Los genes KRT2, KRT4 y KRT79 se encuentran en el scaffold 36 y estan alineados en tandem con los genes KRT80, KRT7, KRT81, KRT83, KRT82, KRT6a, KRT5, KRT71, KRT1, KRT3, KRT8
y KRT18 (Fig.
Family A B Number 1 Number 2 ATP8B1 p.Asn45Thr, 0|1 in patient and father Number 3 ATP8B1p.Ile349Thr, 0|1 in patient and mother Number 4 Number 5 AKR1C1, p.Arg170His 0|1 in patient RXRA, p.Pro22Leu 0|1 in patient and mother Number 6 ABCB11 p.Ser25Ter 0|1 in patient and father Family C D Number 1 CYP2C19, c.681G>A, CYP2C9 p.Ile359Leu, NAT2, p.Ile114Thr NAT2, p.Arg197Gln Number 2 KRT8
, p.Ile91Val Number 3 Number 4 Number 5 Number 6 ABCC4 p.Lys304Asn PEMT p.Arg226Trp 0|1 in patient and mother TABLE 4: Variant characteristics, including global minor allele frequency (GMAF) in 1000 genomes project, European American minor allele frequency (EA MAF) in NHLBI exome sequencing project (ESP), and deleteriousness prediction according to SIFT and PolyPhen are provided.
The isolated trophoblastic cells had normal shape and superior trophoblast quality, indicated by increased expression of trophoblast markers IFNT, KRT8, and CDX2 compared to cells isolated on MEFs.
Caption: Figure 3: (a) RT-PCR analysis using primers specific for interferon tau (IFNT), keratin-8 (KRT8), and homeobox protein (CDX2) expression in trophectoderm colonies.
Also overexpressed, though not differentially between the mouse strains, was the Krt8
(Keratin 8) gene (Figure 3C).