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• W1996341186 endingPage "50" @default.
• W1996341186 startingPage "50" @default.
• W1996341186 abstract "Prader-Willi syndrome (PWS) is a neurobehavioral disorder characterized by neonatal hypotonia, childhood obesity, dysmorphic features, hypogonadism, mental retardation, and behavioral problems. Although PWS is most often caused by a paternal interstitial deletion of a 6-Mb region of chromosome 15q11-q13, the identity of the exact protein coding or noncoding RNAs whose deficiency produces the PWS phenotype is uncertain. There are also reports describing a PWS-like phenotype in a subset of patients with full mutations in the FMR1 (fragile X mental retardation 1) gene. Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region.We have characterized transcripts for the first time for two UCSC Genome Browser predicted protein-coding genes, GOLGA8E (golgin subfamily a, 8E) and WHDC1L1 (WAS protein homology region containing 1-like 1) and have further characterized two previously reported genes, CYF1P1 and NIPA2; all four genes are in the region close to the proximal/centromeric deletion breakpoint (BP1). GOLGA8E belongs to the golgin subfamily of coiled-coil proteins associated with the Golgi apparatus. Six out of 16 golgin subfamily proteins in the human genome have been mapped in the chromosome 15q11-q13 and 15q24-q26 regions. We have also identified more than 38 copies of GOLGA8E-like sequence in the 15q11-q14 and 15q23-q26 regions which supports the presence of a GOLGA8E-associated low copy repeat (LCR). Analysis of the 15q11-q13 region by PFGE also revealed a polymorphic region between BP1 and BP2. WHDC1L1 is a novel gene with similarity to mouse Whdc1 (WAS protein homology region 2 domain containing 1) and human JMY protein (junction-mediating and regulatory protein). Expression analysis of cultured human cells and brain tissues from PWS patients indicates that CYFIP1 and NIPA2 are biallelically expressed. However, we were not able to determine the allele-specific expression pattern for GOLGA8E and WHDC1L1 because these two genes have highly related sequences that might also be expressed.We have presented an updated version of a sequence-based physical map for a complex chromosomal region, and we raise the possibility of polymorphism in the genomic orientation of the BP1 to BP2 region. The identification of two new proteins GOLGA8E and WHDC1L1 encoded by genes in the 15q11-q13 region may extend our understanding of the molecular basis of PWS. In terms of copy number variation and gene organization, this is one of the most polymorphic regions of the human genome, and perhaps the single most polymorphic region of this type." @default.
• W1996341186 created "2016-06-24" @default.
• W1996341186 creator A5000510528 @default.
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• W1996341186 creator A5090308185 @default.
• W1996341186 creator A5090832501 @default.
• W1996341186 date "2008-01-01" @default.
• W1996341186 modified "2023-10-15" @default.
• W1996341186 title "Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region" @default.
• W1996341186 cites W1494182669 @default.
• W1996341186 cites W1520711807 @default.
• W1996341186 cites W1543569607 @default.
• W1996341186 cites W1552218246 @default.
• W1996341186 cites W1578646984 @default.
• W1996341186 cites W1594803476 @default.
• W1996341186 cites W1641165670 @default.
• W1996341186 cites W1964340841 @default.
• W1996341186 cites W1966256304 @default.
• W1996341186 cites W1969342132 @default.
• W1996341186 cites W1972357429 @default.
• W1996341186 cites W1973881315 @default.
• W1996341186 cites W1974005129 @default.
• W1996341186 cites W1976403210 @default.
• W1996341186 cites W1977648444 @default.
• W1996341186 cites W1980390341 @default.
• W1996341186 cites W1983532821 @default.
• W1996341186 cites W1985513877 @default.
• W1996341186 cites W1987388768 @default.
• W1996341186 cites W1987706867 @default.
• W1996341186 cites W1988254568 @default.
• W1996341186 cites W1991192559 @default.
• W1996341186 cites W1992691231 @default.
• W1996341186 cites W1993821286 @default.
• W1996341186 cites W2000098518 @default.
• W1996341186 cites W2001780311 @default.
• W1996341186 cites W2001854167 @default.
• W1996341186 cites W2002202527 @default.
• W1996341186 cites W2003849576 @default.
• W1996341186 cites W2008285304 @default.
• W1996341186 cites W2009920091 @default.
• W1996341186 cites W2010043305 @default.
• W1996341186 cites W2022863421 @default.
• W1996341186 cites W2027834813 @default.
• W1996341186 cites W2031482412 @default.
• W1996341186 cites W2032419047 @default.
• W1996341186 cites W2036390149 @default.
• W1996341186 cites W2040936222 @default.
• W1996341186 cites W2044110911 @default.
• W1996341186 cites W2049902528 @default.
• W1996341186 cites W2055573605 @default.
• W1996341186 cites W2055873401 @default.
• W1996341186 cites W2060187824 @default.
• W1996341186 cites W2061639735 @default.
• W1996341186 cites W2064937927 @default.
• W1996341186 cites W2069144875 @default.
• W1996341186 cites W2069169829 @default.
• W1996341186 cites W2070204443 @default.
• W1996341186 cites W2070766068 @default.
• W1996341186 cites W2072603644 @default.
• W1996341186 cites W2075314429 @default.
• W1996341186 cites W2078027998 @default.
• W1996341186 cites W2083248381 @default.
• W1996341186 cites W2090411769 @default.
• W1996341186 cites W2093760946 @default.
• W1996341186 cites W2094215765 @default.
• W1996341186 cites W2100135235 @default.
• W1996341186 cites W2101253405 @default.
• W1996341186 cites W2101275009 @default.
• W1996341186 cites W2103428229 @default.
• W1996341186 cites W2105054482 @default.
• W1996341186 cites W2106874662 @default.
• W1996341186 cites W2107121353 @default.
• W1996341186 cites W2112091369 @default.
• W1996341186 cites W2115212748 @default.
• W1996341186 cites W2118933386 @default.
• W1996341186 cites W2124637255 @default.
• W1996341186 cites W2128431911 @default.
• W1996341186 cites W2130680376 @default.
• W1996341186 cites W2132062710 @default.
• W1996341186 cites W2135949952 @default.
• W1996341186 cites W2141227147 @default.
• W1996341186 cites W2143936008 @default.
• W1996341186 cites W2144413095 @default.
• W1996341186 cites W2145843666 @default.
• W1996341186 cites W2146036559 @default.
• W1996341186 cites W2146915584 @default.
• W1996341186 cites W2147375281 @default.
• W1996341186 cites W2147714004 @default.
• W1996341186 cites W2148641958 @default.
• W1996341186 cites W2158063056 @default.
• W1996341186 cites W2158865983 @default.
• W1996341186 cites W2161828890 @default.
• W1996341186 cites W2165116262 @default.
• W1996341186 cites W2166628542 @default.

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