bluuebunny/crossref_metadata_2025 huggingface dataset:
Resistance training and timed essential amino acids protect against the loss of muscle mass and strength during 28 days of bed rest and energy deficit
Authors: Brooks Naomi , Cloutier Gregory J. , Cadena Samuel M. , Layne Jennifer E. , Nelsen Carol A. , Freed Alicia M. , Roubenoff Ronenn , Castaneda-Sceppa Carmen
Published: May 2008

Spaceflight and bed rest (BR) result in losses of muscle mass and strength. Resistance training (RT) and amino acid (AA) supplementation are potential countermeasures to minimize these losses. However, it is unknown if timing of supplementation with exercise can optimize benefits, particularly with energy deficit. We examined the effect of these countermeasures on body composition, strength, and insulin levels in 31 men (ages 31–55 yr) during BR (28 days) followed by active recovery (14 days). Subjects were randomly assigned to essential AA supplementation (AA group, n = 7); RT with AA given 3 h after training (RT group, n = 12); or RT with AA given 5 min before training (AART group, n = 12). Energy intake was reduced by 8 ± 6%. Midthigh muscle area declined with BR for the AA > RT > AART groups: −11%, −3%, −4% ( P = 0.05). Similarly, greatest losses in lower body muscle strength were seen in the AA group (−22%). These were attenuated in the exercising groups [RT (−8%) and AART (−6%; P < 0.05)]. Fat mass and midthigh intramuscular fat increased after BR in the AA group (+3% and +14%, respectively), and decreased in the RT (−5% and −4%) and AART groups (−1 and −5%; P = 0.05). Muscle mass and strength returned toward baseline after recovery, but the AA group showed the lowest regains. Combined resistance training with AA supplementation pre- or postexercise attenuated the losses in muscle mass and strength by approximately two-thirds compared with AA supplement alone during BR and energy deficit. These data support the efficacy of combined AA and RT as a countermeasure against muscle wasting due to low gravity.
Interrelationships among noninvasive measures of postischemic macro- and microvascular reactivity
Authors: Dhindsa Mandeep , Sommerlad Shawn M. , DeVan Allison E. , Barnes Jill N. , Sugawara Jun , Ley Obdulia , Tanaka Hirofumi
Published: May 2008

The clinical importance of vascular reactivity as an early marker of atherosclerosis has been well established, and a number of established and emerging techniques have been employed to provide measurements of peripheral vascular reactivity. However, relations between these methodologies are unclear as each technique evaluates different physiological aspects related to micro- and macrovascular reactive hyperemia. To address this question, a total of 40 apparently healthy normotensive adults, 19–68 yr old, underwent 5 min of forearm suprasystolic cuff-induced ischemia followed by postischemic measurements. Measurements of vascular reactivity included 1) flow-mediated dilatation (FMD), 2) changes in pulse wave velocity between the brachial and radial artery (ΔPWV), 3) hyperemic shear stress, 4) reactive hyperemic flow, 5) reactive hyperemia index (RHI) assessed by fingertip arterial tonometry, 6) fingertip temperature rebound (TR), and 7) skin reactive hyperemia. FMD was significantly and positively associated with RHI ( r = 0.47) and TR ( r = 0.45) (both P < 0.01) but not with reactive hyperemic flow or hyperemic shear stress. There was no correlation between two measures of macrovascular reactivity (FMD and ΔPWV). Skin reactive hyperemia was significantly associated with RHI ( r = 0.55) and reactive hyperemic flow ( r = 0.35) (both P < 0.05). There was a significant association between reactive hyperemia and RHI ( r = 0.30; P < 0.05). In more than 75% of cases, vascular reactivity measures were not significantly associated. We concluded that associations among different measures of peripheral micro- and macrovascular reactivity were modest at best. These results suggest that different physiological mechanisms may be involved in changing different measures of vascular reactivity.
Stroke Incidence in Women under 60 Years of Age Related to Alcohol Intake and Smoking Habit
Authors: Lu Ming , Ye Weimin , Adami Hans-Olov , Weiderpass Elisabete
Published: May 2008

Background and Purpose: The association between alcohol intake, cigarette smoking and risk of stroke amongst women remains unclear, especially in young women. Methods: This prospective cohort study included 45,449 Swedish women aged 30–50 years free of stroke and heart diseases at enrolment in 1991 and 1992. Information on drinking and smoking habits at enrolment was collected using a questionnaire. Incident stroke cases were identified through cross-linkage to the Swedish Inpatient Register. Cox proportional hazards regression models were used to calculate relative risks (RR) and their corresponding 95% confidence intervals (CIs). Results: During an average of 11 years of follow-up, 170 incident stroke cases, of which 111 ischemic and 47 hemorrhagic, were identified. Compared to abstainers, risk of stroke was reduced among women consuming less than 20 g (RR = 0.7, 95% CI 0.5–1.0) or 20–69.9 g (RR = 0.5, 95% CI 0.3–0.7) of alcohol per week, whilst women who consumed ≧70 g of alcohol per week had a nonsignificant reduced relative risk (RR = 0.7, 95% CI 0.4–1.3). We found no difference in stroke risk according to the types of alcoholic beverage consumed. Compared with never smokers, there was an increased risk of all strokes among current smokers of 1–9 cigarettes/day (RR = 2.3, 95% CI 1.5–3.7) or ≧10 cigarettes/day (RR = 2.6, 95% CI 1.7–4.1). The observed smoking-related excess risks were confined mainly to ischemic stroke. Former smokers had a 50–60% increase in RRs of both ischemic and hemorrhagic stroke. In stratified analyses, current smokers had a 4-fold excess risk if they were nondrinkers (RR = 4.2; 95% CI 2.2–7.8) but a lower risk (RR = 1.5; 95% CI 0.8–2.4) if they drank in moderation. Compared to never drinkers and never smokers, women who drank in moderation were also at reduced risk (RR = 0.6; 95% CI 0.3–1.1). These interactions were statistically significant (p = 0.001). Conclusions: Light to moderate alcohol intake, regardless of type of alcoholic beverage, reduces risk of stroke among women under 60 years of age, in particular those women who were never smokers. Smoking increases the risk of stroke, especially ischemic stroke.
Long-Term Stroke Prognosis in Relation to Medical Prevention and Lifestyle Factors
Authors: Li Cairu , Engström Gunnar , Janzon Lars , Hedblad Bo
Published: May 2008

