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Z. Kato Seiji Fukuda Shunji Tomatsu Hugo Vega Teruo Yasunaga Atsushi Yamagishi Naoto Yamada A. Valencia Luis Alejandro Barrera Kazuko Sukegawa Tadao Orii Naomi Kondo 《Human genetics》1997,101(1):97-101
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate
sulfatase (GALNS). In previous studies, we have found two common mutations in Caucasians and Japanese, respectively. To characterize
the mutational spectrum in various ethnic groups, mutations in the GALNS gene in Colombian MPS IVA patients were investigated,
and genetic backgrounds were extensively analyzed to identify racial origin, based on mitochondrial DNA (mtDNA) lineages.
Three novel missense mutations never identified previously in other populations and found in 16 out of 19 Colombian MPS IVA
unrelated alleles account for 84.2% of the alleles in this study. The G301C and S162F mutations account for 68.4% and 10.5%
of mutations, respectively, whereas the remaining F69V is limited to a single allele. The skewed prevalence of G301C in only
Colombian patients and haplotype analysis by restriction fragment length polymorphisms in the GALNS gene suggest that G301C
originated from a common ancestor. Investigation of the genetic background by means of mtDNA lineages indicate that all our
patients are probably of native American descent.
Received: 2 January 1997 / Accepted: 10 June 1997 相似文献
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Del Pozo Alejandro; Ovalle Carlos; Aronson James; Avendano Julia 《Annals of botany》2000,85(6):809-814
The phenological development of nine Chilean accessions of Medicagopolymorpha, collected along a northsouth aridity gradient,and of two commercial cultivars of the same species, were comparedin 12 sequential outdoor sowings at Cauquenes (35°58'S,72°17'W, elev. 177 m), in the sub-humid Mediterranean climatezone of Chile. A glasshouse experiment was also conducted toevaluate the effect of photoperiod on phenophase timing. Therewas a clear gradient in precocity among the Chilean accessionsin both experiments: accessions MPO-9-88 and MPO-7-88, fromthe arid zone, were the earliest-flowering accessions, whereasMPO-36-88 from the humid Mediterranean zone was the latest.Both experiments revealed significant variation among the Chileanaccessions in the response of flowering time to variation inphotoperiod regime. Differences in days to flowering betweenthe least- (8 h) and the most- (16 h) inductive photoperiodswere lower in precocious accessions from arid and semi-aridzones, than in late-flowering accessions from more humid zones.Rate of progress to flowering, defined as the inverse of timefrom emergence to first flower appearance (1/ f), was relatedto mean diurnal temperature, or to both mean diurnal temperatureand mean photoperiod. In two early-flowering accessions fromthe arid zone, and in the Australian cultivar CircleValley, 1/ f was affected significantly (P < 0.05)by both temperature and photoperiod. In the remaining accessions,no significant responses to temperatures were detected; 1/ fwas influenced significantly by photoperiod only. Copyright2000 Annals of Botany Company Annual medic, aridity gradient, Medicago polymorpha, flowering time, rate of development 相似文献
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Betharia Swati Rondόn-Ortiz Alejandro N. Brown Dennis A. 《Neurochemical research》2019,44(8):1878-1892
Neurochemical Research - Parkinson’s disease (PD) is a prevalent, progressive, neurodegenerative disorder with no known cure. Oxidative stress has been found to play a significant role in its... 相似文献
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For wild primates, demography studies are increasingly recognized as necessary for assessing the viability of vulnerable populations experiencing rapid environmental change. In particular, anthropogenic changes such as habitat loss and fragmentation can cause ecological and behavioral changes in small, isolated populations, which may, over time, alter population density and demographic structure (age/sex classes and group composition) in fragment populations relative to continuous forest populations. We compared our study population of Endangered black howler monkeys (Alouatta pigra) in 34 forest fragments around Palenque National Park (PNP), Mexico (62 groups, 407 individuals), to the adjacent population in PNP, protected primary forest (21 groups, 134 individuals), and to previous research on black howlers in fragments in our study area (18 groups, 115 individuals). We used χ2 and Mann–Whitney U tests to address the questions: (a) what is the current black howler demographic population structure in unprotected forest fragments around PNP? (b) How does it compare to PNP's stable, continuous population? (c) How has it changed over time? Compared to the PNP population, the fragment populations showed higher density, a significantly lower proportion of multimale groups, and significantly fewer adult males per group. The population's age/sex structure in the fragmented landscape has been stable over the last 17 years, but differed in a higher proportion of multifemale groups, higher density, and higher patch occupancy in the present. In the context of conservation, some of our results may be positive as they indicate possible population growth over time. However, long-term scarcity of adult males in fragments and associated effects on population demographic structure might be cause for concern, in that it may affect gene flow and genetic diversity. The scarcity of adult males might stem from males experiencing increased mortality while dispersing in the fragmented landscape, whereas females might be becoming more philopatric in fragments. 相似文献
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Eira Bermúdez-Cuamatzin Alejandro A. Ríos-Chelén Diego Gil Constantino Macías Garcia 《Biology letters》2011,7(1):36-38
Research has shown that bird songs are modified in different ways to deal with urban noise and promote signal transmission through noisy environments. Urban noise is composed of low frequencies, thus the observation that songs have a higher minimum frequency in noisy places suggests this is a way of avoiding noise masking. Most studies are correlative and there is as yet little experimental evidence that this is a short-term mechanism owing to individual plasticity. Here we experimentally test if house finches (Carpodacus mexicanus) can modulate the minimum frequency of their songs in response to different noise levels. We exposed singing males to three continuous treatments: low–high–low noise levels. We found a significant increase in minimum frequency from low to high and a decrement from high to low treatments. We also found that this was mostly achieved by modifying the frequency of the same low-frequency syllable types used in the different treatments. When different low-frequency syllables were used, those sung during the noisy condition were longer than the ones sang during the quiet condition. We conclude that house finches modify their songs in several ways in response to urban noise, thus providing evidence of a short-term acoustic adaptation. 相似文献
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