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Results for “Genes, Recessive”

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PubMedDate not supplied

Faded shaker, a lethal pigment and neurological mutation in the chicken.

Faded shaker (fs) is a lethal condition in chickens resulting in a congenital tremor and a dilution of down and feather melanin. It is inherited as an autosomal recessive gene with the homozygote showing incomplete penetrance, the apparent result of a single dominant gene masking the effects of the fs/fs genotype. Mortality of the mutants occurred between 18 days of incubation and three months of age; most died before one week of age with half of the mutants dying before hatching. No specific cause of death was observed. The tremor had a frequency of 6 to 10 vibrations per second, was more pronounced in the posterior end of the bird and was constant over time within an individual. Weight of the faded shaker cerebellum was reduced by 7.6%, presumably due to an observed deficiency of myelin. The down and feather color of faded shakers ranged from almost normal to near white, but was constant over several feather generations within an individual. Faded shaker melanosomes were both deficient in number and incompletely melanized. Melanocyte dendrition and melanosome distribution were both normal. Skin transplants showed that the dilution was a result of a defect located in the fs/fs skin. Pigmentation of the retinal pigment epithelium also was abnormal.

Animals↗

PubMedDate not supplied

New mutation causing hereditary hepatitis in the laboratory rat.

A new mutant causing hereditary hepatitis associated with severe jaundice has been discovered in the LEC strain of rats. Hepatitis appears suddenly in adult rats three to four months after birth. The clinical signs of hepatitis are characterized by severe jaundice, subcutaneous bleeding, oliguria, and loss of body weight. The affected rats showed a high lethality and histological changes of the liver with focal necrosis of enlarged hepatocytes without inflammatory cell response. Genetic tests indicate that at least a single autosomal recessive gene is responsible for the major cause of hepatitis. Furthermore, liver cancer appears in long survived rats after recovery from jaundice as well as a few asymptomatic rats without jaundice. The LEC rats thus provide an animal model useful for the basic and clinical studies of hepatitis and liver cancer, including their pathogenesis, prevention, and treatment.

Aging↗

PubMedDate not supplied

The hypotrophic axonopathy mutant in Japanese quail.

A new behavioral mutant showing either head or body quivering, or both, was found in Japanese quail. This trait was characterized by neurofilament deficiency in the axons of the cervical spinal cord and the optic and sciatic nerves and was named "hypotrophic axonopathy." This character was shown to be controlled by an autosomal recessive gene, for which the gene symbol hax was proposed.

Animals↗

PubMedDate not supplied

Blastoderm degeneration, an early embryonic failure in dwarf Single Comb White Leghorn chickens.

Blastoderm degeneration is an early embryonic lethal condition observed in selected paired matings within a line of dwarf Single Comb White Leghorn chickens that results in a 25% reduction of the hatch of fertilized eggs. The disorder is macroscopically evident at 32 h of incubation by the presence of a small localized indentation on the outer periphery of the expanding blastoderm. The affected blastoderms undergo a series of rapid macroscopic degenerative changes that conclude at about 120 h characterized by the presence of dispersed blastoderm fragments on the surface of the egg's yolk. Microscopically, this embryonic failure appears to manifest itself between Hamburger-Hamilton stages 8 and 9 of development and is characterized by a series of retarded developmental processes: closure of the anterior neuropore, brain vesicle differentiation, somite formation, and cardiac development. The disorder is inherited as an autosomal recessive trait. Attempts to identify factors that influence the disorder have thus far been unsuccessful. The symbol bld is proposed for this recessive gene.

Animals↗

PubMedDate not supplied

Celadon: an eggshell color mutation in Japanese quail.

A new eggshell color mutant was discovered in the Japanese quail. This trait was named "celadon" and was shown to be controlled by an autosomal recessive gene. Therefore, the gene symbol ce was proposed. This gene and an autosomal recessive gene we controlling a white eggshell trait were shown to be nonallelic. Also, ce was shown to be hypostatic to we. A spectrophotometric analysis revealed that the celadon eggshell pigments are protoporphyrin and biliverdin as in the wild-type eggshell, but the protoporphyrin content is much lower than that of the wild type. The biliverdin content was 44% of the wild type.

Animals↗

PubMedDate not supplied

Light down lethal: a new autosomal recessive down color mutation in Japanese quail.

A new plumage color mutation of Japanese quail (Coturnix japonica) was named "light down lethal" based on its light coloration of neonatal plumage and almost total mortality by 3 weeks of age. Prehatch mortality of the light down lethal was also higher (36.8%) than the wild type (8.2%). The majority of the light down lethal chicks that hatched died within 1 week of age. Among the 103 light down lethal chicks that hatched, only two males survived to adulthood and reproduced normally. Their adult mutant plumage was very similar to that of the wild type. The mutant down showed the same striped pattern on the dorsal surface as the wild-type chick, but the color of the stripes was lighter than the wild type. Genetic analysis revealed that the mutant phenotype is controlled by an autosomal recessive gene. The proposed gene symbol is ldl.

Animals↗

PubMed2001

The Arabidopsis immutans mutation affects plastid differentiation and the morphogenesis of white and green sectors in variegated plants.

