Phenotype i Associated with Congenital Cataract in Japanese

Ogata, Hiroko; Okubo, Yasuto; Akabane, T

doi:10.1046/j.1537-2995.1979.19279160286.x

Cited by 34 publications

(19 citation statements)

References 5 publications

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“…In Asian populations, i blood group phenotype of erythrocytes is clearly associated with the onset of cataracts, while the relationship is less clear in Caucasian populations (18,19,22,28,37). IGnT C (IGnT3) is responsible for I antigen expression on erythrocytes (11,41).…”

Section: Discussionmentioning

confidence: 99%

“…The molecular basis of i blood group expression on erythrocytes has been clarified recently (11,41); null mutations in IGnT C (IGnT3) are responsible for the phenotype. In Asians, the blood group i phenotype is associated with congenital cataracts (18,28,37), whereas the association is less pronounced in Caucasian populations (19,22). Analysis of the IGnT gene has suggested that congenital cataracts are caused by null mutations of common exons (41).…”

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confidence: 99%

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Abnormalities Caused by Carbohydrate Alterations in Iβ6-N-Acetylglucosaminyltransferase-Deficient Mice

Chen¹,

Muramatsu

Kondo

et al. 2005

Molecular and Cellular Biology

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I␤6-N-acetylglucosaminyltransferase (IGnT) catalyzes the branching of poly-N-acetyllactosamine carbohydrate chains. In both humans and mice, three spliced forms of IGnT have been identified, and a common exon is present in all of them. We generated mice deficient in the common exon to understand the physiological function of poly-N-acetyllactosamine branching. IGnT activity was abolished in the stomach, kidney, bone marrow, and cerebellum of the deficient mice, while a low level of the activity persisted in the small intestine. Immunohistochemical analysis confirmed the loss of I antigen from the lung, stomach, and kidney. The deficient mice had reduced spontaneous locomotive activity. The number of peripheral blood lymphocytes was also reduced and renal function decreased in the deficient mice. Furthermore, in aged mice, vacuolization occurred in the kidney, and epidermoid cysts were frequently formed. However, cataracts did not develop earlier in the deficient mice. Decreased levels of lysosomal proteins, LAMP-2 and synaptotagmin VII, were found in the kidney of the deficient mice and correlated with renal abnormalities.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Abnormalities Caused by Carbohydrate Alterations in Iβ6-N-Acetylglucosaminyltransferase-Deficient Mice

Chen¹,

Muramatsu

Kondo

et al. 2005

Molecular and Cellular Biology

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“…15,16 In addition, it was reported that the adult i phenotype in Japanese persons is often associated with congenital cataracts. 33 The i blood type of individuals in the present study is associated with cataracts, as described in "Materials and methods." However, it has been reported that the i blood type of white persons has a reduced association with congenital cataracts.…”

Section: Discussionmentioning

confidence: 99%

A novel I-branching β-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression

Inaba

Hiruma

Togayachi

et al. 2003

Blood

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The human blood group i and I antigens are determined by linear and branched poly-N-acetyllactosamine structures, respectively. In erythrocytes, the fetal i antigen is converted to the adult I antigen by I-branching ␤-1,6-N-acetylglucosaminyltransferase (IGnT) during development. Dysfunction of the I-branching enzyme may result in the adult i phenotype in erythrocytes. However, the I gene responsible for blood group I antigen has not been fully confirmed. We report here a novel human I-branching enzyme, designated IGnT3. The genes for IGnT1 (reported in 1993), IGnT2 (also presented in this study), and IGnT3 consist of 3 exons and share the second and third exons. Bone marrow cells preferentially expressed IGnT3 transcript. During erythroid differentiation using CD34 ؉ cells, IGnT3 was markedly up-regulated with concomitant decrease in IGnT1/2. Moreover, reticulocytes expressed the IGnT3 transcript, but IGnT1/2 was below detectable levels. By molecular genetic analyses of an adult i pedigree, individuals with the adult i phenotype were revealed to have heterozygous alleles with mutations in exon 2 (1006G>A; Gly336Arg) and exon 3 (1049G>A; Gly350Glu), respectively, of the IGnT3 gene. Chinese hamster ovary (CHO) cells transfected with each mutated IGnT3 cDNA failed to express I antigen. These findings indicate that the expression of the blood group I antigen in erythrocytes is determined by a novel IGnT3, not by IGnT1 or IGnT2.

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“…The association can be explained by either a close linkage between independent I-and cataract-related genes or a pleiotropic effect of the gene responsible for the adult i phenotype on the development of cataracts. 24,25 Because of the reduced association between adult i phenotype and congenital cataracts in the white population, the former hypothesis of a close linkage of 2 independent genes was suggested to be the tenable one. 28 It has been proposed that the adult i phenotype in Asians, and in some whites, may result from the deletion of a small chromosomal region that also encompasses a nearby gene, and this results in the development of cataracts.…”

Section: Discussionmentioning

confidence: 99%

“…10 Despite its rareness, the adult i phenotype has attracted considerable attention because of its association with congenital cataracts. Yamaguchi et al [24][25][26] first reported the observation of an association between the adult i phenotype and congenital cataracts among Japanese. Linkage of adult i phenotype and congenital cataracts has been observed in 3 Taiwanese pedigrees.…”

Section: Introductionmentioning

confidence: 99%

Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen

Twu

Chang

et al. 2001

Blood

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The human blood group i and I antigens are characterized as linear and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires the activity of I-branching ␤-1,6-N-acetylglucosaminyltransferase (IGnT). Thus the blood group I gene is assigned to encode a ␤-1,6-N-acetylglucosaminyltransferase; however, its identity has not been confirmed. The null phenotype of I, the adult i phenotype, provides a means to identify the I gene. Interestingly, the adult i phenotype has been noted to be associated with congenital cataracts in Asians.

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Phenotype i Associated with Congenital Cataract in Japanese

Cited by 34 publications

References 5 publications

Abnormalities Caused by Carbohydrate Alterations in Iβ6-N-Acetylglucosaminyltransferase-Deficient Mice

Abnormalities Caused by Carbohydrate Alterations in Iβ6-N-Acetylglucosaminyltransferase-Deficient Mice

A novel I-branching β-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression

Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen

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