Background: Few studies have focused on the quality of secondary prevention among long-term stroke survivors. This study explores the intensity of medical intervention and the impact of lifestyle and other risk factors on the long-term stroke prognosis in a population-based setting of Swedish individuals with a history of stroke. Methods: A population-based cohort (n = 28,449) in Malmö, Sweden, was recruited during 1991–1996. Of them, 394 had a history of stroke, according to self-reported physician diagnosis and record linkage with the Stroke Register in Malmö. Information on medical intervention and lifestyle factors was collected from the questionnaire. The incidence of a cardiac event (CE) or recurrent stroke was followed for 7.5 years after the baseline examination. Results: The prevalence of hypertension was 79.4% in patients with a history of stroke. Only half of them received blood-pressure (BP)-lowering medication, and 11.5% of them achieved a BP <140/90 mm Hg. Most patients with hypercholesterolemia did not receive lipid-lowering medication. Antithrombotic agents were used by 38%. Nearly one third were still smoking, and two thirds were overweight or obese. Compared to subjects without a history of stroke, the risk of cardiovascular disease (CVD, i.e. CE or recurrent stroke) was significantly higher in stroke survivors. The increased CVD risk was significantly associated with elevated BP levels. No significant relationship was found between CVD risk and lifestyle risk factors reported at the time of baseline examination. Conclusions: There was a large gap between recommended secondary preventive measures and their implementation in subjects with a history of stroke. Achieving recommended hypertension control may prevent a substantial proportion of the CE and recurrent strokes in this group.
Clinical Severity Predicts Time to Hospital Admission in Patients with Spontaneous Intracerebral Hemorrhage
Authors: Huttner Hagen B. , Köhrmann Martin , Tognoni Elena , Jüttler Eric , Richter Gregor , Dörfler Arnd , Reulbach Udo , Bassemir Teresa , Staykov Dimitre , Bardutzky Jürgen , Schellinger Peter D. , Schwab Stefan
Published: May 2008

Background: In this study we analyzed whether demographic, clinical and neuroradiological parameters are associated with time to hospital admission in patients with spontaneous intracerebral hemorrhage (ICH). We a priori hypothesized that the earlier a patient was admitted to hospital, the worse the clinical status would be. Methods: Demographic, clinical and neuroradiological parameters of consecutive patients with spontaneous ICH directly admitted to 2 neurological university departments were subjected to correlation, trichotomization and logistic regression analyses for prediction of (i) early hospital admission, and (ii) favorable clinical presentation at admission [dichotomized Glasgow Coma Scale (GCS) score ≧9]. Results: We analyzed 157 patients with a median age of 66 (39–93) years. Patient trichotomization according to the GCS revealed a significant difference (p < 0.001) between all groups with regard to the time from symptom onset to hospital admission: patients with a GCS score of 3–5 were admitted after 105 (40–300) min (mean: 113 ± 53), those with a GCS score of 6–9 after 180 (45–420) min (mean: 184 ± 95) and those with a GCS score of 10–15 after 300 (60–1,560) min (mean: 324 ± 367). There were significant correlations between (i) hematoma volume and GCS (r = –0.632; p < 0.001); (ii) time to admission and GCS (r = 0.596; p < 0.001), and (iii) Graeb scores for intraventricular hemorrhage and hematoma volume (r = 0.348; p < 0.001). In the multivariate regression model for prediction of time until hospital admission, presence of intraventricular hemorrhage and the GCS score on admission were significant. In the multivariate regression model for prediction of a GCS score of ≧9 on admission, hematoma volume and time until hospital admission were significant parameters. Conclusions: Clinically more severely affected patients were admitted to hospital earlier. This highlights the importance of most rapid diagnosis of ICH. Efforts should be made to get less severely affected patients admitted earlier as they might be ideal candidates for emerging innovative treatments.
The Impact of Stroke on Unpaid Caregivers: Results from the Auckland Regional Community Stroke Study, 2002–2003
Authors: Parag Varsha , Hackett Maree L. , Yapa Chaturangi M. , Kerse Ngaire , McNaughton Harry , Feigin Valery L. , Anderson Craig S.
Published: May 2008

Background: Few studies have assessed the longitudinal impact of providing unpaid care for stroke survivors. We aimed to describe the positive and negative impact of providing unpaid care and to identify independent predictors of poor carer outcome. Methods: The Auckland Regional Community Stroke study was a prospective population-based stroke incidence study conducted in Auckland, New Zealand, over a 12-month period in 2002–2003. Stroke survivors and their unpaid carers were assessed at 6 and 18 months after stroke onset using the Short Form 36 questionnaire and the Bakas Caregiving Outcomes Scale. Results: Data were available from 167 stroke survivor–carer pairs at 6 months and 62 pairs at 18 months. Unpaid carers reported lower health-related quality of life at 6 months after stroke than their age- and sex-matched counterparts in the New Zealand population. The impact of providing care was predominantly negative; however, approximately one third of the carers had improved relationships with the stroke survivor. No reliable predictors of carer burden were identified. Conclusions: This study re-emphasises the heavy burden of stroke on unpaid carers but was unable to identify factors that predicted carers at the greatest risk of experiencing a poor outcome. Effective strategies are needed to reduce the burden of providing unpaid care.
Subacute Combined Degeneration of the Cord: Putnam-Dana Syndrome
Authors: Pearce J.M.S.
Published: May 2008

