A four-year-old girl, the proband along with her mother in her subsequent pregnancy was referred to the genetic clinic for evaluation of global developmental delay with a normal karyotype study. On evaluation, dysmorphic features prompted to repeat the karyotype assessment. An unbalanced pericentric inversion of chromosome 6 in the index child was noticed. This was followed by identification of...

Mammalian development begins with fertilization of an oocyte by the sperm followed by genome-wide epigenetic reprogramming. This involves de novo establishment of chromatin domains, including the formation of pericentric heterochromatin. We dissected the spatiotemporal kinetics of the first acquisition of heterochromatic signatures of pericentromeric chromatin and found that the heterochromatic...

Humidity inversions have a high potential importance in the Arctic climate system, especially for cloud formation and maintenance, in wide spatial and temporal scales. Here we investigate the climatology and characteristics of humidity inversions in the Arctic, including their spatial and temporal variability, sensitivity to the methodology applied and differences from the Antarctic humidity in...

Using mutagens on sperm and spermatids we have produced nineteen chromosomal inversions in mice. The levels of radiation and chemical mutagen we used induced inversions in about one per cent of the animals screened. Nine inversions have been transmitted through successive generations, and the particular frequency of first meiotic anaphase bridges manifested by each inversion remained constant. ...

We introduce and study new refinements of inversion statistics for permutations, such as k-step inversions, (the number of inversions with fixed position differences) and non-inversion sums (the sum of the differences of positions of the non-inversions of a permutation). We also provide a distribution function for non-inversion sums, a distribution function for k-step inversions that relates to...

Alignment of sequences is widely used for biological sequence comparisons, and only biological events like mutations, insertions and deletions are considered. Other biological events like inversions are not automatically detected by the usual alignment algorithms, thus some alternative approaches have been tried in order to include inversions or other kind of rearrangements. Despite many import...

Aedes aegypti, the primary vector of dengue, yellow fever and Zika flaviviruses, consists of at least two subspecies. Aedes aegypti (Aaa) is light in color, has pale scales on the first abdominal tergite, oviposits in artificial containers, and preferentially feeds on humans. Aedes aegypti formosus (Aaf), has a dark cuticle, is restricted to sub-Saharan Africa, has no pale scales on the first a...

A dynamic programming algorithm to find all optimal alignments of DNA subsequences is described. The alignments use not only substitutions, insertions and deletions of nucleotides but also inversions (reversed complements) of substrings of the sequences. The inversion alignments themselves contain substitutions, insertions and deletions of nucleotides. We study the problem of alignment with non...

85 Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome Tomoko Mitsuhashi, Katsuhiko Warita, Teruo Sugawara, Yoshiaki Tabuchi, Ichiro Takasaki, Takashi Kondo, Fumio Hayashi, Zhi-Yu Wang, Yoshiki Matsumoto, Takanori Miki, Yoshiki Takeuchi, Yasuhiko Ebina, Hideto Yamada, Noriaki Sakuragi, Toshifumi Yokoyama, Takashi Nanmori, Hiroshi Kitagawa, Je...

We propose a new method for the comparative analysis of two long DNA sequences. Our method is the first that takes into account biological events like local inversions when searching for highly conserved regions. Our method introduces new ideas to the usual concept of alignments, that detects events like insertions, deletions and mutations but not inversions. It proposes a weighted bipartite-ma...