Characterization and Physical Mapping in Human and Mouse of a Novel RING Finger Gene in Xp22

Veyver, Ignatia B. Van den; Cormier, Trena A.; Jurecic, Vesna; Baldini, Antonio; Zoghbi, Huda Y.

doi:10.1006/geno.1998.5350

Cited by 26 publications

(25 citation statements)

References 35 publications

(45 reference statements)

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“…MID1 is transcribed from multiple promoters and uses several 5 0 -untranslated (5 0 UTR) exons in different combinations. The entire gene spans approximately 400 kb of genomic region [Cox et al, 2000;Perry et al, 1998;Van den Veyver et al, 1998]. More recently, a total of 63 alternatively spliced transcript variants incorporating 14 novel exons (1a-1c, 2a-2 g, 3a, 4a, i6, and 6a) have been reported in different human tissues [Winter et al, 2004].…”

Section: Introductionmentioning

confidence: 99%

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

2008

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Communicated by Arnold MunnichMutations in the MID1 gene are responsible for the X-linked form of Opitz G/BBB syndrome (OS), a disorder that affects the development of midline structures. OS is characterized by hypertelorism, hypospadias, laryngotracheo-esophageal (LTE) abnormalities, and additional midline defects. Cardiac, anal, and neurological defects are also present. The expressivity of OS is highly variable, even within the same family. We reviewed all the MID1 mutations reported so far, in both familial and sporadic cases. The mutations are scattered along the entire length of the gene and consist of missense and nonsense mutations, insertions and deletions, either inframe or causing frameshifts, and deletions of either single exons or the entire MID1 coding region. The variety of described mutations and the lack of a strict genotype-phenotype correlation confirm the previous suggestion of the OS phenotype being caused by a loss-of-function mechanism. However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association between some types of mutation and specific clinical manifestations, e.g., brain anatomical defects and truncating mutations. This may suggest that the pathogenetic mechanism underlying the OS phenotype is more complex and may vary among the affected organs. Hum Mutat 29(5), [584][585][586][587][588][589][590][591][592][593][594] 2008.

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Section: Introductionmentioning

confidence: 99%

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

2008

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“…It has therefore been hypothesized that Aicardi syndrome and Goltz syndrome are caused by de novo heterozygous mutations in an X-linked gene and that hemizygous mutations in males are almost always lethal (Naritomi et al, 1992;Schaefer et al, 1996;Schaefer et al, 1997;Van den Veyver et al, 1998;Prakash et al, 1999). A few XCI studies have been performed in Aicardi syndrome, but the data are not all in agreement.…”

Section: Chromosome Inactivationmentioning

confidence: 67%

“…A deletion in mouse of its rhoGAP domain has no phenotype (Prakash et al, 2000), and it is therefore less likely that it contributes to the defects seen in MLS syndrome. The coding region of MID1 is outside the MLS critical region (Van den Veyver et al, 1998), but it has not been excluded that deletion of some of its 5) untranslated region (UTR) exons participate in the phenotype of MLS syndrome.…”

Section: Microphthalmia With Linear Skin Defects and Chromosomal Abnomentioning

confidence: 99%

“…However, no mutations in the genes in the MLS critical region in these conditions have been found (Schaefer et al, 1996(Schaefer et al, , 1997Van den Veyver et al, 1998;Prakash et al, 1999Prakash et al, , 2000, and the argument that they may be allelic to MLS and to each other is now less compelling. A reevaluation of the clinical similarities and differences of these syndromes and the design of alternative strategies to identify the mutated genes have become necessary.…”

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confidence: 99%

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Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

Veyver¹

2002

Cytogenet Genome Res

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Gene identification for X-linked dominant sporadic disorders is challenging because no extended families exist that can be studied by linkage analysis. Therefore, classic positional cloning approaches are not possible, and other methods have to be used to search for candidate genes. These conditions present the next challenge for disease-gene identification of Mendelian disorders. The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (focal dermal hypoplasia).

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“…The GENX-6206 transcript appears to be related to the mouse mRNA for a kinesin-like protein (Nomura et al 1994), with a probable role in transport of mitochondria along microtubules. A region of the GENX-3446 transcript appears to be distantly related to a human transcript encoding a putative transcription factor XPRF (Quaderi et al 1997;Van den Veyver et al 1998). …”

Section: Discussionmentioning

confidence: 99%

The Genexpress IMAGE Knowledge Base of the Human Muscle Transcriptome: A Resource of Structural, Functional, and Positional Candidate Genes for Muscle Physiology and Pathologies

et al. 1999

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Sequence, gene mapping, and expression data corresponding to 910 genes transcribed in human skeletal muscle have been integrated to form the muscle module of the Genexpress IMAGE Knowledge Base. Based on cDNA array hybridization, a set of 14 transcripts preferentially or specifically expressed in muscle have been selected and characterized in more detail: Their pattern of expression was confirmed by Northern blot analysis; their structure was further characterized by full-insert cDNA sequencing and cDNA extension; the map location of the corresponding genes was refined by radiation hybrid mapping. Five of the 14 selected genes appear as interesting positional and functional candidate genes to study in relation with muscle physiology and/or specific orphan muscular pathologies. One example is discussed in more detail. The expression profiling data and the associated Genexpress Index2 entries for the 910 genes and the detailed characterization of the 14 selected transcripts are available from a dedicated Web server athttp://idefix.upr420.vjf.cnrs.fr/IMAGE/Page_unique/welcome_muscles.html. The database has been organized to provide the users with a working space where they can find curated, annotated, integrated data for their genes of interest. Different navigation routes to exploit the resource are discussed.[Tables A and B are available as supplementary information at www.genome.org and also athttp://idefix.upr420.vjf.cnrs.fr/IMAGE/Page_unique/welcome_muscles.html.]

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Characterization and Physical Mapping in Human and Mouse of a Novel RING Finger Gene in Xp22

Cited by 26 publications

References 35 publications

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

The Genexpress IMAGE Knowledge Base of the Human Muscle Transcriptome: A Resource of Structural, Functional, and Positional Candidate Genes for Muscle Physiology and Pathologies

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