Identification of chromosome rearrangements between the laboratory mouse (Mus musculus) and the Indian spiny mouse (Mus platythrix) by comparative FISH analysis

Comparative chromosome painting was applied to the Indian spiny mouse (Mus platythrix) with mouse (M. musculus) chromosome-specific probes for understanding the process of chromosome rearrangements between the two species. The chromosome locations of the 5S and 18S-28S ribosomal RNA genes and the order of the 119 and Tcp-1 genes in the In(17)2 region of the t-complex were also compared. All the painting probes were successfully hybridized to the Indian spiny mouse chromosomes, and a total of 27 segments homologous to mouse chromosomes were identified. The comparative FISH analysis revealed that tandem fusions were major events in the chromosome evolution of the Indian spiny mouse. In addition, other types of chromosome rearrangements, i.e. reciprocal translocations and insertions, were also included.     

Heterosis of adult mouse (Mus musculus) ultrasonic vocalizing

Four sets of adult mice (Mus musculus), each comprised of individuals from two inbred strains and both reciprocal F₁ crosses, were tested during male-female and female-female dyadic encounters for their emission of 70-kHz ultrasonic vocalizations. For each sex-dyad type of each set, a single progeny mean representing both reciprocal F₁ groups was calculated and compared to (1) the average value from the inbred parents and (2) the higher mean of the within-set progenitor inbred strains. In addition to demonstrating strain-and sex-influenced ultrasonic vocalizing levels, the results indicated that for each set examined, the F₁-progeny mean amount of ultrasonic vocalizing significantly exceeded the average inbred parent value. This was true for both dyad types, providing strong evidence that ultrasonic vocalizing displlays a directional dominance mode of inheritance in both female and male mice. Moreover, for female-female dyads of all four sets and for male-female dyads of three of four sets, the F₁-progeny mean amount of ultrasonic vocalizing significantly exceeded that of the highest progenitor inbred strain. Analyses of ultrasonic vocalizing latencies yielded similar hybrid-inbred differences. Collectively, these findings are interpreted as being consistent with the notion that, for both sexes of mice, ultrasonic vocalizing is a phenotypically heterotic behavioral trait.This research was supported, in part, by a Florida State University Psychobiology Fellowship awarded to J.C.M. and by NINCDS Grant NS 15560.     

Maternal pheromone: A demonstration of its existence in the mouse (Mus musculus)

A series of preference tests were conducted to determine whether the mouse produces a pup-attracting odor during lactation, similar to the case of the albino rat. Mouse pups preferred to be near the odor of lactating mice rather than the odor of virgin females, and the pups did not appear to discriminate between their own mothers and unfamiliar lactating females. Thus, the mouse, like the rat, appears to produce a maternal pheromone during lactation.     

Care of young under communal conditions in the mouse (Mus musculus)

Lactating mice and their young were housed with either virgin female or male mice. Virgin females cared for the young as much as did the lactating animals and in one instance were actually seen to aid in their delivery. Males displayed little caretaking behavior in the communal situation but exhibited a full range of such behavior when housed individually with young.     

Nomenclature and overview of the mouse (Mus musculus and Mus sp.) immunoglobulin kappa (IGK) genes

'Nomenclature and overview of the mouse (Mus musculus and Mus sp.) immunoglobulin kappa (IGK) Genes', the 19th report of the 'IMGT Locus in Focus' section, provides the first complete list of all the mouse (M. musculus) IGK genes. The mouse (M. musculus) locus spans 3,200 kb. The total number of mouse (M. musculus) IGK genes per haploid genome is 164 (174 if the orphons are included). The functional genomic repertoire comprises 93 IGKV belonging to 18 subgroups, 5 IGKJ and 1 IGKC gene. IMGT gene names and definitions of the mouse (M. musculus) IGK genes on chromosome 6 and IGK orphons are provided with the gene functionality and the number of alleles, according to the concepts of IMGT-ONTOLOGY and to rules of the IMGT Scientific chart, with the accession numbers of the IMGT reference sequences. These tables and figures are available at the IMGT Marie-Paule page of IMGT, the international ImMunoGeneTics database (http://imgt.cines.fr) created by Marie-Paule Lefranc, Université Montpellier II, CNRS, France.     

