Homozygosity for the TACR3 His148Leu mutation leads to failure of sexual maturation in humans, whereas signaling by the mutant receptor in vitro in response to either NKB or senktide is severely impaired. These observations further strengthen the link between NKB, the NKB receptor, and regulation of human reproductive function.

Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. Here we identify chondroitin synthase 1 (CHSY1) as a potential mediator of BMP effects. We show that loss of human CHSY1 function causes autosomal-recessive Temtamy preaxial brachydactyly syndrome (TPBS), mainly characterized by limb malformations, short stature, and hearing loss. After mapping the TPBS locus to chromosome 15q26-qterm, we identified causative mutations in five consanguineous TPBS families. In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS. In the inner ears of zebrafish larvae, chsy1 is expressed similarly to the BMP inhibitor dan and in a complementary fashion to bmp2b. Furthermore, unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation, indicating that Bmp signaling affects inner-ear development by repressing chsy1. In addition, we obtained strikingly similar zebrafish phenotypes after chsy1 overexpression, which might explain why, in humans, brachydactyly can be caused by mutations leading either to loss or to gain of BMP signaling.

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AimTo investigate the distribution of 17 Y-short tandem repeat (STR) loci in the population of the Cukurova region of Turkey.MethodsIn the period between 2009 and 2010, we investigated the distribution of 17 Y-STRs in a sample of 249 unrelated healthy men from the Cukurova region of Turkey. Genomic DNA was extracted with InstaGene matrix and Y-STRs were determined using the AmpFISTR Yfiler PCR amplification kit. Gene and haplotype diversity values were estimated using the Arlequin software. To compare our data to other populations, population pairwise genetic distances and associated probability values were calculated using the Y Chromosome Haplotype Reference Database Web site software.ResultsAt 17 Y-STR loci we detected 148 alleles. The lowest gene diversity in this region was 0.51 for DYS391 and the highest 0.95 for DYS385a/b. Haplotype diversity was 0.9997 ± 0.0004. We compared our data with haplotype data of other Turkish populations and no significant differences were found, except with Ankara population (Φst = 0.025, P = 0.018). Comparisons were also made with the neighboring populations using analysis of molecular variance of the Y-STR loci genetic structure and our population was nearest to Lenkoran-Azerbaijani (Φst = 0.012, P = 0.068) and Iranian Ahvaz population (Φst = 0.007, P = 0.173), followed by Greek (Φst = 0.026, P = 0.000) and Russian (Φst = 0.048, P = 0.000) population. Other countries like Portugal, Spain, Italy, Egypt, Israel (Palestinian Authority Area), and Taiwan showed a high genetic distance from our population.ConclusionOur study showed that Y-STR polymorphisms were a powerful discrimination tool for routine forensic applications and could be used in genealogical investigations.

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Short tandem repeats (STR) are reliable markers used for forensic identification and paternity testing. In some cases, histological paraffin blocks containing malignant cells can be used for STR typing in identification and paternity. DNA profiling and result interpretation with these samples often becomes a challenging job. The malignant tissues may show preferential amplification, loss of heterozygosity, and microsatellite instability.Due to the suspected paternity case, two paraffin blocks were sent for DNA analysis by Court of Justice. Pathology report of the paraffin blocks have shown that they contain lung cancer tissues taken with bronchoscopy. After extracting DNA with silica based method from the samples taken from different parts of these two blocks, 21 autosomal STR loci and 17 gonosomal STR loci were studied.When we have compared the STR profiles of son and his alleged father, Y-chromosomal STR loci matched fully. But for 2 of the 21 autosomal STR loci were found mismatches in father-son comparing. These two mismatched loci have been homozygous in alleged father. Moreover, 10 of 21 autosomal loci have shown homozygosity, and at one locus D16S539 has three alleles. While increased homozygosity in FFPE sample of alleged father has increased the paternity index, mismatched loci have lessened it in our model with mutations but without dropout.These results suggest that great care and proper statistical model should be taken in the evaluation of the DNA typing results obtained from clinical cancerous specimens, in particular when no other reference samples containing normal tissue are available.