Human fossils from the endemic island fauna of Sardinia

Spoor, C. F.; Sondaar, P. Y.

doi:10.1016/s0047-2484(86)80019-7

Cited by 33 publications

(16 citation statements)

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“…3 They stem from various populations of the western and eastern basin of the Mediterranean that settled on the island 15 000 to 10 000 years BC. 4 Although over the centuries Sardinians had contacts with several foreign popu-lations (Phoenicians, Carthaginians, Romans, Vandals, Byzantines, the Genoese, the Spanish, and the Piedmontese), with the possible exception of the Romans, these foreign populations seem to have made little genetic contribution to the Sardinian genetic background. 3 Geographic isolation, inbreeding, genetic drift, and probably the selection induced by specific environmental factors (eg, the endemic malaria) have contributed to the genetic diversification of Sardinians from mainland Italians and other white populations.…”

mentioning

confidence: 99%

Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

Deiana

Garuti

Pes

et al. 2000

ATVB

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Abstract-One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the ␣-globin gene (␣-thalassemia trait) and that 6% to 17% are ␤-thalassemia carriers. In this population, a single mutation of ␤-globin gene (Q39X, ␤ 0 39) accounts for Ͼ95% of ␤-thalassemia cases. Because previous studies have shown that Sardinian ␤-thalassemia carriers have lower total and low density lipoprotein (LDL) cholesterol than noncarriers, we wondered whether this LDL-lowering effect of the ␤-thalassemia trait was also present in subjects with familial hypercholesterolemia (FH). In a group of 63 Sardinian patients with the clinical diagnosis of FH, we identified 21 unrelated probands carrying 7 different mutations of the LDL receptor gene, 2 already known (313ϩ1 gϾa and C95R) and 5 not previously reported (D118N, C255W, A378T, T413R, and Fs572). The 313ϩ1 gϾa and Fs572 mutations were found in several families. In cluster Fs572, the plasma LDL cholesterol level was 5.76Ϯ1.08 mmol/L in subjects with ␤ 0 -thalassemia trait and 8.25Ϯ1.66 mmol/L in subjects without this trait (PϽ0.001). This LDL-lowering effect was confirmed in an FH heterozygote of the same cluster who had ␤ 0 -thalassemia major and whose LDL cholesterol level was below the 50th percentile of the distribution in the normal Sardinian population. The hypocholesterolemic effect of ␤ 0 -thalassemia trait emerged also when we pooled the data from all FH subjects with and without ␤ 0 -thalassemia trait, regardless of the type of mutation in the LDL receptor gene. The LDL-lowering effect of ␤ 0 -thalassemia may be related to (1) the mild erythroid hyperplasia, which would increase the LDL removal by the bone marrow, and (2) the chronic activation of the monocyte-macrophage system, causing an increased secretion of some cytokines (interleukin-1, interleukin-6, and tumor necrosis factor-␣) known to affect the hepatic secretion and the receptor-mediated removal of apolipoprotein B-containing lipoproteins. The observation that our FH subjects with ␤ 0 -thalassemia trait (compared with noncarriers) have an increase of blood reticulocytes (40%) and plasma levels of interleukin-6 (ϩ60%) supports these hypotheses. The lifelong LDL-lowering effect of ␤ 0 -thalassemia trait might slow the development and progression of coronary atherosclerosis in FH.

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mentioning

confidence: 99%

Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

Deiana

Garuti

Pes

et al. 2000

ATVB

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“…An explanation in terms of local evolution featuring a trend toward gracilisation/reduction, as has been observed in other parts of the world: Europe (Frayer, 1977;Spoor & Sondaar, 1986, Africa (Carlson & Van Gerven, 1979;Rightmire, 1984;Armelagos and others, 1984;Calcango, 1986) and Australia (Thorne & Wilson, 1977;Brown, 1987Brown, , 1989Brown, , 1992a, may be just as satisfactory (Hooijer, 1950(Hooijer, , 1952Bulbeck, 1981Bulbeck, , 1982Brace & Vitzthum, 1984;Turner, 1987). For instance, a gracilising lineage could be envisioned from Mesolithic Wajak, via Sampung and Neolithic Hoekgrot, to the present day Javanese (Storm, 1995).…”

Section: Recent Human Cranial Variabilitymentioning

confidence: 83%

The Evolutionary History of Humans in Australasia from an Environmental Perspective.

