title: Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
abstract: Reiner et al. (1995b) reported on the existence of a gene with a coding region virtually identical to LIS1, the gene responsible for Miller-Dieker lissencephaly. This gene, LIS2, was mapped to chromosome 2p11.2, and a related pseudogene, LIS2P, was mapped to 2q13-->q14. By sequencing genomic clones that were mapped by means of 2p and 2q-only hybrids, we now demonstrate the existence of two LIS1 processed pseudogenes mapping to 2p11.2 and 2q13 (PAFAH1P1 and PAFAH1P2, respectively). The two sequences appear to lie within larger paralogous regions and share a 98.6% degree of identity. Comparative mapping data by cytogenetic analysis on great apes indicate that the duplication of the genomic region comprising the LIS1 pseudogenes occurred in humans. We also demonstrate that the cDNA sequence shown as part of the LIS2 gene and marking its chromosome 2 specificity belongs to the 3' untranslated region of a different gene (C1orf6) that we mapped to 1q21 by FISH analysis.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Fogli
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.forename: G
authors.initials: G
authors.lastname: Arrigo
authors.forename: C
authors.initials: C
authors.lastname: Lo Nigro
authors.forename: M
authors.initials: M
authors.lastname: Zollo
authors.forename: L
authors.initials: L
authors.lastname: Viggiano
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000015:Abnormalities, Multiple / Q000235:genetics; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008869:Microtubule-Associated Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009928:Organ Specificity; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D008869:Microtubule-Associated Proteins; D012333:RNA, Messenger; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human