the IL-8 receptors on the neutrophil cell surface. As a member of the GPCR family, CXCR1 plays a crucial role in the IL-8 signal transduction pathway in neutrophils. We sequenced the complete coding region of the CXCR1 gene in worldwide human populations and five representative nonhuman primate species. Our results indicate accelerated protein evolution in the human lineage, which was likely caused by Darwinian positive selection. The sliding window analysis and the codon-based neutrality test identified signatures of positive selection at the N-terminal ligand/receptor recognition domain of human CXCR1.

A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory

Neuropsin (kallikrein 8, ELKS) is a secreted-type serine protease preferentially expressed in the central nervous system and involved in learning and memory. Its splicing pattern is different in human and mouse, with the longer form (type II) only express

Adaptive evolution of SCML1 in primates, a gene involved in male reproduction

Background: Genes involved in male reproduction are often the targets of natural and/or sexual selection. SCML1 is a recently identified X-linked gene with preferential expression in testis. To test whether SCML1 is the target of selection in primates, we

Paternal genetic affinity between western Austronesians and Daic populations

Background: Austronesian is a linguistic family spread in most areas of the Southeast Asia, the Pacific Ocean, and the Indian Ocean. Based on their linguistic similarity, this linguistic family included Malayo-Polynesians and Taiwan aborigines. The lingui

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

Distribution of CCR2-64I and SDF1-3 ' A alleles and HIV status in 7 ethnic populations of Cameroon

Limited information is available on the prevalence among rural Africans of host genetic polymorphisms conferring resistance to HIV-1 infection or slowing HIV disease progression.We report the allelic frequencies of the AIDS-related polymorphisms CCR2-64I, SDF1-3#A, and CCR5-D32 in 321 volunteers from 7 ethnic groups in Cameroon. Allelic frequencies differed among the 7 ethnic groups, ranging from 10.8% to 31.3% for CCR2-64I and 0.0% to 7.1% for SDF1-3#A. No CCR5-D32 alleles were found. HIV seroprevalence was 6.9% in the total population and peaked at younger ages in girls and women than in boys and men. Among 15- to 54-year-olds, HIV seroprevalence varied from 2.0% to 11.1% among the village populations. Conditional logistic regression analysis using data from boys and men aged 15 to 54 years showed the number of CCR2-64I alleles to be a significant risk factor for HIV seropositivity (odds ratio per allele adjusted for age and matched on ethnic group = 6.3, 95% confidence interval: 1.3–30.3); this association was not found in women. The findings are consistent with the hypothesis that CCR2-64I alleles may delay HIV disease progression without affecting susceptibility to infection among men. We did not observe this relation among women, and other factors, such as multiple pregnancies or maternal stressors (eg, breastfeeding), may have masked any protective effect of CCR2-64I alleles. Further study of this issue among women is warranted. SDF1-3#A did not differ between HIV-seropositive and HIV-seronegative individuals but wasassociated with increasing age among HIV-seronegative women, suggesting a protective effect against HIV-1 infection.

金环蛇蛇毒中的一种新型胰蛋白酶抑制剂

目的:从金环蛇蛇毒中分离纯化名为bungaruskunin 1的一种新型胰蛋白酶抑制剂,并从其毒腺的cDNA文库中克隆出该胰蛋白酶抑制剂的cDNA全序列.方法:通过Sephadex G-50, CM-Sephadex C-25, HPLC, RP-HPLC (C4 column)方法分离纯化bungaruskunin 1.样品的丝氨酸蛋白酶抑制剂活性则是在室温条件下50mmol·L-1 Tris-HCl, pH 7.8的缓冲液中通过对显色底物的水解抑制作用来检测的.金环蛇毒腺RNA用TRIZOL提取,并用SMARTM PCR cDNA synthesis kit (Clontech)建成cDNA文库.根据其信号肽的保守区域合成引物从该文库中扩增出bungaruskunin 1的cDNA全序列,进行胶回收,酶连到pMDl8-T载体中转化测序.结果:bungaruskunin 1的前体由83个氨基酸组成,其中信号肽含有24个氨基酸,成熟肽即:bungaruskunin 1合有59个氨基酸.bungaruskunin 1的cDNA序列与从红腹伊澳蛇Pseudechis porphyriacus中分离纯化得到的丝氨酸蛋白酶抑制剂blackelin的cDNA序列的相似性高达64%.bungaruskunin 1是一种含有保守Kunitz端的Kuntiz蛋白酶抑制剂家族的一员,从而能够抑制蛋白酶和弹性酶的活性.在cDNA文库中,我们同时还筛选到了2种新的β-bungarotoxin B链的序列.结论:这些发现很好地证明了蛇中Kunitz/BPTI胰蛋白酶抑制剂和毒性神经的家族可能起源于共同的祖先.