Storm¹

2000

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“…There are some interesting differences between these fossils and Homo sapiens from the mainland. The most striking features are the extremely broad molars and the small incisors, a peculiar combination unknown in Homo sapiens [4]. An aberrant human ulna was found in hall 1.…”

Section: Excavations 1983-1986mentioning

confidence: 96%

Indications of pleistocene man on Sardinia

Hofmeijer

Sondaar

Alderliesten

et al. 1987

Nuclear Instruments and Methods in Physics Research Section B:

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Human fossils found in a Pre-Neolithic cave deposit (Corbeddu cave, Sardinia) represent the first human remains associated with an endemic impoverished island fauna. Radiocarbon dating by AMS in Utrecht provided the chronological framework of the cave sediments for better understanding of the time-related human activities. The aberrant morphology of the human fossils and the unique character of worked deer bones discovered, suggest the development of an endemic Pleistocene human culture, adapted to the restricted island conditions and the hunting of ochotonids and deer. IntruduclionIn 1982 excavations were started in Corbeddu cave on Sardinia in search of an explanation for the aberrant Pleistocene fauna of this island. In spite of the fact that the presence of only a few endemic taxa do indicate island conditions, the deer Megaceros cazioti did not become small and did not evolve short legs, as is normally observed in deer populations on islands [l]. Also the presence of a canid Cynotherium sardous, although small, is not in agreement with the absence of large carnivores in typical island faunas. Excavation 1982Excavation in hall 2 of the cave revealed three different layers, as is shown in fig. 1. Based on the archaeological material from layer 1, the lower part of this layer was estimated to represent the Lower-Neolithic [2]. The boundary between layers 1 and 2 is very sharp. Below this boundary the Pleistocene island fauna with the ochotonid Prolagus sardus, the deer Megaceros cazioti and the canid Cynotherium sardous was found in an excellent state of preservation. Very striking is the taphonomy in layer 3 in which fossils of M. cazioti were found which were scratched, grooved and polished. Together with a remarkable positioning of some bones with respect to each other, it suggests human activity [2]. This was a surprising discovery because the first human habitation on the Mediterranean islands was always considered to be represented by the Neolithic [3]. As a large predator the Sardinian Pleistocene man could very well be responsible for the fact that no short-legged dwarf-deer evolved.0168-583X/87/$03.50 0 Elsevier Science Publishers B.V. (North-Holland Physics Publishing Division) Excavations 1983-1986The aim of the following systematic excavations was to collect more information about this possible Pleistocene man and his environment. In layer 2 a human temporal bone and a maxilla were found in the same level. They represent the first human remains found in association with an endemic Pleistocene island fauna. There are some interesting differences between these fossils and Homo sapiens from the mainland. The most striking features are the extremely broad molars and the small incisors, a peculiar combination unknown in Homo sapiens [4]. An aberrant human ulna was found in hall 1.In the top of layer 3 bones of a single skeleton of Cynotherium sardous were found spread over the entire excavation pit, which indicate a level inside the unstratified homogeneous clay. More than 5000 fossils of M. cazioti wer...

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Human fossils from the endemic island fauna of Sardinia

Cited by 33 publications

References 9 publications

Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

The Evolutionary History of Humans in Australasia from an Environmental Perspective.

Indications of pleistocene man on Sardinia

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Human fossils from the endemic island fauna of Sardinia

Cited by 33 publications

References 9 publications

Influence of β0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

Influence of β0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

The Evolutionary History of Humans in Australasia from an Environmental Perspective.

Indications of pleistocene man on Sardinia

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Product

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Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia

Influence of β⁰-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia