Disease relevance of Genes, Recessive

• The rapidly fatal autoimmune disease accompanied by pneumonitis in the mutant mouse known as motheaten is caused by an autosomal recessive gene [1].
• Mice bearing the recessive gene lpr develop an autoimmune syndrome associated with a massive lymphadenopathy, both of which are age and thymus dependent [2].
• Mice homozygous for the autosomal recessive gene, cartilage matrix deficiency (cmd/cmd), are characterized by disproportionate dwarfism and cleft palate [3].
• Much indirect evidence supports the prevailing concept that the wobbler mouse represents an inherited form of lower motor neuron degeneration, with resultant neurogenic muscular atrophy, due to an autosomal recessive gene (wr) [4].
• A point mutation in murine nramp, an autosomal recessive gene controlling resistance to intracellular organisms, correlates with overwhelming Mycobacterium bovis infection in mice [5].

High impact information on Genes, Recessive

• However, we have not yet fully resolved how the recessive genes relate to alpha-synuclein, or whether they represent different ways to induce a similar phenotype [6].
• In contrast, mutations in several recessive genes (parkin, DJ-1, and PINK1) produce neuronal cell loss but generally without protein aggregation pathology [6].
• Transmission is by an autosomal recessive gene twi [7].
• Recently, a new mouse strain, MRL/Mp-Ipr/Ipr (MRL/l) has been developed which carries an autosomal recessive gene (lpr) that results in massive lymph node enlargement concomitant with the development of several autoantibodies [8].
• The polygenic control of diabetogenesis in NOD mice, in which a recessive gene linked to the major histocompatibility complex is but one of several controlling loci, suggests that similar polygenic interactions underlie this type of diabetes in humans [9].

Chemical compound and disease context of Genes, Recessive

• The sex-linked recessive gene Tfm in the mouse produces a condition of testicular feminization (androgen insensitivity syndrome, AIS) in hemizygotes, comparable to the condition of the same name in humans [10].

Biological context of Genes, Recessive

• Whereas FAS(lpr) functions as a recessive gene, Sle1 exhibits a gene dosage effect [11].
• These abnormalities may not be an aspect of the cand syndrome, but they are due to recessive genes located on the third chromosome [12].
• These data are consistent with genetic models suggesting that ethanol preference may be influenced by dominant genes, whereas cholinergic sensitivity may be influenced by recessive genes [13].
• We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome [14].
• A recessive gene on chromosome 17 encodes a protein, known as p53, which normally acts to regulate the cell cycle, its mutation and overexpression being amongst the commonest genetic abnormalities in human malignant neoplasms [15].

Anatomical context of Genes, Recessive

• In mice, the two distinct autosomal recessive genes lpr and gld can induce a syndrome characterized by autoantibody formation and the progressive accumulation of an unusual CD4-CD8- T cell population in peripheral lymphoid tissue [16].
• The in vitro sensitivity of B lymphocytes and macrophages derived from (CBA/N X DBA/2N) F1 male mice, which carry an X-linked recessive gene that produces defective B cell maturation, was compared to phenotypically normal F1 female mice [17].
• Genetical analysis showed that the defect in T cell-specific homing was regulated by a single autosomal recessive gene, tentatively designated plt (paucity of lymph node T cells) [18].
• Accumulation of hordein in the endoplasmic reticulum appears to be determined by the absence of gamma 3 hordein, or the product of a gene closely linked to it, plus one or more other recessive genes [19].
• The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene [20].

Associations of Genes, Recessive with chemical compounds

• Genetic analysis suggests that melatonin deficiency in C57BL/6J mice results from mutations in two independently segregating, autosomal recessive genes [21].
• Specifically, selective adult type lactose malabsorptions seem to be inherited by a single autosomal recessive gene [22].
• The observed frequencies of HYPERREACTIVE and HYPOREACTIVE phenotypes in the (A/J x C3H/HeJ) F1; (C3H/HeJ x A/J) F1 x C3H/HeJ (C3H/HeJ backcross); and the [(A/J x C3H/HeJ) F1 x (C3H/HeJ x A/J) F1] F2 are consistent with a single autosomal recessive gene primarily controlling acetylcholine-mediated airway responses [23].
• The resistance to fenpropimorph involves two recessive genes, each of which allows a semiresistance, when they are isolated apart from one another [24].
• Black eyes of the moth of Heliothis virescens were controlled by a single, autosomal recessive gene, b [25].

Gene context of Genes, Recessive

• The recessive gene for HFE is unknown but closely linked to the HLA-A locus [26].
• In contrast, defective TCR induced IL-4 production (which appeared to be a unique property of SJL mice) seems to be controlled by two recessive genes unlinked to NKR-P1 [27].
• The family study results were compatible with the model that the low activity type is due to an autosomal recessive gene, which indicates that DNASE2 L represents homozygosity for DNASE2*L and DNASE2 H corresponds to homozygosity for DNASE2*H and heterozygosity for DNASE2*L and DNASE2*H [28].
• Linkage analyses showed that DT-APR was controlled by two recessive genes, ltnr1 and ltnr2, which were mapped on chromosome 3 and 11, respectively [29].
• TNNI3 is the first recessive gene identified for this condition, and we suggest that other such genes could be pinpointed by mutation analyses designed to identify homozygous mutations [30].

Analytical, diagnostic and therapeutic context of Genes, Recessive

• The recessive gene regulating small body size has been designated dw-3 (dwarf-3), and the recessive gene influencing reproductive capacity has been designated f [31].
• We have recently established a new animal model for primary Sjögren's syndrome in NFS/sld mutant mice thymectomized 3 days after birth (3dTX) bearing an autosomal recessive gene with sublingual gland differentiation arrest [32].

References