The association of anaemia and gastro-intestinal abnormalities with disorders of the brain, spinal cord, and peripheral nerves has been recognized since the mid 19th century. In early reports interpretable as subacute combined degeneration, anaemia was overlooked, and conversely in Addison’s and other early reports of pernicious anaemia, cord and nerve changes were not recorded. This paper shows that Lichtheim first combined the two observations, and illustrates the excellent descriptions in 1890 of James Putnam and Charles Dana. The most complete early account was that of Russell, Batten and Collier in 1900.
Safety and Efficacy of MRI-Based Thrombolysis in Unclear-Onset Stroke
Authors: Cho A-Hyun , Sohn Sung-Il , Han Moon-Ku , Lee Deok Hee , Kim Jong S. , Choi Choong Gon , Sohn Chul-Ho , Kwon Sun U. , Suh Dae Chul , Kim Sang Joon , Bae Hee-Joon , Kang Dong-Wha
Published: May 2008

Background: Standard selection criteria for thrombolysis typically exclude patients with acute ischemic stroke with unclear onset. Multimodal MRI screening may be able to identify those with a favorable benefit-risk ratio for thrombolysis. We aimed to evaluate the safety and efficacy of MRI-based thrombolysis in unclear-onset stroke (UnCLOS). Methods: We reviewed the thrombolysis database registries from 3 medical centers in Korea. Subjects received thrombolysis with intravenous tissue plasminogen activator (tPA) or combined intravenous tPA and intra-arterial urokinase within 3 h, or intra-arterial urokinase within 6 h from symptom detection. For patients with UnCLOS, MRI-specific eligibility criteria (i.e. positive perfusion-diffusion mismatch and absence of well-developed fluid-attenuated inversion recovery changes of acute diffusion lesions) were applied. Rates of immediate and 5-day recanalization, early neurological improvement and symptomatic intracranial hemorrhage (ICH) within 48 h after treatment and 3-month modified Rankin Scale (mRS) scores were compared between patients with UnCLOS and those with clear-onset stroke (CLOS). Results: 32 patients with UnCLOS and 223 patients with CLOS were included. Baseline characteristics were comparable between the two groups, except that the proportion of MRI screening was higher, and detection-to-door time and door-to-needle time were longer in the UnCLOS group (p < 0.01). Rates of recanalization (immediate, 81.3 vs. 63.1%; delayed, 80.6 vs. 69.1%), early neurological improvement (on day 1, 46.9 vs. 35.9%; on day 7, 50.0 vs. 49.3%), symptomatic ICH (6.3 vs. 5.8%) and 3-month outcome (mRS 0–1, 37.5 vs. 35.0%; mRS 0–2, 50.0 vs. 49.3%) did not differ between the UnCLOS and CLOS groups. Conclusion: These preliminary results suggest that thrombolysis based on MRI criteria may safely be applied to acute stroke patients with unclear onset.
Metformin-Associated Lactic Acidosis in a Pregnant Patient
Authors: Hong Yu-Cheng , O’Boyle Ciaran P. , Chen I-Chuan , Hsiao Cheng-Ting , Kuan Jen-Tse
Published: May 2008

Metformin-associated lactic acidosis is a rare but serious condition and potentially even more hazardous during pregnancy. We reported a case of lactic acidosis in a 28-year-old pregnant woman (gravida 3, para 0, abortion 2, ante-partum 22 weeks) after ingestion of 39.50 g (approximately 80 tablets) metformin in a suicide attempt. She had no pre-existing systemic illness. Analysis of arterial blood gases revealed a high anion gap (28.1 mEq/l) and a normal osmol gap (8 mEq/l) metabolic acidosis. Other etiologies of high anion gap and normal osmol gap metabolic acidosis were excluded by laboratory investigation. The patient was treated on an emergency basis and received aggressive fluid management, intravenous sodium bicarbonate (1 mEq/kg) and activated charcoal, orally. The fetal condition was monitored intensively. The fetus was delivered smoothly via vaginal delivery in a healthy state at the 38th gestational week. Clinical follow-up over the next 2 years confirmed no congenital abnormality. We present a case of successful management of metformin-associated lactic acidosis during pregnancy, treated simply, with intravenous sodium bicarbonate and intensive fetal monitoring. This relatively noninvasive method is an effective treatment option. However, hemodialysis still has a valuable role in the management of acidosis which proves refractory to conservative treatment, such as that described.
Assignment of the human cyclin D3 gene (CCND3) to chromosome 6p→q13
Authors: Motokura T. , Yi H.F. , Kronenberg H.M. , McBride O.W. , Arnold A.
Published: May 2008

The PRAD1/cyclin D1 gene (CCND1), a member of the D-type cyclin gene family, has been implicated as a protooncogene in parathyroid, lymphoid, and mammary tumors. We cloned and mapped another member of this family, the human cyclin D3 gene (CCND3), to chromosome 6p→q13 using human × rodent hybrids. This assignment raises the hypothesis that cyclin D3 may be involved in the pathogenesis of human neoplasms with abnormalities of chromosome 6.
In situ hybridisation localises the gene for the major intrinsic protein of eye lens fibre cell membranes to human chromosome 12q14
Authors: Griffin C.S. , Shiels A.
Published: May 2008

The gene encoding the major intrinsic protein (MIP) of eye lens fibre cell membranes has been localised to human chromosome 12q14 by in situ hybridisation of a cDNA for rat MIP to G-banded metaphase chromosomes. The human MIP gene maps within a conserved region of synteny with mouse Chromosome 10.
Interstitial hybridization sites of the (TTAGGG)n telomeric sequence on the chromosomes of some North American hylid frogs
Authors: Wiley J.E. , Meyne J. , Little M.L. , Stout J.C.
Published: May 2008