The immutans (im) variegation mutant of Arabidopsis has green and white leaf sectors due to the action of a nuclear recessive gene, IMMUTANS (IM). This gene encodes the IM protein, which is a chloroplast homolog of the mitochondrial alternative oxidase. Because the white sectors of im accumulate the noncolored carotenoid, phytoene, IM likely serves as a redox component in phytoene desaturation. In this paper, we show that IM has a global impact on plant growth and development and is required for the differentiation of multiple plastid types, including chloroplasts, amyloplasts, and etioplasts. IM promoter activity and IM mRNAs are also expressed ubiquitously in Arabidopsis. IM transcript levels correlate with carotenoid accumulation in some, but not all, tissues. This suggests that IM function is not limited to carotenogenesis. Leaf anatomy is radically altered in the green and white sectors of im: Mesophyll cell sizes are dramatically enlarged in the green sectors and palisade cells fail to expand in the white sectors. The green im sectors also have significantly higher than normal rates of O(2) evolution and elevated chlorophyll a/b ratios, typical of those found in "sun" leaves. We conclude that the changes in structure and photosynthetic function of the green leaf sectors are part of an adaptive mechanism that attempts to compensate for a lack of photosynthesis in the white leaf sectors, while maximizing the ability of the plant to avoid photodamage.

Adaptation, Physiological↗

PubMed1986

Linkage analysis of loci controlling blood groups and the rectovaginal constriction syndrome in Jersey cattle.

The possibility of linkage between the recessive gene controlling the rectovaginal constriction (RVC) syndrome in Jersey cattle and 13 loci controlling blood groups and polymorphic proteins was studied. No evidence of close to moderate linkage was found between the RVC locus and any of the systems A, B, C, F, L, S, Z, R', Hb, Tf, Am-1 and Ca. No definite conclusion was possible with the M system.

Animals↗

PubMed2005

Analysis of recessive lethality on swine chromosome 6 in a Göttingen miniature resource family.

Previously, we reported recessive gene(s) that terminate fetal development on swine chromosome (SSC) 6 between SW855 and SW122. The affected alleles originated from a Göttingen miniature pig used for construction of a Göttingen miniature pig x Meishan resource population. However, it is not known when the gene(s) are activated during fetal development, which is one of the important factors in selecting candidate genes responsible for fetal death. In the present study, a second swine population consisting of 159 progeny was produced by mating pigs carrying the deleterious allele(s). This population allowed us to narrow the genetic region harbouring the affected gene(s) and to demonstrate that the region was confined between RYR1 and SW782 (5.7 cM on the National Institute of Animal Industry (NIAI) map and 100 cR on the INRA/University of Minnesota porcine radiation hybrid panel map). In order to determine when the affected gene(s) are activated and in turn terminate fetal development, embryos produced in the second population were collected at several development stages and genotyped for markers in the region. Genes in the homozygous state affected embryo development between 9 and 11 days post-coitus.

Animals↗

PubMedDate not supplied

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.

An ataxia-hypogonadism syndrome is reported in at least four of 15 family members (two brothers and two sisters). Consanguinity could be proven by genealogical studies; parents were second cousins. The onset of cerebellar ataxia in three sibs was at about 12-20 years, in the proposita at 33-38 years; progression was very slow. Hypogonadotropic hypogonadism was reflected in failure of maturation of secondary sexual characteristics, eunuchoidism, absence of libido and infertility. The concurrence of hereditary ataxia and hypogonadotropic hypogonadism is discussed and explained as pleiotropic effects caused by the homozygous state of a rare autosomal recessive gene. A review of the literature suggests that this is a previously undescribed disorder.

Aged↗

PubMed1977

Familial occurrence of histiocytosis.

The clinical and histological findings of four children with lethal histiocytosis are reported. The children belonged to two sibships and originated from a Swedish geographical isolate. Consanguinity between the parents was established for one of the sibships, belonging to a pedigree in which malignant disease occurred in two generations. The observations indicate that the type of histiocytosis investigated is caused by homozygosity for a single recessive gene. The association between histiocytosis and malignancy is discussed.

Consanguinity↗

PubMed1978

Genetic epidemiology of an institutionalized cohort of mental retardates.

By criterion scaling and principal component analysis of performance, social class, symptoms, institutionalization, and medical history, a cohort of mental defectives has been divided into medical, biological, and sociofamilial categories. This division, corresponding to differences in etiology and severity, reveals changing patterns of admission and provides evidence that male excess is not primarily due to sex linkage. The incidence of mental retardation increases about 5% with first-cousin marriage, in agreement with other studies. The decline of IQ with inbreeding appears to be due entirely to rare recessive genes, not to dominance deviations of polygenes.

Consanguinity↗

PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.

Adolescent↗

PubMed1978

Johanson-Blizzard syndrome in a large inbred kindred with three involved members.

An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.

Abnormalities, Multiple↗

PubMed1996

Siblings with congenital renal tubular acidosis and nerve deafness.

Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in accordance with an autosomal recessive gene. The association of RTA and deafness was first noted by Royer in 1967, and so far some 50 cases have been described. The literature is reviewed.

Acidosis, Renal Tubular↗

PubMed1996

Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family.

Four siblings with achalasia, alacrimia and other problems involving the autonomic nervous system involvements are reported. Achalasia and alacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showed that autonomic dysfunction has progressed with age. Blood cortisol levels were normal in all four affected children. Depending on those findings of our case and previous reports, we conclude that triple-A syndrome and achalasia, alacrimia with or without neurological abnormalities could be variable manifestations of the same autosomal recessive gene defect.

Adolescent↗

PubMed1997

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.

Abnormalities, Multiple↗

PubMed1981

HLA in a selective aldosterone biosynthetic defect due to type 2 corticosterone methyl-oxidase deficiency.

HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.

Aldosterone↗