The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.

The thin limbs of the loops of Henle in the mouse kidney have been investigated by conventional electron microscopy. Resulting from light microscopic investigations, a distinction in the epithelia of short and long loops can be demonstrated. Ultrastructurally, the thin limbs (descending) of short loops are composed of a uniformly thin and simple epithelium. In contrast, long loops (thin descending and ascending) are composed of three different epithelial types which are representative of a distinctly more complex epithelial system. Two epithelial types were observed in the thin descending limbs of long loops and the third type was observed in the ascending thin limbs. Based upon these findings it is suggested that the thin descending limbs of short and long loops of Henle in the mouse kidney cannot perform the same functions in the renal concentrating mechanism.

Long nephrons are derived from juxtamedullary glomeruli. In their descent through the outer medulla toward the inner medulla, the thin descending limbs (TDLs) of long loops of H m l e are consistently excluded from the vascular bundles and occupy the interbundle region. The outer medullary segment of long TDLs (Type IZ epithelium) is elaborately developed with numerous cellular interdigitations, microvilli, and a cytoplasm well equipped with numerous organelles.The inner medullary segment of these long TDLs is characterized by yet another epithelium that is markedly reduced from its Type II predecessor and is designated a s Type III epithelium. I t is a very low, flattened epithelium with few cytoplasmic details. In a cro:ss section of the inner medullary TDL, the Type III

Renal physiological and morphological adjustments to a reduced protein diet were studied in young Munich-Wistar rats. Two groups of animals were used for the correlative physiological-morphological studies: normal protein (NP, 24% dietary protein) rats and reduced protein (LP, 8% dietary protein) rats. Both groups were fed their respective diets for 4-5 wk and had free access to drinking water. Physiological measurements of GFR and urea clearance were made on five animals from each group. These data showed that the changes in renal function specifically and almost exclusively affected the handling of urea. There was no difference in GFR between the NP and LP rats. Urea clearance was substantially reduced in LP rats. Morphological analyses were made on perfusion-fixed kidneys of five animals from each group. Selected slices were examined and photographed by light and electron microscopy. These data showed no difference in size and number of elements within the vascular bundles but showed significantly smaller lumina of the thin limbs of the short-looped nephrons and a significant thinning of the wall of the thin descending limbs of the long-looped nephrons. These morphological changes may in part be responsible for the observed physiological adjustments to a reduced protein diet. An additional group of rats (6 NP and 5 LP, all dehydrated) were analyzed for distribution of solutes within the inner medulla. The data showed that the concentration of urea, but not that of Na+, was reduced at the papillary tip in LP rats.

Georgia 30912 (J. M.B.) KEY WORDSTechnique, SEM, Histology, Polyester wax ABSTRACT Steedman's polyester wax mixture is a good, general-purpose histological embedding medium that is suitable and convenient to use when it is desirable to combine light microscopy with scanning electron microscopy (SEMI. A range of properties recommend this wax: it has a low melting temperature (37"C), is readily soluble in most dehydrating agents, results in negligible tissue shrinkage, preserves tissue antigenicity, and may even be used as a solvent for fixative agents. We prepare and embed tissues in polyester for light microscopy much as they would be for paraffin wax. For SEM, the block surface is micro-or ultraplaned, utilizing, respectively, a standard rotary microtome with razor blade knives or an ultramicrotome with glass knives. The block is de-waxed in absolute alcohol and then taken to critical point drying. Similarly, sections mounted on coverslips or glass slides may be brought to the SEM after removing the wax. This enables one to bring to the SEM relatively large block faces or sections with good control over orientation. We find the results to be superior to similar procedures employing paraffin. We believe it to be more versatile and equivalent or superior to a variety of other techniques designed to gain access to the interior of tissues with SEM.