Interstitial hybridization sites for the (TTAGGG)n telomeric repeat sequence were present in all seven species of hylid frogs examined and in a triploid hybrid between two of the species. Intra- and interspecific differences and similarities in hybridization sites agreed with what is known about the systematics of these species. Chromosome fusions, fissions, and inversions do not appear to have played a role in the evolution of the interstitial sites for the telomeric repeat in the species examined.
Induction of a BrdU-enhanceable fragile site-like lesion and sister chromatid exchanges at 11q23.1 in EBV-transformed lymphoblastoid cell lines
Authors: Seki N. , Tsuji H. , Takahashi E. , Yamauchi M. , Saito T. , Hashimoto T. , Yamamoto K. , Hori T.
Published: May 2008

We examined the expression of a fragile site-like lesion and induction of sister chromatid exchanges (SCEs) at 1 lq23.1 in EBV-transformed lymphoblastoid cell lines derived from carriers of distamycin A-inducible fragile sites and ataxia telangiectasia patients. The fragile site-like lesion at llq23.1 was found to be BrdU-enhanceable in all cell lines examined, and the expression frequencies increased linearly with the rates of BrdU substitution in replicated DNA. In addition, an increased frequency of SCEs was observed at 1 lq23.1 on the expressed chromosome. Thus, the BrdU-enhanceable fragile site-like lesion at 1 lq23.1 is a “hot spot” for the formation of SCEs, as has been reported for other rare and common fragile sites.
Sister chromatid differentiation and chromosomal in situ suppression hybridization: a combined methodology for analyzing cell proliferation and SCEs in individual chromosomes
Authors: Knuutila S. , Larramendy M.
Published: May 2008

A technique combining sister chromatid differentiation (SCD) with chromosomal in situ suppression (CISS) hybridization is described. This combined methodology allows simultaneous analysis of cell-proliferation kinetics and sister chromatid exchanges (SCEs) in chromosomes identified by probes. To demonstrate the usefulness of this approach, cultured fibroblasts from a patient with Pallister-Killian syndrome, mos46/47,+i(12p), a chromosome mosaicism disorder, were studied. The fibroblasts were cultured in the presence of 5-bro-modeoxyuridine (BrdU) for 72 h. Chromosome preparations were stained by a modified fluorescence-plus-Giemsa method to obtain SCD. For identification of the normal chromosome 12 and the i(12p), CISS hybridization with a biotin-labeled chromosome 12-specific library probe (LA 12NS01) was carried out after SCD. The hybridization was detected by an indirect immunofluorescence technique. For the analysis of cell kinetics and SCEs, the technique allows rapid, reliable identification of abnormal and normal cell populations. It also allows analysis of SCEs in individual chromosomes.
Tandem and centric fusions in the chromosomal evolution of the South American phyllotines of the genus Auliscomys (Rodentia, Cricetidae)
Authors: Walker L.I. , Spotorno A.E.
Published: May 2008

The karyotypes of three of the four extant species of the genus Auliscomys {A. micropus, living in central [2n = 32, NF = 34] and southern [2n = 34, NF = 36, 37] Chile; A sublimis [2n = 28, NF = 32] and A. boliviensis [2n = 22, NF = 32], which inhabit the Andean Altiplano) were analyzed. Comparisons of G-, C-, and AgNOR-banded karyotypes showed that extensive conservation of entire chromosomes and chromosomal regions had occurred during the evolution of this genus, with centromere-telomere tandem fusions and centric fusions probably being the most frequent chromosome changes. A chromosomal phylogeny, based on the chromosome homoeologies detected and parsimonious analysis of the nature and distribution of the inferred chromosomal changes, is proposed. This hypothetical phylogeny assumes that the ancestral telocentric karyotype would have undergone three consecutive tandem fusions, first originating the 2n = 32 (NF = 34) karyomorph exhibited by present-day specimens of A. micropus captured in central Chile and then the 2n = 28 (NF = 32) karyotype of A. sublimis. Subsequent centric fusions involving the tandemfusion products would presumably have generated the 2n = 22 (NF = 32) A. boliviensis karyotype. Assuming some conditions related to early geographic distribution, this chromosomal phylogeny is in agreement with a paleogeographic model, which explains the present distribution of living Auliscomys species mainly on the basis of geologic and climatic events. Given the drastic reproductive isolating effects previously reported for tandem fusions, as well as the cumulative nondisjunction and malsegregation effects likely caused by multiple, simultaneous centric fusions, we believe that both tandem and centric fusions played a causal role in the speciation of Auliscomys.
Localisation of the beta crystallin Cryb gene to mouse Chromosome 2B→C1 by in situ hybridisation
Authors: Griffin C.S. , Muggleton-Harris A.L.
Published: May 2008

The beta crystallin gene Cryb (βA3/Al) has been assigned to mouse Chromosome 2 region B→C1 by in situ hybridisation to metaphase chromosomes from mouse foetal liver and bone marrow preparations of Rb(2.17)4H mice using a murine cDNA (pMβ23Crl) probe.
Synaptonemal complex analysis of an autosomal trisomy in the horse
Authors: Power M.M. , Gustavsson I. , Świtoński M. , Plöen L.
Published: May 2008

