Disease relevance of Homozygote

• Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to suicide attempts or psychiatric hospitalizations [1].
• The allelic mouse mutations inversus viscerum (iv) and legless (lgl) produce LR inversion, or situs inversus, in half of live-born homozygotes [2].
• Lethal yellow (Ay) is a mutation at the mouse agouti (a) locus that is associated with an all-yellow coat color, obesity, diabetes, tumors in heterozygotes, and preimplantation embryonic lethality in homozygotes [3].
• To determine vasopressin (VP)-potentiating effect of chlorpropamide (CPMD), we studied the effect of CPMD in vivo and in vitro in kidneys and in specific tubule segments of rats with hypothalamic diabetes insipidus, homozygotes of the Brattleboro strain (DI rats) [4].
• CF homozygote MNC also generated more activity than MNC from patient controls with chronic pulmonary disease [5].

Psychiatry related information on Homozygote

• The epsilon4 homozygotes had significantly reduced glucose metabolism in the same brain regions as patients with Alzheimer's dementia; the largest reduction was in the posterior cingulate cortex [6].
• Although the involvement of such beta-rich oligomers in prion pathogenesis is speculative, the misfolding behavior could, in part, explain the higher susceptibility of individuals that are methionine homozygote to both sporadic and variant Creutzfeldt-Jakob disease [7].
• The daily rhythm associated with the maternal behavior of crouching had a strong diurnal peak and two weak nocturnal peaks in wild-type dams, whereas homozygotes (Clock/Clock) exhibited no significant peaks in activity [8].
• In Alzheimer disease, hallucinations and psychosis have been linked to increased representations of B2/B2 homozyogotes for the dopamine receptor gene DRD1 and 1/1 or 2/2 homozygotes for DRD3 [9].
• Among 18 male subjects, skeletal muscle UCP3 mRNA expression was significantly higher in the C/T & T/T group compared to the C/C homozygotes (P<0.02) [10].

High impact information on Homozygote

• Expression of Frem2 in adult kidneys correlated with cyst formation in my homozygotes, indicating that the gene is required for maintaining the differentiated state of renal epithelia [11].
• Although screening has been proposed, the proportion of homozygotes with conditions related to hemochromatosis is uncertain [12].
• Inner ear development in Eya1 homozygotes arrests at the otic vesicle stage and all components of the inner ear and specific cranial sensory ganglia fail to form [13].
• Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma [14].
• Remarkably, splotch/Myf-5 double homozygotes have a dramatic phenotype not seen in the individual mutants: body muscles are absent [15].

Chemical compound and disease context of Homozygote

• apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes [16].
• Effect of sera from cystic fibrosis homozygotes and heterozygotes on glucose metabolism in Vero cells [17].
• Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A [18].
• Oral administration of a proton pump inhibitor, omeprazole, which induced hypertrophy of the gastric mucosa with hypergastrinemia in wild-type littermates, did not eliminate the gastric atrophy of the homozygotes [19].
• Although in Gilbert's syndrome (GS), bilirubin glucuronidation is impaired due to an extra TA in the TATA box of the promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 (UGT1A1), many GS homozygotes lack unconjugated hyperbilirubinemia [20].

Biological context of Homozygote

• The cytosolic and nuclear Ah receptors were studied in the liver from inbred C57BL/6N (Ahb/Ahb) mice, inbred DBA/2N (Ahd/Ahd) mice and heterozygotes (Ahb/Ahd) and homozygotes (Ahd/Ahd) derived from the (C57BL/6N X DBA/2N)F1 X DBA/2N backcross [21].
• Normal distribution of CFTR mRNA was found in CF tissues while expression of CFTR protein was genotype specific, with delta F508 homozygotes demonstrating no detectable protein and compound heterozygotes expressing decreased levels of normally distributed protein [22].
• This phenotype is thought to result from the loss of a positive transacting factor, denoted alf, in deletion homozygotes [23].
• A null c-myc mutation causes lethality before 10.5 days of gestation in homozygotes and reduced fertility in heterozygous female mice [24].
• In the foot plates of the mutant homozygotes, both Bmp2 and Bmp7 expression and apoptotic interdigital cell death are reduced [25].

Anatomical context of Homozygote

• Using gene targeting techniques, mice that have been generated with two germ-line p53 null alleles (homozygotes) develop normally but are highly susceptible to early onset spontaneous tumours [26].
• In sm homozygotes, the apical ectodermal ridge (AER) is hyperplastic by embryonic day 10.5, leading to abnormal dorsoventral thickening of the limb bud, subsequent merging of the skeletal condensations that give rise to cartilage and bone in the digits, and eventual fusion of digits [27].
• Erythrocytes of SS homozygotes exposed to oxygen or carbon monoxide decrease their potassium and water content through a pathway for potassium transport that is activated by both cell swelling and decrease in internal pH [28].
• The Brg1 catalytic subunit of SWI/SNF-related complexes has been implicated in many developmental and physiological processes, but null homozygotes die as blastocysts prior to implantation [29].
• Macrophages from Heedless homozygotes signaled by the MyD88-dependent pathway in response to rough lipopolysaccharide (LPS) and lipid A, but not in response to smooth LPS [30].

Associations of Homozygote with chemical compounds

• We isolated Pax-6 cDNA clones from an rSey homozygote library, and found an internal deletion of about 600 basepairs in the serine/threonine-rich domain [31].
• Exogenous folic acid and thymidine both correct the biosynthetic defect and prevent some NTDs in splotch homozygotes, whereas methionine has an exacerbating effect [32].
• 5 mo after shunt surgery, the rate of LDL synthesis in the homozygote had declined by 48% as compared with the preoperative value, and this caused a 39% drop in the plasma LDL cholesterol level despite a 17% reduction in the fractional catabolic rate of the lipoprotein [33].
• Accordingly, microsomal 7-dehydrocholesterol-delta 7-reductase is inherited abnormally in Smith-Lemli-Opitz homozygotes [34].
• The rate of cholesterol synthesis, estimated by chemical sterol balance, was higher in the FH homozygote than in two FH heterozygotes of similar age studied simultaneously [33].

Gene context of Homozygote

• The fgf5neo and go mutations fail to complement one another, and exon 1 of Fgf5 is deleted in DNA from go homozygotes, demonstrating that go is a mutant allele of Fgf5 [35].
• Here we show that, like db/db mice, lepr(S1138) homozygotes (s/s) are hyperphagic and obese [36].
• We found that mutation of chico extends fruit fly median life-span by up to 48% in homozygotes and 36% in heterozygotes [37].
• We find that c14CoS homozygotes which express transgenic Fah are complemented for all aspects of the complex lethal albino phenotype [38].
• In support of this hypothesis, we show here that compound Foxc1; Foxc2 homozygotes die earlier and with much more severe defects than single homozygotes alone [39].

Analytical, diagnostic and therapeutic context of Homozygote

• Circadian rhythms with periods of about 27 hours were detected in 77% of slice cultures and 15% of dispersed cell cultures derived from Clock/Clock homozygotes [40].
• FINDINGS: The proportion of individuals with innate slow mEPHX activity (homozygotes) was significantly higher in both the COPD group and the emphysema group than in the control group (COPD 13 [19%] vs control 13 [6%]; emphysema 21 [22%] vs 13 [6%]) [41].
• PCR amplification, subcloning, and DNA sequence analysis of clones from A/A and B/B homozygotes confirmed the protein sequence data and the codon difference of CAA versus GAA, respectively [42].
• Membrane-enclosed cytoplasmic vesicles that stained strongly positive with a fluorescein-labeled antibody against LacCer were found in the renal tubular cells of all homozygotes except two who had undergone a portacaval shunt [43].
• HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression [44].

References