Hf-Nd isotope evidence for a transient dynamic regime in the early terrestrial mantle

Modern basalts have seemingly lost all 'memory' of the primitive Earth's mantle except for an ambiguous isotopic signal observed in some rare gases. Although the Earth is expected to have reached a thermal steady state within several hundred million years of accretion, it is not known how and when the initial chemical fractionations left over from planetary accretion (and perhaps a stage involving a magma ocean) were overshadowed by fractionations imposed by modern-style geodynamics. Because of the lack of samples older than 4 Gyr, this early dynamic regime of the Earth is poorly understood. Here we compare published Hf-Nd isotope data on supracrustals from Isua, Greenland, with similar data on lunar rocks and the SNC (martian) meteorites, and show that, about 3.8 Gyr ago, the geochemical signature of the Archaean mantle was partly inherited from the initial differentiation of the Earth. The observed features seem to indicate that the planet at that time was still losing a substantial amount of primordial heat. The survival of remnants from an early layering in the modern deep mantle may account for some unexplained seismological, thermal and geochemical characteristics of the Earth as observed today.     

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10-20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP). The mutations predominantly affected a domain homologous to RCC1, a guanine nucleotide exchange factor for the small GTPase Ran, although they were present in fewer than the 70-75% of XLRP patients predicted from linkage studies. Mutations in the RP2 locus at Xp11.3 were found in a further 10-20% of XLRP patients, as predicted from linkage studies. Because the mutations in the remainder of the XLRP patients may reside in undiscovered exons of RPGR, we sequenced a 172-kb region containing the entire gene. Analysis of the sequence disclosed a new 3' terminal exon that was mutated in 60% of XLRP patients examined. This exon encodes 567 amino acids, with a repetitive domain rich in glutamic acid residues. The sequence is conserved in the mouse, bovine and Fugu rubripes genes. It is preferentially expressed in mouse and bovine retina, further supporting its importance for retinal function. Our results suggest that mutations in RPGR are the only cause of RP3 type XLRP and account for the disease in over 70% of XLRP patients and an estimated 11% of all retinitis pigmentosa patients.     

Tetraploidy inProtopterus (Dipnoi)

Summary Comparative DNA values obtained by Feulgen cytophotometry for 3 species ofProtopterus, as well as karyotype analysis, show the existence of a diploid-tetraploid relationship within the genusProtopterus.Research supported by the Division of Human Genetics, K. U. Leuven, Belgium, and by the Université Nationale du Zaire, campus Kinshasa, Zaire. The Department of Human Genetics, University of Amsterdam. The Netherlands, provided laboratory facilities for cytophotometric analysis. I thank J. Bylsma, A. Debont, F. Koperdraad and H. Van den Berghe for advice, R. Ruysschaert and G. Warmoes for hospitality and technical assistance and T. Mohsen for the generous gift ofP. annectens from Senegal.     

Karyotype and DNA content ofPhractolaemus ansorgei Blgr. (Teleostei: Gonorynchiformes)

Summary The diploid DNA content ofPhractolaemus ansorgei spinosus (Phractolaemidae) is estimated by Feulgen cytophotometry at 3 pg. The karyotype has 28 chromosomes and 54 chromosome arms; it significantly resembles the karyotype ofChanos chanos (Chanidae).Research supported by the Division of Human Genetics, K. U. Leuven, Belgium. The Zairian ONRD permitted a stay at IRSAC-Mabali. The Department of Human Genetics, University of Amsterdam, Netherlands, provided laboratorium facilities for cytophotometric analysis. I thank J. Bylsma, M. Kibishwa, F. Koperdraad and H. Van den Berghe for advice.     

Karyotypes and nuclear DNA contents of Polypteridae (Osteichthyes)

Summary Calamoichthys calabaricus, Polypterus palmas, P. weeksii, P. delhezi andP. ornatipinnis have the same amount of DNA per erythrocyte nucleus. The karyotype ofP. weeksii has 38 chromosomes and differs from the karyotypes of the other species, all with 36 chromosomes, by a Robertsonian chromosomal rearrangement. The karyotype condition is regarded as derived for vertebrates.Research supported by the Division of Human Genetics, K.U. Leuven, Belgium and the UNAZA, campus Kinshasa, Zaire. The Department of Human Genetics, University of Amsterdam, Netherlands, provided facilities for cytophotometry.     

Karyotype and DNA content of Pharctolaemus ansorgei Blgr. (Teleostei: Gonorynchifomes).

The diploid DNA content of Pharctolaemus ansorgei spinosus (Phractolaemidae) is estimated by Feulgen cytophotometry at 3 pg. The karyotype has 28 chromosomes and 54 chromosome arms; it significantly resembles the karyotype of Chanos chanos (Chanidae).