Synaptonemal complex analysis by electron microscopy of a trisomy 28 in a male horse demonstrated a trivalent or a bivalent plus a univalent in primary spermatocytes. Two of the chromosomes making up the trivalent were, most often, completely paired with each other and only partially paired or associated with the third one. Half of the spermatocytes analysed demonstrated heterologous pairing or association between the free axis of the trivalent and the sex bivalent. The pairings remained, to a large extent, into diakinesis-metaphase I. In most pachytene cells one autosomal bivalent showed proximal asynapsis and paired often, heterologously, with the trivalent or the sex bivalent. The horse demonstrated azoospermy, which was due, at least in part, to degeneration at both the spermatocyte and spermatid levels.
The gene for leukocyte antigen-related tyrosine phosphatase (LAR) is localized to human chromosome 1p32, a region frequently deleted in tumors of neuroectodermal origin
Authors: Jirik F.R. , Harder K.W. , Melhado I.G. , Anderson L.L. , Duncan A.M.V.
Published: May 2008

In situ hybridization was employed to localize a cDNA probe from the human protein tyrosine phosphatase gene LAR to human metaphase chromosomes. LAR, a putative tumor suppressor gene, has been localized to lρ32, a chromosomal region that is frequently found deleted in human neuroblastoma and pheochromocytoma.
Location of the mouse complement factor H gene (cfh) by FISH analysis and replication R-banding
Authors: Matsuda Y. , Harada Y.-N. , Natsuume-Sakai S. , Lee K. , Shiomi T. , Chapman V.M.
Published: May 2008

A technique for replication R- and G-banding of mouse lymphocyte chromosomes was developed, and the replication R-banding pattern was analyzed. Optimal banding patterns were obtained with thymidine- and BrdU-treatment of lymphocytes in the same cell cycle. This produced replication R-band patterns that were the complete reverse of the G-band patterns on all chromosomes. Replication R-banding methods can be used in conjunction with nonisotopic, fluorescence in situ hybridization (FISH) to localize cloned probes to specific chromosomal bands on mouse chromosomes. With these methods the mouse complement factor H gene (cfh) was localized to the terminal portion of the F region of Chromosome 1. Q-banding patterns were also obtained by the replication R-banding method and may be useful for rapid identification of each chromosome.
Chromosomal localization of the ovine beta-casein gene by non-isotopic in situ hybridization and R-banding
Authors: Hayes H. , Petit E. , Lemieux N. , Dutrillaux B.
Published: May 2008

The ovine beta-casein gene (CSN2) has been mapped to a specific chromosome band using nonradioactive in situ hybridization and simultaneous fluorescent R-banding. The probe pTZ-E4 was a fragment of the ovine beta-casein gene inserted in the plasmid pTZ18R and labeled with biotin-11-dUTP. It hybridized to band q32 of ovine chromosome 4. The discrepancy between this result and the previous localization of this gene on cattle chromosome 6 may be explained by the very great similarity of the banding patterns of ovine and bovine chromosomes 4 and 6.
Translocations between two specific human chromosomes detected by three-color “chromosome painting”
Authors: Lucas J.N. , Poggensee M. , Straume T.
Published: May 2008

Translocations between two specific chromosomes are important markers for many human malignancies. Previously, the detection of translocations involving random breakpoints between two specific chromosomes could only be accomplished by banding techniques, which are severely labor intensive and require highly trained technicians. The three-color chromosome painting approach described in this paper was developed in our laboratory to detect translocations between two specific human chromosomes rapidly and accurately, while simultaneously revealing the nonhybridized chromosomes. Because this method efficiently detects translocations involving breakpoints anywhere on the targeted chromosomes, it is ideal as a screening tool for chromosome-specific translocations.
Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization
Authors: Greenspan D.S. , Byers M.G. , Eddy R.L. , Hoffman G.G. , Shows T.B.
Published: May 2008

An 8-kb genomic probe, containing 34 collagen-encoding exons, was localized to 3p21.3 by fluorescence in situ hybridization. The genomic probe encoded a previously uncharacterized carboxyl terminal portion of the αl(VII) collagen chain.This mapping result confirms the previous assignment of the αl(VII) gene (COL7A1) to 3p21 and offers a finer subregional localization than was previously available,
Regional assignment of rat androsterone UDP-glucuronosyltransferase gene (UGT2B2) to chromosome 14p21.2-p22
Authors: Satoh H. , Nagai F. , Homma H. , Mori S. , Matsui M.
Published: May 2008

Rat androsterone UDP-glucuronosyltransferase gene (UGT2B2) was regionally assigned to chromosome band 14p21.2-p22 by fluorescence in situ hybridization using a biotinylated cDNA (1.8-kb insert) probe. The present mapping is the first report on the precise localization of the rat UGT2B2 on high resolution banded metaphase chromosomes.
Analysis of aphidicolin-induced chromosome fragility in the domestic pig (Sus scrofa)
Authors: Riggs P.K. , Kuczek T. , Chrisman C.L. , Bidwell C.A.
Published: May 2008

Aphidicolin (APC)-sensitive fragile sites were identified in chromosome preparations from peripheral lymphocyte cultures of 12 four-way crossbred pigs. A χ2 analysis demonstrated that aphidicolin-induced breakage events and previously reported in vivochromosome rearrangement events were not independent. Comparison of expected Poisson and negative binomial distributions to observed breakage patterns indicated that the negative binomial distribution provided a better fit to experimental data. The negative binomial distribution is consistent with a distribution of breakage rates, i.e., non-constant rates of breakage at chromosomal loci across the genome.
The human endothelin-1 gene (EDN1) encoding a peptide with potent vasoactive properties maps distal to HLA on chromosome arm 6p in close linkage to D6S89
Authors: Hoehe M.R. , Ehrenreich H. , Otterud B. , Caenazzo L. , Plaetke R. , Zander H. , Leppert M.
Published: May 2008

We determined the precise genetic location of the human endothelin-1 gene (EDN1), which encodes a peptide with extremely potent vasoactive properties and is apparently involved in a spectrum of diseases ranging from hypertension to asthma. Analyzing the segregation of a four-allele EDN1 polymorphism in 40 CEPH families including 480 individuals, we detected significant linkage of EDN1 to DNA markers spanning the telomeric half of chromosome arm 6p. EDN1 was closest to the highly polymorphic nucleotide-repeat marker D6S89 at a theta = 0.06 with the highest pairwise LOD score Zmax = 31.2. Subsequent multipoint analysis placed EDN1 at 8 cM distal to D6S89; EDN1 was flanked at its telomeric site at a 13-cM distance by the gene encoding the A subunit of blood clotting factor XIII (F13A1). Furthermore, EDN1 was located at approximately 34–36 cM distal to the HLA region defined by HLA-A, -B, and -DRB1, and 31 cM proximal to the most telomeric marker D6S7. This location of EDN1 on the primary genetic map is strongly supported with odds of 2.7 × 1012:1 against the next best alternative.
Localization of the human α2-plasmin inhibitor gene (PLI) to 17p13
Authors: Kato A. , Hirosawa S. , Toyota S. , Nakamura Y. , Nishi H. , Kimura A. , Sasazuki T. , Aoki N.
Published: May 2008

We previously assigned the human α2-plasmin inhibitor gene (PLI) to 18p11.1→q11.2 by isotopic in situ hybridization. However, results obtained subsequently via Southern blot analysis of somatic cell hybrids and fluorescence in situ hybridization studies indicate that the gene is located at 17p13. Accordingly, we reassign PLI to 17p13.
In Situ Hybridization applied to Waardenburg Syndrome
Authors: Wu B.-L. , Milunsky A. , Wyandt H. , Hoth C. , Baldwin C. , Skare J.
Published: May 2008

Multilocus linkage analysis has suggested that the Waardenburg syndrome type 1 (WS1) locus is flanked by placental alkaline phosphatase (ALPP) and fibronectin 1 (FNl). We used fluorescence in situ hybridization (FISH) to map ALPI (intestinal alkaline phosphatase) to 2q36.3-q37.1 and FNl to 2q34. FISH also showed that a WS1 patient with a de novo interstitial deletion of 2q35-q36.1 retained both ALPI and FNl on the deleted chromosome. The human PAX3 gene has been shown previously to be mutated in at least two WS1 patients. We mapped a PCR product from the PAX3 gene to 2q35 and found it was absent in the deleted chromosome. Thus, our FISH mapping results confirm the conclusions from previous linkage analysis and support the conclusion that mutation of the PAX3 gene can cause Waardenburg sydrome.
The mouse lysyl oxidase gene (Lox) resides on Chromosome 18
Authors: Chang Y.S. , Svinarich D.M. , Yang T.P. , Krawetz S.A.
Published: May 2008

Lysyl oxidase initiates crosslink formation of the connective tissue matrix. This enzyme can also revert the ras phenotype in mouse NIH 3T3-transformed cells. Even though lysyl oxidase may participate in many different biological processes, its chromosomal assignment in the mouse genome remains to be addressed. Southern analysis of a panel of Chinese hamster × mouse somatic cell hybrids was utilized to assign the lysyl oxidase gene (Lox) to mouse Chromosome 18.
Mapping of the KREV1 transformation suppressor gene and its pseudogene (KREV1P) to human chromosome 1p13.3 and 14q24.3, respectively, by fluorescence in situ hybridization
Authors: Takai S. , Nishino N. , Kitayama H. , Ikawa Y. , Noda M.
Published: May 2008

The chromosomal location of the transformation suppressor gene KREV1 and its pseudogene (KREV1P) on R-banded human prometaphase chromosomes was determined by fluorescence in situ hybridization. The KREV1 gene mapped to chromosome 1p13.3, whereas the KREV1P pseudogene mapped to 14q24.3. Our results substantiate the previous mapping data of Rousseau-Merck et al. (1990) and further confine the position of the RAP 1A/KREV1 gene to a narrower region.
Refined physical mapping of chromosome 16-specific low-abundance repetitive DNA sequences
Authors: Stallings R.L. , Whitmore S.A. , Doggett N.A. , Callen D.F.
Published: May 2008

Repetitive DNA sequences have been implicated in the origin of several disease phenotypes, including fragile X syndrome, myotonic dystrophy, and spinal bulbar atrophy. In addition, complex family of chromosome 16-specific low-abundance repetitive (CH16LAR) DNA sequences have been mapped by fluorescence in situ hybridization to regions of chromosome a 16 that undergo breakage/rearrangement in acute nonlymphocytic leukemia (ANLL) cells. It has been hypothesized that these repetitive sequences are causally related to the chromosome rearrangements found in ANLL. Here, we further refine the mapping of CHI 6LAR sequences with respect to the ANLL inversion breakpoints, using a panel of somatic cell hybrids containing 51 different chromosome 16 breakpoints. These studies indicate that CH16LAR sequences at 16p13 are in close proximity to the ANLL short-arm breakpoint region. However, the region containing the highest density of CH16LAR sequences on the long arm appears to be distal to the region where the ANLL long-arm breakpoint has been mapped. These studies further show that CHI 6LAR sequences map in close proximity to FRA16D and FRA16A.
Chromosomal assignments of genes for rat glutathione S-transferase Yb1 (GSTA3) and Yb2 (GSTA4) subunits
Authors: Muramatsu Y. , Yamada T. , Agui T. , Yamada J. , Serikawa T. , Matsumoto K.
Published: May 2008

Chromosomal assignments of genes for rat glutathione S-transferase Yb1 (GSTA3) and Yb2 (GSTA4) subunits were performed by Southern blot analyses of somatic cell hybrid DNAs. Both GSTA3 and GSTA4 were assigned to rat chromosome 2.
Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis
Authors: Heckl-Östreicher B. , Ragg S. , Drechsler M. , Scherthan H. , Royer-Pokora B.
Published: May 2008

We have localized the human CD59 gene encoding a membrane protein that inhibits cell lysis by the membrane-attack complex of the homologous complement system. Using chromosomal in situ suppression hybridization and pulsed-field gel electrophoresis, we mapped this gene to chromosome 11p13, distal to the breakpoint of acute T-cell leukemia and proximal to the locus of the Wilms’ tumor gene on a 30-kb Sacll fragment.
Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies
Authors: Jabs E.W. , Tuck-Muller C.M. , Anhalt G.J. , Earnshaw W. , Wise R.A. , Wigley F.
Published: May 2008

Previous cytogenetic studies of patients with systemic sclerosis have obtained conflicting results regarding the presence of chromosomal anomalies. We studied 38 patients and 15 controls to determine whether these inconsistencies were due to differences in the subgroups of patients who were studied. Because many patients with systemic sclerosis produce autoantibodies to protein antigens that have been implicated in chromosome structure and function, we further hypothesized that the presence of these autoantibodies might correlate with the presence of chromosomal anomalies. Patients were classified into clinical subgroups based on the extent of their disease. Their sera were assayed for autoantibodies to topoisomerase I and centromere proteins (CENP-A, CENP-B, and CENP-C) by immunoblotting. Cytogenetic analyses for aneuploidy and chromosome breaks were performed. Anticentromere antibody positive (ACA+) patients had significantly more aneuploidy than either ACA negative (ACA-) patients or controls (P = 0.041). Although the patient group, when considered as a whole, had significantly greater aneuploidy than the control group (P < 0.005), patients who were ACA- did not have more aneuploidy than the controls had. Patients with Type I disease (sclerodactyly), the majority of whom were ACA+, also had significantly more aneuploidy than did either the controls or patients with Type III (diffuse) disease, most of whom were ACA-(P < 0.005). ACA+ patients also had more chromatid breaks than the controls had (P < 0.05). The correlation between the presence of ACAs and chromosomal aneuploidy suggests that aneuploidy may be the result of nondisjunction secondary to centromeric dysfunction. In support of this hypothesis, the ACA+ patients who had antibodies to CENP-C exhibited more chromosomal aneuploidy than did either anti-CENP-A or anti-CENP-B positive patients (P < 0.048). Unlike CENP-A and CENP-B, which are present at both functional and inactivated centromeres, CENP-C is present at the kineto-chore of functional centromeres.
Co-dominance of radioresistant DNA synthesis in a group of AT-like Chinese hamster cell mutants
Authors: Verhaegh G.W.C.T. , Jaspers N.G.J. , Lohman P.H.M. , Zdzienicka M.Z.
Published: May 2008

The relation of radiosensitivity and radioresistant DNA synthesis (RDS) was studied in the AT-like Chinese hamster cell mutants V-C4, V-E5, and V-G8 of the same complementation group. Proliferating hybrid cell lines obtained after fusion of the AT-like hamster cell mutants with their parental V79 cells showed only very partial complementation of RDS, while radiosensitivity with respect to cell killing was fully complemented in these hybrid cells. Therefore, RDS behaves as a (co-)dominant feature in hybrids of AT-like mutants and wildtype V79 cells, indicating that RDS cannot be used for complementation analysis of X-ray-sensitive Chinese hamster cells. In contrast to the intraspecies hybrids, a full complementation of RDS was observed in interspecies hybrids between the rodent AT-like mutants and human (HeLa) cells, suggesting a species-specific regulation of DNA synthesis. These results indicate that radiosensitivity and RDS are pleiotropic effects of the same afflicted gene.
Complementation analysis in ataxia telangiectasia: fibroblast-lymphoblastoid cell heterokaryon assay by radiation-induced chromosome aberrations
Authors: Chen P. , Kidson C.
Published: May 2008

Using radiation-induced chromosome aberrations as a marker, heterokaryons of ataxia telangiectasia formed between appropriate combinations of lymphoblastoid cell lines (LCLs) and fibroblasts representing four and two different groups, respectively, were analyzed. The results showed that complementation group 2 in the LCL series corresponds to group D in the fibroblast series.
Human connexin43 gene locus, GJA1 sublocalized to band 6q21→q23.2
Authors: Corcos I.A. , Meese E.U. , Loch-Caruso R.
Published: May 2008

Gap junctions permit transfer of small molecules directly between cells. Several laboratories have mapped the human gap junction protein subunit, connexin43 (locus designation, GJA1), to overlapping regions of chromosome 6, localizing GJA1 to 6q14→q24. We have sublocalized human GJA1 to a very small region, 6q21→q23.2, using a human × rodent somatic cell hybrid mapping panel and a rat connexin43 cDNA probe.
High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts
Authors: Simpson P. , Morris T. , Savage J. , Thacker J.
Published: May 2008

We report cytogenetic analysis of X-ray induced mutants of the HPRT gene isolated from a primary human fibroblast line. The mutants were shown previously by molecular analysis to have total or partial HPRT gene deletions. Detailed analysis of the chromosomal region containing HPRT (the cytogenetic band Xq26) identified Xq26 aberrations in five of five total HPRT gene deletions but failed to detect any changes in two of two partial gene deletions. Four microdeletions were verified and quantified by a method termed the band ratio, which compares the distance between bands encompassing Xq26 and an adjacent X-chromosome region in elongated chromosomes. These measurements were supported by the presence or absence of the sub-band Xq26.2. One total HPRT gene deletion was also associated with an X; 11 translocation involving band Xq26. The data strengthen earlier findings on the tolerance of the Xq26 region to large genetic changes (>1 Mb), but also indicate that some mutations are more complex than simple deletion of DNA sequence.
Mapping basigin (BSG), a member of the immunoglobulin superfamily, to 19p13.3
Authors: Kaname T. , Miyauchi T. , Kuwano A. , Matsuda Y. , Muramatsu T. , Kajii T.
Published: May 2008

