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Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5). We have positionally cloned a gene that spans the chromosomal breakpoint of two patients with TRPS I and is deleted in five patients with TRPS I and an interstitial deletion. Northern-blot analyses revealed transcripts of 7 and 10.5 kb. TRPS1has seven exons and an ORF of 3,843 bp. The predicted protein sequence has two potential nuclear localization signals and an unusual combination of different zinc-finger motifs, including IKAROS-like and GATA-binding sequences. We identified six different nonsense mutations in ten unrelated patients. Our findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I.

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The dry rot fungus Serpula lacrymans (Basidiomycota) is the most damaging destroyer of wood construction materials in temperate regions. While being a widespread aggressive indoor biodeterioration agent, it is only found in a few natural environments. The geographical source of spread and colonization by this fungus in human environments is thus somewhat of an enigma. Employing genetic markers (amplified fragment length polymorphisms, DNA sequences and microsatellites) on a worldwide sample of specimens, we show that the dry rot fungus is divided into two main lineages; one nonaggressive residing naturally in North America and Asia (var. shastensis), and another aggressive lineage including specimens from all continents, both from natural environments and buildings (var. lacrymans). Our genetic analyses indicate that the two lineages represent well-differentiated cryptic species. Genetic analyses pinpoint mainland Asia as the origin of the aggressive form var. lacrymans. A few aggressive genotypes have migrated worldwide from Asia to Europe, North and South America and Oceania followed by local population expansions. The very low genetic variation in the founder populations indicate that they have established through recent founder events, for example by infected wood materials transported over land or sea. A separate colonization has happened from mainland Asia to Japan. Our data also indicate that independent immigration events have happened to Oceania from different continents followed by admixture.

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Indoor wood-decay fungi cause considerable economical damage. Most of the structural damage to the indoors of buildings in Europe and North America is caused by brown-rot fungi that degrade conifer wood; white-rot fungi, which preferentially attack hardwoods, are less common. This review covers the approximately 80 basidiomycetes that commonly occur in buildings. Emphasis was placed on Serpula lacrymans, which is the most common indoor basidiomycete in central Europe. Meruliporia incrassata, the North American pendant to S. lacrymans, has also received considerable attention. In terms of indoor wood decay, moisture and temperature are the most important influences. Wood samples with a low moisture content can be degraded. High temperatures as an alternative control measure do not kill mycelia, with some species surviving in wood samples in the form of heat-resistant arthrospores at temperatures as high 95°C. For refurbishment and scientific purposes, the identity of the causal species should be known. More recently, several molecular techniques have been used to identify fungi; these results are often conflicting with those obtained by other, earlier applied methods. Sequencing of the internal transcribed spacers (ITS) of the rDNA is currently the best molecular tool. Among the other methods available, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) has also been shown to be able to distinguish closely related sister taxa. For further characterization of indoor basidiomycetes, the complete sequences of the 18S, 28S rDNA and the intergenic spacers with the included 5S rDNA have been acquired for some species. If current projects involving whole funal genome sequencing are not taken into account, Antrodia vaillantii is the first basidiomycete for which the complete rDNA sequence has been deposited. The review closes with fundamentals on the prevention and control of indoor wood decay.

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