中国野生小鼠1号染色体遗传结构研究

目的 对我国25个不同地区野生小鼠遗传多样性进行检测.方法 本研究利用1号染色体上20对微卫星标记,采用多重PCR技术对我国25个不同地区野生小鼠遗传多样性进行检测,统计了野生小鼠群体等位基因数、期望杂合度、等位基因范围、G-W统计量以及群体间的遗传距离.利用MEGA软件进行系统发生分析.结果 野生小鼠群体在20个STR位点上平均等位基因数为(15.4±3.5),而实验小鼠群体在20个STR位点上平均等位基因数为(5.3±1.0).而对于两个群体之间的平均期望杂合度来说,野生小鼠群体(0.886±0.04)明显高于实验小鼠群体(0.727±0.112)(t=-6.7025,P=1.04×10-6).在野生小鼠群体中20个STR位点的G-W统计量为(0.781±0.132),明显高于实验小鼠群体的G-W统计量(0.377±0.184)(t=-8.8744,P=1.76×10-8).结论 这些指标都说明野生小鼠具有更丰富的遗传多样性.根据不同野生小鼠群体与实验小鼠群体间的聚类分析,显示野生小鼠群体与实验小鼠群体明显聚为两个类别.

Abstract：

Objective Recent studies have shown that the genetic diversity of wild mouse (Mus musculus )is far more extensive than the laboratory mice, and these diversities are useful for genetic studies of complex traits and can be important genetic resources. This sutdy is to detect the diversity of wild mice captured in 25 regions of China. Methods In this study, 20 STR loci of Chr1 were selected and analyzed, using multiplexed tandem PCR ( MT-PCR ) technology to detect the diversity of wild mice captured. The allele number, expected heterozygosity, allele range, G-W index of wild mice, and genetic distance between wild mouse populations were calculated by Alequin software. MEGA software is used for phylogenetic analysis. Results Wild mice had number of alleles of ( 15.4±3.5 ) for 20 STR loci,while the laboratory mcie had (5.3 ± 1.0 ) alleles. The wild had higher level of average expected heterozygosity (0. 886 ±0.04 ) for 20 STR loci than the laboratory derived hybrids (0. 727 ± 0. 112 ),(t= -6.7025, P=1.04 × 10-6). The G-W stat of 20 STRloci were (0.781 ± 0. 132) in wild population, significantly higher than those of laboratory mice whose G-W stat were (0.377± 0. 184 )(t= -8.8744, P=1.76×10-8). Conclusion Wild mouse (Mus musculus) has more extensive genetic diversity. According to the cluster analysis between wild mice and laboratory mice, they were clearly clustered into two categories.     

Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia

A 72-year-old female with metastatic breast cancer developed oligoblastic granulocytic leukemia 6 months after initiation of chemotherapy. Cytogenetic examination of the bone marrow cells revealed a balanced t(X;19)(q12;q13.3) as the sole abnormality in 50% of the metaphases. The remaining cells showed a normal female karyotype. The der(19) chromosome displayed consistent folding in the Xq13-q23 region in all metaphases, indicating involvement of the inactive X chromosome in translocation.     

An evaluation of the inactive mouse X chromosome in somatic cell hybrids

The expression of mouseZfx, Rps4, Ube1x, andXist was evaluated in hamstermouse somatic cell hybrids containing either an active or an inactive mouse X chromosome using polymerase chain reaction of reverse transcribed RNA (RT-PCR). The results showed thatZfx, Rps4, andUbe1x are expressed exclusively from the active mouse X, whileXist is expressed exclusively from the inactive X. These findings confirm the pattern of X inactivation for these mouse genes reported previously based on expression in somatic tissues of F₁ females from interspecific crosses. These results demonstrate the existence of differences between human and mouse X inactivation, as the corresponding human genes,ZFX, RPS4X, andUBE1 escape X inactivation.     

Translocation (X;20) involving the inactive X chromosome in a patient with myeloproliferative disorder

We report a patient with an unclassifiable myeloproliferative disorder and the rare t(X;20)(q13;q13.3) as the sole cytogenetic abnormality. The breakpoint on Xq is consistent with other reports of translocations involving the X chromosome with breakpoints that cluster to Xq13 and association with myeloid disorders. Late replication studies demonstrated the inactive X chromosome was involved in this translocation. The critical event in patients with myeloproliferative disease and deletion of 20q appears to be the loss of tumor suppressor genes. This may also be the mechanism in this patient with a potential cryptic deletion associated with the translocation. Alternatively, spreading of X inactivation into the derivative chromosome 20 provides a second mechanism for the loss of function of tumor suppressor genes on 20q. The finding in this patient of t(X;20) together with three others reported in the literature indicates that this may represent a primary non-random abnormality associated with myeloid malignancy, which may take on clinical significance with the accumulation of more cases.     

Precision stereotaxic procedure for the mouse (Mus musculus): method and instrumentation.

A precision stereotaxic procedure for mouse brain research is described accompanied by a new design in mouse stereotaxic head holder and a new device used to guarantee accurate alignment of the skull in the stereotaxic device. This method and instrumentation when applied in forthcoming research will contribute to the development of investigations of structure/function relationship in mouse brain.     

河北汉族人群五个基因座遗传多态性研究

目的调查DXS6801，DXS6809，DXS7423，DXS7424，DXS9902五个基因座在河北汉族人群中的遗传多态性。方法用PCR和变性聚丙烯酰胺凝胶电泳及DNA序列分析河北汉族114名无关男性及118名无关女性个体DXS6801，DXS6809，DXS7423，DXS7424，DXS9902五个基因座的遗传多态性。结果5个基因座共发现了31个等位基因，男性个体共检出了101种单倍型，男性单倍型多样性为0．9975。论结5个基因座在河北汉族人群中有较高的多态信息含量，有潜在的法医学应用价值。并为X染色体短串联重复序列数据库的建立提供了河北汉族人群的遗传学数据。     

Reactivation ofhprt on the inactive X chromosome with DNA demethylating agents

The C86 line of female embryonal carcinoma cells contains one active and one inactive X chromosome. Following methylnitrosourea mutagenesis, a clone called C86AGM2 was isolated that carries a mutated hprtgene on the active X chromosome. This hprt^m allele encodes an HPRT enzyme that has less than 1% normal enzyme activity, is thermolabile, and has an altered isoelectric point. Following treatment with drugs that demethylate DNA, the hprt⁺ gene from the inactive X chromosome in C86AGM2 cells became active as determined by the appearance of HPRT activity with the thermodenaturation and electrofocusing characteristics of the normal enzyme. No expression of this hprt⁺ gene occurred if C86AGM2 cells were induced to differentiate prior to DNA demethylation. Stable lines of C86AGM2 cells expressing both the hprt^m and hprt⁺ genes did not inactivate either gene following differentiation.     

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome

46,XX subjects carrying the testis determining SRY gene usually have a completely male phenotype. In this study, five very rare cases of SRY carrying subjects (two XX males and three XX true hermaphrodites) with various degrees of incomplete masculinisation were analysed in order to elucidate the cause of sexual ambiguity despite the presence of the SRY gene. PCR amplification of 20 Y chromosome specific sequences showed the Yp fragment to be much longer in XX males than in true hermaphrodites. FISH analysis combined with RBG banding of metaphase chromosomes of four patients showed that in all three true hermaphrodites and in one XX male the Yp fragment was translocated onto a late replicating inactive X chromosome in over 90% of their blood lymphocytes. However, in a control classical XX male with no ambiguous features, the Yp fragment (significantly shorter than in the XX male with sexual ambiguity and only slightly longer than in XX hermaphrodites) was translocated onto the active X chromosome in over 90% of cells. These studies strongly indicate that inactivation on the X chromosome spreading into a translocated Yp fragment could be the major mechanism causing a sexually ambiguous phenotype in XX (SRY+) subjects.     