Basigin is a novel member of the immunoglobulin superfamily ubiquitously expressed in various tissues. We mapped the basigin gene at 19p 13.3, using a 1.6-kb cDNA fragment of the gene as a probe and sequential fluorescence in situ hybridization and G-banding on human metaphase chromosomes.
Use of a subspecies cross for efficient development of a linkage map for a marsupial mammal, the tamar wallaby (Macropus eugenii)
Authors: McKenzie L.M. , Collet C. , Cooper D.W.
Published: May 2008

The tammar wallaby (Macropus eugenii) has a 2n = 16 karyotype with an XX/XY female/male sex dimorphism. Female reproduction can be manipulated to produce up to five offspring per year. We have crossed two genetically distant subspecies of tammars, one from Kangaroo Island in South Australia, the other from Garden Island in Western Australia, to produce fertile F1 offspring of both sexes. Male F1 hybrids were crossed with female Kangaroo Island tammars to produce over 80 phase-known backcross progeny for linkage studies. Here we report detection of two linkage groups derived from these male recombination values. The first consists of Α-lactalbumin and an anonymous tammar cDNA clone, pB72; the second contains the gene for a marsupial-specific milk protein (late lactation protein), the gene for lipoprotein lipase, and an anonymous cDNA clone, pB65. The gene for late lactation protein has previously been assigned to tammar chromosome 3.
cDNA libraries from human tissues and cell lines
Authors: Swaroop A. , Xu J.
Published: May 2008

We report the construction of 34 cDNA libraries from human tissues and cell lines in lambda phage vectors (Charon BS, Λgt11, ΛSHK, or ΛzapII). The cDNA was synthesized from poly A+ RNA, using oligo-dT as a primer, and size-selected before ligation to vector arms. High-complexity cDNA libraries from human tissues and cell lines should be a valuable resource for genome mapping studies and identification of disease genes.
Structure, expression and chromosome assignment of the human catenin (cadherin-associated protein) alpha 1 gene (CTNNA1)
Authors: Furukawa Y. , Nakatsuru S. , Nagafuchi A. , Tsukita S. , Muto T. , Nakamura Y. , Horii A.
Published: May 2008

We have isolated the human α-catenin gene (CTNNAl), which encodes a cadherin-associated protein, and have determined its primary structure and chromosomal localization. The transcript of CTNNAl is 3.4 kb long and consists of 16 coding exons encoding 906 amino acids and at least one 5’ noncoding exon. The 102-kDa predicted protein is the same size as the murine homolog, and the amino acid sequences of the two proteins are 99.2% homologous. Analysis by reverse transcription-PCR revealed that this gene is expressed ubiquitously in normal tissues. It was mapped to chromosome band 5q31 by fluorescent in situ hybridization.
Induction of G-bands on Anguilla anguilla chromosomes by the restriction endonucleases Haelll, HinfI, and MseI
Authors: Viñas A. , Gómez C. , Martínez P. , Sánchez L.
Published: May 2008

Fixed metaphase chromosomes of the eel Anguilla anguilla were treated with the restriction enzymes Haelll, HinfI, and MseI. All three restriction endonucleases are capable of inducing a G-band-like pattern if the incubation time and enzyme concentration are controlled. The results are discussed in relation to the main factors involved in the appearance of serial G-bands. Chromatin organization, rather than DNA composition, seems to account for the interstitial G-band pattern exhibited by these eel chromosomes.
Human α-satellite DNAs are not susceptible to undercondensation after 5-azacytidine treatment
Authors: Fernández J.L , Goyanes V. , López-Femández C. , Gosálvez J.
Published: May 2008

Localization of alphoid human satellite DNAs using fluorescence in situ hybridization (FISH) of metaphase chromosomes following treatment with 5-azacytidine to produce undercondensation showed that human α-satellite DNA is not sensitive to the condensation-inhibition effect of 5-azacytidine. The difference in heterochromatic DNA subsets was particularly evident in the constitutive heterochromatin of chromosomes 1 and 9. Comparison of the results obtained after FISH with those obtained from electron microscopy and G-banding enabled accurate localization of this DNA domain.
PCR probes for chromosome in situ hybridization of large-insert bacterial recombinants
Authors: Kroisel P.M. , loannou P.A. , de Jong P.J.
Published: May 2008

We have developed a procedure for efficient in situ hybridization of bacterial recombinants created with various types of large-insert cloning vectors. Minimal quantities of crude DNA are amplified and labeled during the degenerate-oligonucleotide-primed polymerase chain reaction. The resulting probes generate high-intensity fluorescent hybridization signals on metaphase chromosomes and on interphase nuclei.
Assignment of the gene for human tear prealbumin (LCN1), a member of the lipocalin superfamily, to chromosome 8q24
Authors: Baumgartner M. , Holzfeind P. , Redl B.
Published: May 2008

Tear prealbumin, a major protein of the human tear fluid, is also present in several other human body secretions. Recently it was shown to be a member of the lipocalin superfamily, a class of proteins that function as carriers for small hydrophobic molecules. Using a genomic tear prealbumin probe, we have mapped the gene (LCN1) to human chromosome 8q24 by fluorescent in situ hybridization.
Regional localization of the bovine interleukin-2 (IL2) gene to chromosome 17q22→q23 by in situ hybridization
Authors: Chowdhary B.P. , Hassanane M.S. , Gustavsson I.
Published: May 2008

The interleukin-2 (IL2) gene was localized to the q22→q23 bands of chromosome 17 in cattle using radioactive in situ hybridization. The localization confirms the recent provisional assignment of syntenic group U23 to this bovine chromosome. Increasing evidence for chromosomal banding and gene location homology within the Bovidae suggests that the IL2 gene most likely also maps to chromosome 17 in sheep, goats and buffaloes.