Sentences with phrase «hemizygous cnv»

Since MAOA is an X-linked gene [11], hemizygous males from this family effectively represent functional gene knockouts.

Deletion of the gene was not lethal and there was no overt phenotype either in hemizygous males -LRB-- / y) or in homozygous females -LRB-- / --RRB-.

(A) Genotype documentation of - / y hemizygous males and - / - homozygous females; evidence of Slc6a14 deletion in colon and lung tissues from - / y hemizygous males and - / - homozygous females; expression of Slc6a14 in colon (C) and lung (L) but not in mammary gland (M) in wild - type (WT) female mice.

Rescue of hemizygous XpdTTD / KO survival by Xpd † XPCS and Xpd † XP alleles is illustrated by arrows marked A and B, respectively.

(E) Xpd dose - dependent reduction of TFIIH in homozygous XpdTTD / TTD, hemizygous XpdTTD / KO, and compound heterozygous XpdTTD / † XPCS and XpdTTD / † XP cells by comparative immunofluorescence of the p62 subunit of TFIIH.

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

However, homozygous XPDXP (XPDR683W) and hemizygous XPDXPCS (XPDG602D) human cells are known to be highly sensitive to UV [19,25], as are cells from a homozygous viable XpdXPCS / XPCS (XPDG602D / G602D) mouse model (Figure 4A, dotted line)[23].

In accordance with the gene dosage, a further reduction of up to 70 % of the wt level was observed in hemizygous XpdTTD / KO cells.

In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5).

Because embryonic lethality was also fully rescued in XpdTTD / KO hemizygous mice, the XpdTTD allele can be considered as wt and thus dominant to each of the homozygous lethal alleles (XpdKO, Xpd † XPCS, and Xpd † XP) with respect to this particular phenotype (Table 2).

Despite reduced levels of mRNA expression, the homozygous lethal Xpd † XPCS allele ameliorated multiple XpdTTD - associated disease symptoms in compound heterozygous XpdTTD / † XPCS animals including the hallmark brittle hair and cutaneous features fully penetrant in homo - and hemizygous TTD mice (Figure 2A — 2C).