Fig 1.
The XIST repressor model for the single active X.
Our model depicts the putative dosage sensitive repressor(s) (yellow), which inactivate XIST, thereby protecting one X chromosome from inactivation in diploid 46,XX, 46,XY and 47,XXX cells, thus -directly choosing the active X (green). The non- blocked X chromosomes are inactivated by XIST transcription, becoming Barr bodies (red). In triploid cells (69,XXX, 69,XXY), more than one X is active because of the extra amount of the putative XIST repressor, contributed by the extra set of autosomes. The Y chromosome is depicted (black).
Table 1.
Genes on Chromosomes 1, showing total copy number variants, duplications and deletions, according to sex (M male, F female).
Genes shown on chromosome 1 are those known to have a role in silencing the inactive X as well as those that could play a role in silencing XIST. The 5’BP is based on GRCh38 when available or from the DECIPHER database (GRCh37). *Genes within previous candidate region [9].
Table 2.
Candidate genes on chromosome 19, showing total variants, duplications and deletions, according to sex (F female, M male).
The 5’BP is based on GRCh38 when available or from the DECIPHER database (GRCh37). These genes are all within the region of interest [9].
Fig 2.
Systematic skewing of posterior gain rate (M:F sex ratio) on chromosome 19 (A) but not chromosome 1 (B). Because the lack of gains in either males or females leads to a zero value in either the nominator or denominator of a male/female gain ratio we calculated a posterior rate, which accurately reflects any observed deviation from the expected equal amount of male/female gains (= 1). The grey box shows previous candidate regions, based on living females with partial trisomies. Note abnormal M:F posterior gain ratio in the candidate region of chromosome 19, but not on chromosome 1.
Fig 3.
Posterior rate (M:F sex ratio) of duplications, deletions and total variants on chromosome 19, at 500 kb intervals throughout the p (A) and q (B) arms of the chromosome from pter to qter. Because the lack of gains in either males or females leads to a zero value in either the nominator or denominator of a male/female gain ratio we calculated a posterior rate, which accurately reflects any observed deviation from the expected equal amount of male/female gains (= 1). Note the excess of males for both total variants and duplications in the domain 4.5–12.5 MB on the short arm (A) as well as a smaller peak from 41.0–41.5 MB on the long arm (B) of chromosome 19.
Table 3.
Analysis of chromosome 19 clusters of zinc finger genes and their distribution.
Not all of the zinc finger genes on the long arm are shown, as their patterns are not remarkable. Also shown are the locations of some candidate genes (in italics) with respect to zinc finger clusters.