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Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. 总被引:11,自引:8,他引:3
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I T Thomas J L Frias E S Cantu C Z Lafer D B Flannery J G Graham Jr 《American journal of human genetics》1989,45(2):193-205
We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnormal pigmentation followed Blaschko lines. The literature contains at least 36 similar examples of an association between pigmentary anomalies and chromosomal mosaicism, as well as five examples of an association with chimerism. The pigmentary anomalies are pleomorphic, and the chromosomal anomalies involve autosomes and sex chromosomes. The pigmentation patterns are reminiscent of the archetypal paradigm seen in allophenic mice and demonstrate the clonal origin of melanoblasts from neural crest precursors. Patients with anomalous skin pigmentation, particularly when it follows a pattern of Blaschko lines, should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. 相似文献
3.
To evaluate whether the median eminence (ME) is a site of action of CRF (corticotropin releasing factor) on GH secretion and
to determine the possible role of estradiol and progesterone in modifying theses secretion, we injected CRF (0.25, 0.75, 1,
and 1.5 nmol of peptide dissolved in 1 μl of water) directly into the ME in three experimental groups of rats: Long-term ovariectomized
(OVX); OVX primed by estradiol (OVX±E) and OVX primed by estradiol plus progesterone (OVX±EP). Blood was collected to determine
GH (30, 60, 90, and 120 min postinjection) Serum T3, T4, and glucose levels were measured in OVX±E rats 30 min postinjection. CRF at all doses studied significantly decreased serum
GH levels in the three experimental groups. Serum T3, T4, and glucose levels were unchanged after CRF administration. The results suggest that: CRF inhibits “per se” GH secretion,
at least in part, by a central action in the ME. The inhibitory effect of CRF on GH is independent of the estrogen/progesterone
status of the animal. CRF at ME levels may participate in a variety of stress-related responses, including growth inhibition,
through GH suppression. 相似文献
4.
A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation 11p;16q is described. Clinical findings are compared with similar case reports from the literature. 相似文献
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Frias J; Bakhsh A; Jones D; Arthur A; Vidal-Valverde C; Rhodes M; Hedley C 《Journal of experimental botany》1999,50(333):469-476
Two lentil (Lens culinaris) cultivars, Syrian Local
Large (SLL) and PANT-L-406 (PL), have been used to study the genetics of
the raffinose family of oligosaccharides (RFO) and a related compound,
ciceritol, which is a galactosyl cyclitol. The RFO and ciceritol are the
major soluble -galactosides in lentil
seeds. Crosses were made between the two lentil lines and the patterns of
inheritance for the total -galactoside
content and for individual RFO compounds (raffinose, stachyose, verbascose)
and ciceritol were determined in the embryos and seed coats from single
seeds of the reciprocal F1s, the F2s and ten F3 families. The inheritance
patterns for each of the -galactosides were complex and much of
this complexity was attributed to an interaction between the embryo and its
surrounding testa. A clear-cut segregation pattern was observed for
verbascose. This was the result of PL embryos having very low, or no,
verbascose. The F2 embryos had a segregation ratio of 3 high to 1 low level
for this compound, suggesting that within this cross a low verbascose
content was determined by a single recessive gene. There was good evidence
from the F2 and F3 generations of a negative correlation between low levels
of verbascose and high levels of ciceritol, which suggests a metabolic link
between the RFO pathway and the pathway leading to ciceritol. The data are
discussed in terms of defining strategies for genetically manipulating
the-galactoside composition in lentil seeds, such that their
negative effects on nutrition may be overcome without reducing
significantly their positive role in abiotic stress
resistance. 相似文献
10.
OCTÁVIO MATEUS JESPER MILÀN 《Lethaia: An International Journal of Palaeontology and Stratigraphy》2010,43(2):245-257
Mateus, O. & Milàn, J. 2009: A diverse Upper Jurassic dinosaur ichnofauna from central‐west Portugal. Lethaia, Vol. 43, pp. 245–257. A newly discovered dinosaur track‐assemblage from the Upper Jurassic Lourinhã Formation (Lusitanian Basin, central‐west Portugal), comprises medium‐ to large‐sized sauropod tracks with well‐preserved impressions of soft tissue anatomy, stegosaur tracks and tracks from medium‐ to large‐sized theropods. The 400‐m‐thick Lourinhã Formation consists of mostly aluvial sediments, deposited during the early rifting of the Atlantic Ocean in the Kimmeridgian and Tithonian. The stratigraphic succession shows several shifts between flood‐plain mud and fluvial sands that favour preservation and fossilization of tracks. The studied track‐assemblage is found preserved as natural casts on the underside of a thin bivalve‐rich carbonate bed near the Tithonian–Kimmeridgian boundary. The diversity of the tracks from the new track assemblage is compared with similar faunas from the Upper Jurassic of Asturias, Spain and the Middle Jurassic Yorkshire Coast of England. The Portuguese record of Upper Jurassic dinosaur body fossils show close similarity to the track fauna from the Lourinhã Formation. □Dinosaur tracks, Lusitanian Basin, Portugal, skin impressions, Upper Jurassic. 相似文献