Effect of an antiandrogen on attraction function of preputial glands in the wild mouse, Mus musculus L

The present report documents the inhibitory effect of an antiandrogen, cyproterone acetate (1 mg/0.1 ml/day X 3 weeks) on the production of a releaser pheromone from the male's preputial gland eliciting attraction to opposite sex in wild mice.     

珞巴族群体8个X染色体短串联重复序列位点的遗传多态性

目的调查西藏珞巴族人群8个位于X染色体上的短串联重复序列DXS7133、XS6789、DXS6804、DXS8378、DXSl01、DXS7424、DXS7132和HPRTB的等位基因及基因型频率分布。方法用聚合酶链反应、变性聚丙烯酰胺凝胶电泳和银染的方法检测96名健康珞巴族无关个体的X染色体8个STR位点基因多态性。结果DXS7133、DXS6789、DXS6804、DXS8378、DXSl01、DXS7424、DXS7132和HPRTB分别检出5种、8种、7种、5种、8种、8种、8种和5种等位基因；基因型频率分别分布在0．0040～0．4800、0．0076～0．3214、0．0078～0．3359、0．0076～0．5606、0．0154～0．3615、0．0076～0．3214、0．0149～0．2910、0．0408～0．3980之间，此8个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。结论中国珞巴族X染色体8个短串联重复序列基因座群体遗传数据资料，可用于法庭科学个体识别、亲子鉴定、疾病相关研究及人类学研究。     

X染色体上六个短串联重复序列基因座遗传多态性研究

目的研究陕西西安汉族人群6个位于X染色体上的短串联重复序列：DXS7130、DXS1214、DXS6799、DXS6804、DXS7424和DXS7133等位基因及基因型频率分布。方法随机抽取陕西西安汉族118名女性和90名男性无关个体静脉血，提取DNA，PCR扩增，变性聚丙烯酰胺凝胶电泳，银染检测结果。结果在6个基因座中，DXS7130、DXS6799、DXS6804、DXS7424和DXS7133分别检出9个、6个、6个、7个和7个等位基因；SY别检出21、14、15、17和12种基因型；基因频率分别分布在0．0112～0．4101、0．0160～0．4840、0．0050～0．3713、0．0053—0．3632和0．0059～0．5235之间，DXS1214检出8个等位基因，基因频率分布在0．0104～0．3161之间；此6个位点女性的基因型频率分布均符合Hardy—Weinberg平衡。结论此6个X染色体短串联重复序列位点有较高的个体识别率，在个体识别和女孩的亲权鉴定中有应用价值，对疾病相关研究有实际意义。     

Reaching and grasping phenotypes in the mouse (Mus musculus): a characterization of inbred strains and mutant lines

Skilled movements, such as reaching and grasping, have classically been considered as originating in the primate lineage. For this reason, the use of rodents to investigate the genetic and molecular machinery of reaching and grasping has been limited in research. A few studies in rodents have now shown that these movements are not exclusive to primates. Here we present a new test, the Mouse Reaching and Grasping (MoRaG) performance scale, intended to help researchers in the characterization of these motor behaviors in the mouse. Within the MoRaG test battery we identified early phenotypes for the characterization of motor neurone (Tg[SOD1-G93A](dl)1Gur mice) and neurodegenerative (TgN(HD82Gln)81Dbo transgenic mice) disease models in addition to specific motor deficits associated with aging (C3H/HeH inbred strain). We conclude that the MoRaG test can be used to further investigate complex neuromuscular, neurological, neurodegenerative and behavioral disorders. Moreover, our study supports the validity of the mouse as a model for reaching and grasping studies.