Werner Schempp

TL;DR: Inactivating mutations on oneSOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal.

TL;DR: The autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) is mapped to 17q24.3–q25.1 by three independent apparently balanced de novo reciprocal translocations.

TL;DR: The somatic and meiotic chromosomes of the South American leptodactylid toads Odontophrynus americanus, Ceratophrys ornata, and C. cranwelli were analysed both with conventional staining and differential banding techniques to interpret structural heterogeneities within the quartets and octets as a “diploidization” of the polyploid karyotypes.

TL;DR: A review of the centromere repositioning is provided, new data on the population genetics of the ENC of the orangutan is added, and for the first time an ENC is described on the X chromosome of squirrel monkeys.

TL;DR: The sequencing of 3.7 Mb of MSY in each of 448 human males at a mean coverage of 51× yields 13,261 high-confidence SNPs, 65.9% of which are previously unreported, and constitutes a robust evolutionary framework for analyzing the history of other classes of mutation.